rare disease registries in europe - enerca · 2017-09-13 · neutropenia 3619 autosomal dominant...
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2http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Methodology 3
List of rare diseases that are covered by the listed registries 4
Summary 13
1- Distribution of registries by country 13
2- Distribution of registries by coverage 14
3- Distribution of registries by affiliation 14
Distribution of registries by country 15
European registries 38
International registries 41
Table of contents
3http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Patient registries and databases constitute key instruments to develop clinical research in the field of rare diseases (RD), to improve patient care and healthcare planning. They are the only way to pool data in order to achieve a sufficient sample size for epidemiological and/or clinical research. They are vital to assess the feasibility of clinical trials, to facilitate the planning of appropriate clinical trials and to support the enrolment of patients.Registries of patients treated with orphan drugs are particularly relevant as they allow the gathering of evidence on the effectiveness of the treatment and on its possible side effects, keeping in mind that marketing authorisation is usually granted at a time when evidence is still limited although already somewhat convincing.This report gather the information collected by Orphanet so far, regarding systematic collections of data for a specific disease or a group of diseases.
Cancer registries are listed only if they belong to the network RARECARE or focus on a rare form of cancer.
The report includes data about EU countries and surrounding countries participating to the Orphanet consortium.The diseases covered by each register are provided with Orpha number which is their identifier in the Orphanet nomenclature.
For any questions or comments, please contact us: [email protected]
Methodology
4http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
List of rare diseases that are covered by the listed registries
ORPHA Number Disease name
3718 3C syndrome
1031 46,XX disorder of sex development
98078 46,XX disorder of sex development induced by androgens excess
1002 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
94 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
325351 46,XY disorder of sex development of endocrine origin
34 6-pyruvoyl-tetrahydropterin synthase deficiency
3009 Aase-Smith syndrome
258 Ablepharon macrostomia syndrome
1490 Abruzzo-Erickson syndrome
7030 Absent tibia - polydactyly
235 Acatalasemia
48818 Aceruloplasminemia
462 Achondroplasia
49382 Achromatopsia
2207 Ackerman syndrome
101963 Acquired chronic primary adrenal insufficiency
861 Acrocraniofacial dysostosis
3082 Acrodermatitis enteropathica
1789 Acrofacial dysostosis, Catania type
64542 Acrofacial dysostosis, Kennedy-Teebi type
1787 Acrofacial dysostosis, Palagonia type
3140 Acrofacial dysostosis, Rodríguez type
3187 Acrofacial dysostosis, Weyers type
1788 Acro-fronto-facio-nasal dysostosis
79356 Acrokeratoderma
1518 Acromegaloid facial appearance syndrome
463 Acromegaly
1522 Acromicric dysplasia
1511 Acroosteolysis dominant type
1524 Acrorenal syndrome
1513 Acro-renal-mandibular syndrome
99892 ACTH-dependent Cushing syndrome
318 Acute erythroid leukemia
293173 Acute generalized exanthematous pustulosis
79276 Acute intermittent porphyria
79126 Acute interstitial pneumonia
513 Acute lymphoblastic leukemia
518 Acute megakaryoblastic leukemia
ORPHA Number Disease name
514 Acute monoblastic leukemia
519 Acute myeloid leukemia
517 Acute myelomonocytic leukemia
35889 Acute opioid poisoning
520 Acute promyelocytic leukemia
309120 Acyl-CoA dehydrogenase deficiency
55881 Adamantinoma
85138 Addison disease
3710 Adducted thumbs - arthrogryposis, Christian type
8641 Adenosine monophosphate deaminase deficiency
100091 Adrenal/paraganglial tumor
1501 Adrenocortical carcinoma
2792 Adult familial nephronophthisis - spastic quadriparesia
1530 ADULT syndrome
829 Adult-onset Still disease
83617 Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis
52055 Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia
86873 Aggressive NK-cell leukemia
1536 Agnathia - holoprosencephaly - situs inversus
484 Albers-Schönberg osteopetrosis
565 Allergic bronchopulmonary aspergillosis
3644 Alopecia - epilepsy - pyorrhea - intellectual disability
1542 Alopecia-contractures-dwarfism-intellectual disability syndrome
989 Alpha-1-antitrypsin deficiency
4040 Alpha-mannosidosis
254 Alpha-thalassemia
7020 Alport syndrome
1551 Alström syndrome
8746 Alternating hemiplegia of childhood
8658 Alveolar echinococcosis
1450 Amelo-cerebro-hypohidrotic syndrome
88661 Amelogenesis imperfecta
1558 Amelogenesis imperfecta - nephrocalcinosis
1748 Aminopterin/methotrexate embryofetopathy
312 Amyotrophic lateral sclerosis
1245 Androgen insensitivity syndrome
157954 ANE syndrome
ORPHA Number Disease name
417 Angelman syndrome
1572 Ankyloblepharon - ectodermal defects - cleft lip/palate
1587 Anonychia - microcephaly
2858 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
1593 Anophthalmia plus syndrome
96346 Anorectal malformation
3482 Anti-glomerular basement membrane disease
80 Antiphospholipid syndrome
3032 Aortic arch interruption
59 Apert syndrome
320 Apparent mineralocorticoid excess
2878 Arachnodactyly - abnormal ossification - intellectual disability
3457 Arachnodactyly - intellectual disability - dysmorphism
1609 AREDYLD syndrome
508 Argininemia
8642 Argininosuccinic aciduria
8607 Arnold-Chiari malformation type II
2853 Arrhinia
247 Arrhythmogenic right ventricular dysplasia
3387 Arterial tortuosity syndrome
5522 Arthrogryposis - renal dysfunction - cholestasis
982 Arthrogryposis multiplex congenita
1666 Ascher syndrome
94 Astrocytoma
167 Ataxia-telangiectasia
8694 Atresia of small intestine
8608 Atypical hemolytic-uremic syndrome
77300 Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities
71270 Auriculoocular anomalies - cleft lip
98375 Autoimmune hemolytic anemia
2554 Autoimmune polyendocrinopathy type 2
71203 Autoimmune thrombocytopenia
93665 Autoinflammatory syndrome
8734 Autosomal dominant cerebellar ataxia
94145 Autosomal dominant cerebellar ataxia type 1
94148 Autosomal dominant cerebellar ataxia type 3
73229 Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
5http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
ORPHA Number Disease name
4048 Autosomal dominant hyper-IgE syndrome
34149 Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
3155 Autosomal dominant osteosclerosis, Worth type
5013 Autosomal dominant polycystic kidney disease
3252 Autosomal dominant severe congenital neutropenia
3619 Autosomal dominant spondylocostal dysostosis
1172 Autosomal recessive cerebellar ataxia
34515 Autosomal recessive limb-girdle muscular dystrophy type 2I
264 Autosomal recessive polycystic kidney disease
700 Autosomal recessive primary microcephaly
3070 Autosomal recessive spondylocostal dysostosis
782 Axenfeld-Rieger syndrome
1653 Bamforth-Lazarus syndrome
1656 Barber-Say syndrome
2901 Bardet-Biedl syndrome
415 Barth syndrome
818 Bartsocas-Papas syndrome
67038 B-cell chronic lymphocytic leukemia
86852 B-cell prolymphocytic leukemia
98895 Becker muscular dystrophy
8722 Beckwith-Wiedemann syndrome
1658 Beemer-Ertbruggen syndrome
8663 Behçet disease
38 Bernard-Soulier syndrome
1309 Beta-thalassemia
16 Bethlem myopathy
140963 Bilateral microtia - deafness - cleft palate
2427 Bilateral renal agenesis
30391 Biliary atresia
3002 Birdshot chorioretinopathy
161 Blackfan-Diamond anemia
90340 Blau syndrome
889 Blepharo-cheilo-odontic syndrome
1665 Blepharonasofacial malformation syndrome
1922 Blepharophimosis - ptosis - esotropia - syndactyly - short stature
2302 Blepharophimosis-intellectual disability syndrome, Ohdo type
2499 Blepharophimosis-intellectual disability syndrome, SBBYS type
223727 Bone sarcoma
1670 Böök syndrome
293 Botulism
1673 Bowen-Conradi syndrome
ORPHA Number Disease name
1691 Brachymorphism - onychodysplasia - dysphalangism
3195 Branchio-oculo-facial syndrome
1697 Branchio-skeleto-genital syndrome
97287 Bronchial endocrine tumor
1303 Bronchiolitis obliterans with obstructive pulmonary disease
70589 Bronchopulmonary dysplasia
8029 Budd-Chiari syndrome
703 Bullous pemphigoid
543 Burkitt lymphoma
1359 C syndrome
329931 C3 glomerulonephritis
1313 CADASIL
280062 Calciphylaxis
1706 Cantrell pentalogy
137667 Capillary malformation - arteriovenous malformation
42 Carbamoyl-phosphate synthase deficiency
1220 Cardiocranial syndrome, Pfeiffer type
1365 Carey-Fineman-Ziter syndrome
97286 Carney-Stratakis syndrome
65759 Carpenter syndrome
160 Castleman disease
1094 Cataract - intellectual disability - hypogonadism
540 Catecholamine-producing tumor
1095 Catel-Manzke syndrome
478 Cat-eye syndrome
1265 Caudal regression sequence
86870 CD4+/CD56+ hematodermic neoplasm
3243 Central core disease
595 Centronuclear myopathy
1933 Cerebral gigantism - jaw cysts
329 Cerebro-costo-mandibular syndrome
46627 Char syndrome
183 Charcot-Marie-Tooth disease
3244 CHARGE syndrome
1311 Cherubism
3474 CHIME syndrome
3395 Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
5530 Cholestasis - pigmentary retinopathy - cleft palate
55880 Chondrosarcoma
1248 Choroideremia
85278 Christianson syndrome
68335 Chromosomal anomaly
5532 Chronic granulomatous disease
521 Chronic myeloid leukemia
101959 Chronic primary adrenal insufficiency
247525 Citrullinemia type I
168984 CLAPO syndrome
ORPHA Number Disease name
726 Classical homocystinuria
8530 Cleft lip with or without cleft palate
1892 Cleft lip/palate - intestinal malrotation - cardiopathy
1351 Cleft palate
2817 Cleft palate - short stature - vertebral anomalies
1198 Cleft palate - stapes fixation - oligodontia
1200 Cleft palate-lateral synechia syndrome
8565 Cleidocranial dysplasia
930 Cockayne syndrome
1741 CODAS syndrome
1043 Coffin-Lowry syndrome
2566 COFS syndrome
92 Cohen syndrome
31824 Colchicine poisoning
157820 Cold-induced sweating syndrome
1081 Colonic atresia
35909 Combined deficiency of factor V and factor VIII
3049 Common variable immunodeficiency
965 Complete atrioventricular canal
1822 Cone rod dystrophy
1526 Congenital absence/hypoplasia of fingers excluding thumb, unilateral
206 Congenital adrenal hyperplasia
2807 Congenital bronchobiliary fistula
532 Congenital diaphragmatic hernia
137 Congenital disorder of glycosylation
98873 Congenital dyserythropoietic anemia type II
1244 Congenital factor VII deficiency
329 Congenital factor XI deficiency
2960 Congenital factor XIII deficiency
8645 Congenital fiber-type disproportion myopathy
3184 Congenital fibrinogen deficiency
903 Congenital generalized hypertrichosis, Ambras type
88991 Congenital heart malformation
671 Congenital hypothyroidism
68378 Congenital limb malformation
97242 Congenital muscular dystrophy
370953 Congenital muscular dystrophy due to dystroglycanopathy
206973 Congenital myotonia
839 Congenital nephrotic syndrome, Finnish type
79394 Congenital non-bullous ichthyosiform erythroderma
3386 Congenital pulmonary airway malformation
264675 Congenital pulmonary alveolar proteinosis
123 Congenital pulmonary lymphangiectasia
6http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
ORPHA Number Disease name
372 Congenital pulmonary venous return anomaly
3035 Congenital systemic veins anomaly
169826 Congenital vitamin K-dependent coagulation factors deficiency
812 Congenitally uncorrected transposition of the great arteries
1334 Conotruncal heart malformations
101987 Constitutional neutropenia
1747 Contractures - ectodermal dysplasia - cleft lip/palate
3571 Cornelia de Lange syndrome
54251 Corticosteroid-sensitive aseptic abscess syndrome
1011 Cowden syndrome
8600 Coxopodopatellar syndrome
1761 Craniodiaphyseal dysplasia
3206 Craniodigital syndrome - intellectual disability
1762 Cranioectodermal dysplasia
1149 Craniofacial-deafness-hand syndrome
293843 Craniofacial-ulnar-renal syndrome
54595 Craniopharyngioma
8556 Craniosynostosis - Dandy-Walker malformation - hydrocephalus
1056 Crohn disease
3072 Crossed polysyndactyly
665 Crouzon disease
553 Cushing syndrome
79140 Cutaneous neuroendocrine carcinoma
8708 Cystic fibrosis
378 Cystinosis
1053 Darier disease
2608 Deafness - enamel hypoplasia - nail defects
85321 Deafness - intellectual disability, Martin-Probst type
3000 Dehydratase deficiency
1652 Dent disease
1179 Dentin dysplasia
99791 Dentin dysplasia type II
49042 Dentinogenesis imperfecta
71267 Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability
220 Denys-Drash syndrome
1672 Dermato-cardio-skeletal syndrome, Borrone type
1321 Dermatomyositis
1181 Dermatoosteolysis, Kirghizian type
1184 Dermo-odonto dysplasia
98909 Desminopathy
873 Desmoid tumor
83469 Desmoplastic small round cell tumor
1666 Dextrocardia
ORPHA Number Disease name
66637 Diaphanospondylodysostosis
3569 Diastrophic dwarfism
90060 Diffuse alveolar hemorrhage
544 Diffuse large B-cell lymphoma
31828 Digitalis poisoning
2139 Dihydropteridine reductase deficiency
79166 Disorder of amino acid absorption and transport
602 Distal myopathy, Nonaka type
18 Distal renal tubular acidosis
362 Dopa-responsive dystonia
260 Down syndrome
139402 Drug rash with eosinophilia and systemic symptoms
8548 Dubowitz syndrome
311 Duchenne and Becker muscular dystrophy
98896 Duchenne muscular dystrophy
443 Duodenal atresia
520 Dyskeratosis congenita
1786 Dysosteosclerosis
303 Dystrophic epidermolysis bullosa
256 Early-onset generalized limb-onset dystonia
797 Ear-patella-short stature syndrome
2198 Ebstein malformation
1797 Ectodermal dysplasia - blindness
79373 Ectodermal dysplasia syndrome
3439 EEC syndrome
1839 EEM syndrome
98249 Ehlers-Danlos syndrome
612 Ellis Van Creveld syndrome
1315 Emery-Dreifuss muscular dystrophy
877 Endocrine tumor
85186 Endosteal sclerosis - cerebellar hypoplasia
60015 Enlarged parietal foramina
85438 Enthesitis-related arthritis
301 Ependymal tumor
79355 Erythrokeratoderma
79278 Erythropoietic protoporphyria
8741 Esophageal atresia
3318 Essential thrombocythemia
31826 Ethylene glycol poisoning
8711 Evans syndrome
319 Ewing sarcoma
3754 Fabry disease
678 Facioscapulohumeral dystrophy
8698 Familial adenomatous polyposis
85447 Familial amyloid polyneuropathy
313846 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
26106 Familial gastric cancer
ORPHA Number Disease name
3338 Familial hemophagocytic lymphohistiocytosis
864 Familial hypospadias
656 Familial idiopathic steroid-resistant nephrotic syndrome
93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
209886 Familial juvenile hyperuricemic nephropathy type 1
1247 Familial Mediterranean fever
99361 Familial medullary thyroid carcinoma
618 Familial melanoma
213517 Familial ovarian cancer
1333 Familial pancreatic carcinoma
319487 Familial papillary or follicular thyroid carcinoma
71290 Familial platelet syndrome with predisposition to acute myelogenous leukemia
31043 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
3497 Familial prostate cancer
168624 Familial scaphocephaly syndrome, McGillivray type
938 Fanconi anemia
1890 Femoral agenesis/hypoplasia
22 Fetal alcohol syndrome
1900 Fibrochondrogenesis
242 Fibrodysplasia ossificans progressiva
3519 Filippi syndrome
3458 Fine-Lubinsky syndrome
1910 Floating-Harbor syndrome
1912 Flynn-Aird syndrome
1941 Focal dermal hypoplasia
48918 Focal myositis
1866 Focal, segmental or multifocal dystonia
545 Follicular lymphoma
2607 Fountain syndrome
137834 Frank-Ter Haar syndrome
413 Fraser syndrome
347 Frasier syndrome
2190 Freeman-Sheldon syndrome
458 Friedreich ataxia
1919 Frontometaphyseal dysplasia
227796 Fundus albipunctatus
1925 GAPO syndrome
314022 Gastric adenocarcinoma and proximal polyposis of the stomach
36273 Gastric linitis plastica
100092 Gastroenteropancreatic endocrine tumor
7http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
ORPHA Number Disease name
44890 Gastrointestinal stromal tumor
97 Gastroschisis
182 Gaucher disease
2609 Generalized resistance to thyroid hormone
101960 Genetic chronic primary adrenal insufficiency
183497 Genetic neuromuscular disease
1903 Gingival fibromatosis - facial dysmorphism
1904 Gingival fibromatosis - progressive deafness
3576 Gitelman syndrome
3527 Glanzmann thrombasthenia
360 Glioblastoma
141163 Glossopalatine ankylosis
25 Glutaryl-CoA dehydrogenase deficiency
252 Glycogen storage disease due to acid maltase deficiency
177 Glycogen storage disease due to glycogen branching enzyme deficiency
148 Glycogen storage disease due to glycogen debranching enzyme deficiency
284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency
99849 Glycogen storage disease due to muscle beta-enolase deficiency
776 Glycogen storage disease due to muscle glycogen phosphorylase deficiency
3362 Glycogen storage disease due to muscle phosphofructokinase deficiency
139 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
97234 Glycogen storage disease due to phosphoglycerate mutase deficiency
292 Glycogen storage disease due to phosphorylase kinase deficiency
66629 Goldberg-Shprintzen megacolon syndrome
8578 Goldenhar syndrome
1943 Gordon syndrome
244 Gorlin syndrome
1945 Gorlin-Chaudhry-Moss syndrome
53693 GRACILE syndrome
8674 Granulomatosis with polyangiitis
3520 GTP cyclohydrolase I deficiency
99803 Haddad syndrome
3611 Haim-Munk syndrome
1952 Hallermann-Streiff syndrome
2038 Harlequin ichthyosis
1957 Hartsfield-Bixler-Demyer syndrome
5519 Hemimelia
139491 Hemochromatosis type 4
68364 Hemoglobinopathy
158032 Hemophagocytic syndrome
853 Hemophilia
ORPHA Number Disease name
1962 Hennekam syndrome
890 Hepatic veno-occlusive disease
3699 Hepatoblastoma
88673 Hepatocellular carcinoma
64743 Hepatoportal sclerosis
91378 Hereditary angioedema
2997 Hereditary breast and ovarian cancer syndrome
227535 Hereditary breast cancer
401 Hereditary chronic pancreatitis
79273 Hereditary coproporphyria
1902 Hereditary gingival fibromatosis
346 Hereditary hemorrhagic telangiectasia
523 Hereditary leiomyomatosis and renal cell cancer
2902 Hereditary nonpolyposis colon cancer
79357 Hereditary palmoplantar keratoderma
29072 Hereditary pheochromocytoma-paraganglioma
213524 Hereditary site-specific ovarian cancer syndrome
1306 Hidrotic ectodermal dysplasia
1799 Hidrotic ectodermal dysplasia, Halal type
1046 Hirschsprung disease - nail hypoplasia - dysmorphism
391 Hodgkin lymphoma, classical
3750 Holoprosencephaly
8691 Homocystinuria due to methylene tetrahydrofolate reductase deficiency
2986 Homocystinuria without methylmalonic aciduria
7 Huntington disease
93473 Hurler syndrome
1072 Hydrocephalus with stenosis of the aqueduct of Sylvius
1991 Hydrolethalus
3209 Hyperammonemia due to N-acetylglutamate synthetase deficiency
866 Hyperornithinemia-hyperammonemia-homocitrullinuria
2705 Hyperostosis corticalis generalisata
99880 Hyperparathyroidism-jaw tumor syndrome
238583 Hyperphenylalaninemia
31740 Hypersensitivity pneumonitis
3437 Hypertelorism, Teebi type
2003 Hypertelorism-microtia-facial clefting syndrome
2010 Hypertrichosis lanuginosa congenita
725 Hypoglossia - hypodactyly
1790 Hypomandibular faciocranial dysostosis
88637 Hypomyelination - hypogonadotropic hypogonadism - hypodontia
8748 Hypophosphatasia
708 Hypoplastic left heart syndrome
2667 Hypoplastic tibiae - postaxial polydactyly
ORPHA Number Disease name
3654 Hypotrichosis-intellectual disability, Lopes type
79354 Ichthyosis
8531 Idiopathic achalasia
60033 Idiopathic bronchiectasis
182101 Idiopathic eosinophilic pneumonia
33208 Idiopathic hypersomnia
98482 Idiopathic inflammatory myopathy
98300 Idiopathic interstitial pneumonia
747 Idiopathic pulmonary alveolar proteinosis
2032 Idiopathic pulmonary fibrosis
99931 Idiopathic pulmonary hemosiderosis
3337 Immune thrombocytopenic purpura
8695 Immunoglobulin A vasculitis
68367 Inborn errors of metabolism
4028 Inclusion body myositis
3752 Incontinentia pigmenti
1641 Infantile onset spinocerebellar ataxia
90003 Inflammatory pseudotumor of the liver
140162 Inherited cancer-predisposing syndrome
319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
79361 Inherited epidermolysis bullosa
252190 Inherited nervous system cancer-predisposing syndrome
319328 Inherited renal cancer-predisposing syndrome
3540 Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
3574 Interauricular communication
182095 Interstitial lung disease
264735 Interstitial lung disease specific to adulthood
104010 Intestinal polyposis syndrome
104011 Intestinal tumor
1048 Isolated anencephaly/exencephaly
2542 Isolated anophthalmia - microphthalmia
1356 Isolated anorectal malformation
279 Isolated Pierre Robin syndrome
823 Isolated spina bifida
2062 Isotretinoin-like syndrome
118 Isovaleric acidemia
8563 Jacobsen syndrome
3237 Jalili syndrome
8543 Jeune syndrome
2065 Johanson-Blizzard syndrome
2066 Johnson neuroectodermal syndrome
1330 Joubert syndrome
2322 Joubert syndrome with orofaciodigital defect
220497 Joubert syndrome with renal defect
2068 Juberg-Hayward syndrome
93672 Juvenile dermatomyositis
8http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
ORPHA Number Disease name
248111 Juvenile Huntington disease
831 Juvenile hyaline fibromatosis
8585 Juvenile idiopathic arthritis
93568 Juvenile polymyositis
85408 Juvenile rheumatoid factor-negative polyarthritis
85435 Juvenile rheumatoid factor-positive polyarthritis
837 Kabuki syndrome
2906 Kallmann syndrome
33276 Kaposi's sarcoma
164 Kapur-Toriello syndrome
8713 Kawasaki disease
3189 KBG syndrome
8559 KID syndrome
2908 Kindler syndrome
99978 Klatskin tumor
33543 Kleine-Levin syndrome
2084 Kousseff syndrome
5545 Lacrimoauriculodentodigital syndrome
8721 Lamellar ichthyosis
389 Langerhans cell histiocytosis
357 Large congenital melanocytic nevus
8551 Larynx atresia
46059 Lathosterolosis
3057 Leber congenital amaurosis
54260 Left ventricular noncompaction
957 Legionellosis
137605 Legius syndrome
140936 Lelis syndrome
8661 Lennox-Gastaut syndrome
1185 Lethal restrictive dermopathy
99844 Leukocyte adhesion deficiency type III
137639 Leukoencephalopathy - ataxia - hypodontia - hypomyelination
951 Li-Fraumeni syndrome
3090 Limb body wall complex
263 Limb-girdle muscular dystrophy
69085 Limb-mammary syndrome
867 Lymphangioleiomyomatosis
309337 Lysosomal glycogen storage disease
592 Macrophagic myofasciitis
83619 Macrostomia - preauricular tags - external ophthalmoplegia
8542 Malaria
679 Malignant atrophic papulosis
190 Malignant hyperthermia
168999 Malignant melanoma of the mucosa
52417 MALT lymphoma
2138 Mandibuloacral dysplasia
52416 Mantle cell lymphoma
2142 Marden-Walker syndrome
1473 Marfan syndrome
ORPHA Number Disease name
2148 Marshall-Smith syndrome
821 Matthew-Wood syndrome
1663 Maxillonasal dysplasia
373 Meacham syndrome
891 Median cleft lip/mandibule
1332 Medullary thyroid carcinoma
616 Medulloblastoma
97338 Melanoma of soft parts
51013 Melanoma-pancreatic cancer syndrome
50251 Mesothelioma
33067 Metaphyseal chondrodysplasia, Jansen type
31825 Methanol poisoning
234 Methylmalonic acidemia with homocystinuria
280183 Methylmalonic aciduria due to transcobalamin receptor defect
2178 Microbrachycephaly - ptosis - cleft lip
788 Microcephaly - cleft palate
83642 Microcytic anemia with liver iron overload
2822 Microgastria - limb reduction defect
1083 Microlissencephaly
3089 Microphthalmia - cataract
201 Microphthalmia, Lenz type
83463 Microtia
68380 Mitochondrial disease
217613 Mitochondrial disease with dilated cardiomyopathy
552 MODY
3340 Moebius syndrome
243 Monosomy 5p
98503 Motor neuron disease
1972 Mowat-Wilson syndrome
79213 Mucopolysaccharidosis
53271 Muenke syndrome
68341 Multiple congenital anomalies/dysmorphic syndrome
460 Multiple endocrine neoplasia type 1
29073 Multiple myeloma
2904 Multiple osteochondromas
228145 Multiple sclerosis variant
102 Multiple system atrophy
588 Muscle-eye-brain disease
71864 Muscular channelopathy
2530 Myasthenia gravis
52688 Myelodysplastic syndrome
824 Myelofibrosis with myeloid metaplasia
98274 Myeloproliferative neoplasm
182050 MYH9-related disease
3663 Myhre syndrome
206647 Myotonic dystrophy
69087 Naegeli-Franceschetti-Jadassohn syndrome
ORPHA Number Disease name
3556 Nager syndrome
1255 Nance-Horan syndrome
83465 Narcolepsy without cataplexy
2073 Narcolepsy-cataplexy
509 Nasopalpebral lipoma - coloboma - telecanthus
3543 Nasopharyngeal carcinoma
8534 Nemaline myopathy
8690 Nephroblastoma
223 Nephrogenic diabetes insipidus
137617 Nephrogenic systemic fibrosis
655 Nephronophthisis
2260 Neu-Laxova syndrome
2699 Neural tube defect
263440 Neuroacanthocytosis
1036 Neuroblastoma
514 Neurocutaneous melanocytosis
1045 Neurodegeneration with brain iron accumulation
2262 Neurofaciodigitorenal syndrome
3462 Neurofibromatosis type 1
745 Neurofibromatosis type 2
93921 Neurofibromatosis type 3
2263 Neurofibromatosis type 6
68381 Neuromuscular disease
71211 Neuromyelitis optica
924 Neuronal ceroid lipofuscinosis
77293 Niemann-Pick disease type B
8692 Niemann-Pick disease type C
2557 Nijmegen breakage syndrome
86867 Nodal marginal zone B-cell lymphoma
547 Non-Hodgkin lymphoma
157987 Non-Langerhans cell histiocytosis
94080 Non-secreting paraganglioma
91364 Non-specific interstitial pneumonia
91492 Non-syndromic congenital cataract
10 Noonan syndrome
98733 Noonan syndrome and Noonan-related syndrome
2486 NPHP3-related Meckel-like syndrome
1304 Ocular coloboma
319 Ocular motor apraxia, Cogan type
1177 Oculocerebrocutaneous syndrome
2281 Oculocerebrofacial syndrome, Kaufman type
2283 Oculodental syndrome, Rutherfurd type
2284 Oculodentodigital dysplasia
1792 Oculomaxillofacial dysostosis
2287 Oculoosteocutaneous syndrome
77302 Oculo-oto-facial dysplasia
2288 Oculo-palato-cerebral syndrome
2291 Oculotrichodysplasia
77295 Odontoleukodystrophy
9http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
ORPHA Number Disease name
2295 Odonto-onycho-dermal dysplasia
2297 Odontotrichomelic syndrome
69082 Odonto-tricho-ungual-digito-palmar syndrome
2897 Okamoto syndrome
46484 Oligodendroglial tumor
64 Omphalocele
2309 Ondine syndrome
2313 Ophthalmomandibulomelic dysplasia
3013 Optic pathway glioma
8569 Ornithine transcarbamylase deficiency
139039 Orofacial clefting syndrome
2318 Orofaciodigital syndrome type 1
2320 Orofaciodigital syndrome type 3
2321 Orofaciodigital syndrome type 4
6020 Orofaciodigital syndrome type 5
2323 Orofaciodigital syndrome type 8
2753 Oromandibular-limb hypogenesis syndrome
73230 Ossification anomalies - psychomotor development delay
1251 Osteodysplasty, Melnick-Needles type
852 Osteogenesis imperfecta
399293 Osteonecrosis of the jaw
2339 Osteopathia striata - cranial sclerosis
2781 Osteopetrosis
276 Osteopetrosis with renal tubular acidosis
668 Osteosarcoma
2346 Otodental syndrome
736 Otopalatodigital syndrome
1740 Otospondylomegaepiphyseal dysplasia
93460 Overgrowth syndrome
2063 Pachyonychia congenita
489 Pai syndrome
180824 Pancreatic tumor
950 Pancreatoblastoma
134 Papillary or follicular thyroid carcinoma
2354 Papilloma of choroid plexus
2355 Papillon-Lefèvre syndrome
31827 Paraquat poisoning
143 Parathyroid carcinoma
712 Paroxysmal nocturnal hemoglobinuria
1330 Partial atrioventricular canal
3334 Patent arterial duct
33402 Pediatric hepatocellular carcinoma
93552 Pediatric systemic lupus erythematosus
954 Pemphigus vulgaris
3498 Perlman syndrome
1287 Peters plus syndrome
1039 Peutz-Jeghers syndrome
42642 PFAPA syndrome
690 Phenylketonuria
ORPHA Number Disease name
2393 Pierre Robin syndrome - faciodigital anomaly
99408 Pituitary adenoma
64742 Pleuropulmonary blastoma
54028 Plummer-Vinson syndrome
2407 Poland syndrome
8583 Polymyositis
79358 Porokeratosis
1025 Porphyria
101330 Porphyria cutanea tarda
79473 Porphyria variegata
854 Portal vein thrombosis
3249 Postaxial acrofacial dysostosis
294942 Postaxial polydactyly of fingers
2136 Prader-Willi syndrome
294939 Preaxial polydactyly of fingers
99860 Precursor B-cell acute lymphoblastic leukemia
8594 Primary biliary cirrhosis
46135 Primary central nervous system lymphoma
1314 Primary ciliary dyskinesia
541 Primary cutaneous CD30+ T-cell lymphoproliferative disease
2963 Primary cutaneous lymphoma
416 Primary hyperoxaluria
101997 Primary immunodeficiency
35689 Primary lateral sclerosis
168807 Primary malignant peritoneal tumor
54370 Primary membranoproliferative glomerulonephritis
168803 Primary peritoneal tumor
203 Primary pulmonary lymphoma
151 Primary sclerosing cholangitis
1367 Progressive familial intrahepatic cholestasis
35 Propionic acidemia
8750 Proximal myotonic myopathy
3250 Proximal spinal muscular atrophy
756 Pseudohypoaldosteronism type 1
757 Pseudohypoaldosteronism type 2
758 Pseudoxanthoma elasticum
182090 Pulmonary arterial hypertension
466 Pycnodysostosis
764 Pyomyositis
207085 Qualitative or quantitative defects of dystrophin
207119 Qualitative or quantitative defects of FKRP
207052 Qualitative or quantitative defects of sarcoglycan
93321 Radial hemimelia
2476 Ramon syndrome
102002 Rare ataxia
93419 Rare bone disease
ORPHA Number Disease name
68411 Rare bone tumor
180250 Rare breast tumor
101945 Rare bronchopulmonary tumor
183651 Rare constitutional anemia
93890 Rare developmental defect during embryogenesis
98059 Rare digestive tumor
280275 Rare disease
101953 Rare dyslipidemia
101998 Rare epilepsy
97966 Rare eye disease
180821 Rare gastroesophageal tumor
96210 Rare genetic deafness
183625 Rare genetic diabetes mellitus
98053 Rare genetic disease
101435 Rare genetic eye disease
158300 Rare genetic hematologic disease
98056 Rare genetic renal disease
97992 Rare hematologic disease
248308 Rare hemorrhagic disorder
248315 Rare hemorrhagic disorder due to a coagulation factors defect
68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect
71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly
275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia
101943 Rare hepatic and biliary tract tumor
220489 Rare hereditary hemochromatosis
217454 Rare hereditary thrombophilia
104012 Rare inflammatory bowel disease
68329 Rare maxillo-facial surgical disease
98062 Rare nervous system tumor
98026 Rare odontologic disease
98061 Rare otorhinolaryngologic tumor
213500 Rare ovarian cancer
181415 Rare primary hyperaldosteronism
101944 Rare pulmonary disease
71198 Rare pulmonary hypertension
93626 Rare renal disease
93603 Rare renal tubular disease
280342 Rare rheumatological disease of childhood
79386 Rare skin tumor or hamartoma
71209 Rare soft tissue tumor
98057 Rare tumor
182114 Rare urogenital tumor
101938 Rare vascular liver disease
268114 RAS-associated autoimmune leukoproliferative disease
60032 Recurrent respiratory papillomatosis
83450 Regional odontodysplasia
2626 Renpenning syndrome
71862 Retinal dystrophy
10http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
ORPHA Number Disease name
8652 Retinitis pigmentosa
8627 Retinoblastoma
90050 Retinopathy of prematurity
8670 Rett syndrome
69077 Rhabdoid tumor
284130 Rheumatoid arthritis
59315 Rhombencephalosynapsis
140976 RHYNS syndrome
1372 Ring chromosome 20
97360 Robinow syndrome
90339 Rosselli-Gulienetti syndrome
555 Rothmund-Thomson syndrome
907 Rubinstein-Taybi syndrome
3114 Ruvalcaba syndrome
140969 Saldino-Mainzer syndrome
8653 Sarcoidosis
2085 Schilbach-Rott syndrome
131 Schizencephaly
923 Schwartz-Jampel syndrome
8625 Scleroderma
2560 Sclerosteosis
67039 Segmental odontomaxillary dysplasia
1965 Senior-Loken syndrome
2564 Septo-optic dysplasia
42738 Severe congenital neutropenia
758 Sézary syndrome
3110 Short stature - intellectual disability - eye anomalies - cleft lip/palate
2567 SHORT syndrome
811 Shwachman-Diamond syndrome
430 Sickle cell anemia
275752 Sickle cell disease and related diseases
225 Simpson-Golabi-Behmel syndrome
79022 Simpson-Golabi-Behmel syndrome type 2
85191 Singleton-Merten dysplasia
766 Sjögren syndrome
49 Sjögren-Larsson syndrome
818 Smith-Lemli-Opitz syndrome
2952 Sneddon syndrome
8726 Sotos syndrome
79132 Sparse hair - short stature - skin anomalies
94147 Spinocerebellar ataxia type 7
86854 Splenic marginal zone lymphoma
2129 Split hand-split foot malformation
84271 Sporadic idiopathic steroid-resistant nephrotic syndrome
93220 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
67037 Squamous cell carcinoma of head and neck
324737 SRD5A3-CDG
3316 Stargardt disease
6018 Steinert myotonic dystrophy
ORPHA Number Disease name
2593 Stern-Lubinsky-Durrie syndrome
1167 Steroid dehydrogenase deficiency - dental anomalies
36426 Stevens-Johnson syndrome
85279 Syndromic X-linked intellectual disability due to JARID1C mutation
188 Systemic capillary leak syndrome
429 Systemic lupus erythematosus
603 Systemic mastocytosis
240266 Systemic non-Langerhans cell histiocytosis
2946 Systemic primary carnitine deficiency
90291 Systemic sclerosis
2304 Taurodontia - absent teeth - sparse hair
86872 T-cell large granular lymphocyte leukemia
86871 T-cell prolymphocytic leukemia
1784 Temtamy syndrome
883 Teratoma
842 Testicular seminomatous germ cell tumor
3327 Tetralogy of Fallot
86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome
49827 Thiamine-responsive megaloblastic anemia syndrome
2107 Thickened earlobes - conductive deafness
93573 Thrombotic microangiopathy
54057 Thrombotic thrombocytopenic purpura
100100 Thymic tumor
99867 Thymoma
100087 Thyroid tumor
2665 Tibial aplasia - ectrodactyly
95455 Toxic epidermal necrolysis
99886 Transient neonatal diabetes mellitus
56970 Transmissible spongiform encephalopathy
32960 TRAPS syndrome
804 Treacher-Collins syndrome
3723 Trichinellosis
567 Tricho-dento-osseous syndrome
33364 Trichothiodystrophy
2431 Triphalangeal thumbs - brachyectrodactyly
171929 Trisomy 10p
1417 Trisomy 12p
205 Trisomy 13
6022 Trisomy 18
2697 Truncus arteriosus
68347 Tumor of hematopoietic and lymphoid tissues
90038 Typical hemolytic-uremic syndrome
83001 Urogenital tract malformation
6520 Usher syndrome
39044 Uveal melanoma
1286 Van der Woude syndrome
211237 Vascular tumor
52759 Vasculitis
ORPHA Number Disease name
387 Ventricular septal defect
3422 Vitamin B12-responsive methylmalonic acidemia
1501 Vitamin B12-unresponsive methylmalonic acidemia
263 Von Hippel-Lindau disease
903 Von Willebrand disease
8743 WAGR syndrome
899 Walker-Warburg syndrome
2726 Weill-Marchesani syndrome
2731 Wiedemann-Rautenstrauch syndrome
3384 Williams syndrome
713 Wilson disease
1771 Wolcott-Rallison syndrome
461 Wolf-Hirschhorn syndrome
26 Wolfram syndrome
749 X-linked adrenoleukodystrophy
2436 X-linked intellectual disability - dysmorphism - cerebral atrophy
85317 X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration
85276 X-linked intellectual disability, Armfield type
85293 X-linked intellectual disability, Cabezas type
85287 X-linked intellectual disability, Siderius type
85325 X-linked intellectual disability, Stevenson type
85289 X-linked intellectual disability, Vitale type
1608 X-linked mandibulofacial dysostosis
876 Yolk sac tumor
1256 Young adult-onset Parkinsonism
3183 Yunis-Varon syndrome
2741 Zimmermann-Laband syndrome
11http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Summary
1- Distribution of registries by country
COUNTRY REGIONAL NATIONAL EUROPEAN GLOBAL NOT DEFINED TOTAL
AT - Austria 1 14 0 2 0 17
BE - Belgium 2 16 0 3 0 21
BG - Bulgaria 0 11 0 0 0 11
CH - Switzerland* 1 7 1 2 0 11
CY - Cyprus 0 2 0 0 0 2
CZ - Czech Republic 0 4 0 0 0 4
DE - Germany 9 73 2 32 0 116
DK - Denmark 1 3 0 0 0 4
EE - Estonia 0 2 1 0 0 3
ES - Spain 11 31 3 1 0 46
FI - Finland 0 7 0 0 0 7
FR - France 19 95 13 4 1 132
GR - Greece 0 2 0 0 0 2
HR - Croatia 0 1 0 0 0 1
HU - Hungary 0 4 0 1 0 5
IE - Ireland 4 7 0 0 0 11
IL - Israel* 0 2 0 0 0 2
IS - Iceland* 0 2 0 0 0 2
IT - Italy 9 49 4 7 2 71
LT - Lithuania 0 1 0 0 0 1
LU - Luxembourg 0 1 0 0 0 1
LV - Latvia 0 1 0 0 0 1
MK - Republic of Macedonia* 0 1 0 0 0 1
MT - Malta 0 2 0 0 0 2
NL - Netherlands 1 12 4 8 0 25
NO - Norway* 0 4 3 0 0 7
PL - Poland 3 5 2 0 0 10
PT - Portugal 5 11 0 0 0 16
RO - Romania 0 2 0 0 0 2
RS - Serbia* 0 4 0 0 0 4
SE - Sweden 0 14 1 3 0 18
SI - Slovenia 0 2 0 0 0 2
SK - Slovakia 0 2 0 0 0 2
TR - Turkey* 0 4 0 0 0 4
UA - Ukraine* 0 1 0 0 0 1
UK - United Kingdom 11 55 11 8 1 86
TOTAL 77 454 45 71 4 651
*surrounding countries participating to the Orphanet consortium
12http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
2- Distribution of registries by coverage
COVERAGE NUMBER OF REGISTRIES
Regional 77
National 454
European 45
Global 71
Not defined 4
TOTAL 651
3- Distribution of registries by affiliation
82%
5% 8%
5%
Public
Private non-for-profit
Private for-profit
Not defined
13http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Distribution of registries by country
AT - AUSTRIA (17 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Austrian acromegaly registry National Public
Austrian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)
National Public
Austrian cancer registry - contributes to the RARECARE project National Public
Austrian chronic myeloid leukemia registry National Public
Austrian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit
Austrian GIST registry National Private non-for-profit
Austrian Haemophilia Registry National Public
Austrian Huntington disease registry National Private for-profit
Austrian myeloma registry National Private non-for-profit
Austrian registry for inborn errors of metabolism National Public
Austrian severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)
National Public
EB Registry National Public
EMSA-SG: central patient registry of the European multiple system atrophy network Global Public
ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood Global Private non-for-profit
MDS: Austrian myelodysplastic syndromes patient registry National Public
Registry for histiocytic disorders (on behalf of the Austrian Society for Hematology & Oncology)
National Public
Styrian registry of congenital anomalies - contributes to the EUROCAT network Regional Public
BE - BELGIUM (21 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Antwerpen registry of congenital anomalies - contributes to the EUROCAT network Regional Private for-profit
Belgian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)
National Public
Belgian contribution to the international rare bleeding disorders registry (RBDD) National Public
Belgian cystic fibrosis patient registry (BMR-RBM) - contributes to the EUROCARE CF and the ECFS registries
National Private non-for-profit
Belgian familial adenomatous polyposis registry National Private non-for-profit
Belgian Neuromuscular Disease Registry National Public
Belgian patient database for Wilson disease - contributes to the EuroWilson registry (terminated)
National Public
Belgian registry of primary immunodeficiencies - contributes to the ESID European registry
National Private for-profit
Belgian rituximab therapy registry for immune anemia and thrombocytopenia National Public
Belgian severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)
National Public
Belgian sickle cell anemia registry National Public
Belgian systemic sclerosis cohort National Public
14http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Central Registry Rare Diseases National Public
ENRAH: Belgian contribution to European registry for alternating hemiplegia in childhood
National Public
EUNEFRON: registry of the European network for the study of orphan nephropathies Global Public
EURECHINOREG: Belgian contribution to the European registry of human alveolar echinococcosis
National Public
EUROGLYCANET - International patient registry and cohort for congenital disorders of glycosylation
Global Private for-profit
Haemoglobinopathies - database National Private for-profit
Hainault and Namur registry of congenital anomalies - contributes to the EUROCAT network
Regional Public
LCH: Belgian Langerhans cell histiocytosis registry National Public
Pediatric granulomatous arthritis international registry Global Private for-profit
BG - BULGARIA (11 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Bulgarian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Bulgaria - part of the TREAT-NMD network
National Private for-profit
National registry of adult patients with chronic myeloid leukemia - BG National Public
National registry of patients with Crohn disease - BG National Public
National registry of patients with Gaucher disease - BG National Public
National registry of patients with mucopolysaccharidosis type II (MPS2) - BG National Public
National registry of patients with phenylketonuria - BG National Public
National registry of patients with primary immunodeficiencies (PID) - BG National Public
National registry of patients with thalassaemia major - BG National Public
National registry of patients with Wilson disease - BG National Public
The Bulgarian genetic registry of monogenic disorders National Public
CH - SWITZERLAND (11 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
EUROCAT (Switzerland, Vaud) - Registry of congenital malformations of canton Vaud Regional Public
Perihilar Cholangiocarcinoma International Registry Global Public
PFAPA Registry: Periodic fever aphtous stomatitis, pharyngitis and adenopathy patient registry
European Not defined
PNH Registry: Paroxysmal Nocturnal Hemoglobinuria registry Global Private for-profit
Swiss alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)
National Public
Swiss Cleft Lip and Palate Registry National Public
Swiss cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
Swiss patient registry for Duchenne/Becker Muscular Dystrophy and Spinal Muscular Atrophy - contributes to the TREAT - NMD network
National Public
Swiss registries for Interstitial and Orphan Lung Diseases (SIOLD Registries) National Public
Swiss registry of biliary atresia - contributes to the EBAR registry National Public
SwissNET - Registry for Neuroendocrine Tumours in Switzerland National Public
15http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
CY - CYPRUS (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Cyprian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit
NMDcy: Cypriot Neuromuscular Diseases - contributes to TREAT-NMD National Private for-profit
CZ - CZECH REPUBLIC (4 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Czech cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
Czech severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
Duchenne and Becker muscular dystrophy patient registry in the Czech Republic and Slovakia - contributes to the TREAT-NMD network
National Private for-profit
Spinal muscular atrophy patient registry in the Czech Republic - part of the TREAT-NMD network
National Private for-profit
DE - Germany (116 registries)DE-ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
AID-NET : Registry for autoinflammatory syndromes National Public
ALS registry Nordrhein-Westfalen Regional Public
ALS registry Rheinland-Pfalz Regional Public
ALS registry swabia Regional Public
AML-BFM Registry 2012: Clinical registry for children and adolescents with acute myeloid leukemia
National Not defined
ARegPKD - an international registry study for autosomal recessive polycystic kidney disease
Global Public
Ataxia-Telangiectasia patient registry - contributes to the ESID Database National Public
Bayern population based cancer registry National Public
Bremen cancer registry National Public
CEDATA-GPGE: Registry of Children with Inflammatory Bowel Disease in Germany and Austria
Global Public
Central Cutaneous Lymphoma Registry National Public
Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network
Regional Public
Child liver tumor registry National Public
Childrens IBD registry in Saxony Regional Public
CMMR: Central Malignant Melanoma Registry in germany National Public
Common cancer registry of Berlin, Brandenburg, Mecklenburg-Western Pomerania, Saxony-Anhalt and the free states Saxony and Thuringia
National Public
Conn Registry: German registry of primary aldosteronism National Public
Core documentation of rheumatic children in germany National Public
CPT-SIOP-Registry : International Registry for Choroid Plexus Tumors Global Public
CURE-Net : National registry for congenital uro-rectal malformations National Public
CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in children, adolescents, and young adults
Global Public
DCLLSG registry - Registry of the German CLL Study Group - Long term observation of patients with CLL, B-PLL, T-PLL, SLL, T/ NK-LGL and Richter transformation
National Public
DÖSAK tumor registry for documentation of tumors of the face and jaws in germany, austria and switzerland
Global Public
16http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Austria and Germany - part of the TREAT-NMD network
National Public
EBAR: European Biliary Atresia Registry Global Public
EHDN: European Huntington's disease registry Global Public
EHDN: neuroacanthocytosis patient registry Global Public
EIMD: European registry and network for intoxication type metabolic diseases Global Public
EKRS: Saarland Cancer Registry - contributes to the RARECARE Project Regional Private non-for-profit
EMBARC - European Bronchiectasis Registry - project member germany European Public
ENETS: European Neuroendocrine Tumour Registry Global Public
Epidemiological cancer registry Baden-Württemberg Regional Public
ESID: European registry of primary immunodeficiencies Global Public
EU-RHAB: European Rhabdoid Tumor Registry Global Public
eurIPFreg: European idiopathic pulmonary fibrosis registry Global Public
EUROFA - EFACT: European Friedreich Ataxia Registry Global Public
European chILD-registry and biobank of the european network for children's interstitial lung diseases (chILD-EU).
Global Public
EUROSCA-R: European patient registry on spinocerebellar ataxias Global Public
EUTOS: European chronic myeloid leukemia patient registry (collaboration between the European LeukemiaNet and Novartis Europe)
Global Public
FACE - National registry for Robin sequence National Public
GeNeMove: German database for wilson disease National Public
German acromegaly registry National Public
German adrenal tumors registry National Private non-for-profit
German AID (Autoinflammatory disorders) registry - subproject AID-NET National Public
German alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)
National Public
German calciphylaxis registry National Public
German central registry for Sickle cell disease National Public
German childhood cancer registry (Partner of ACCIS: Automated Childhood Cancer Information System)
National Not defined
German cystic fibrosis registry - contributes to the EUROCARE CF registry National Public
German epilepsy registry European Public
German Fanconi anemia registry National Public
German gastrointestinal stromal tumor registry National Public
German Haemophilia Registry (DHR) National Public
German marginal zone lymphoma registry National Public
German mucopolysaccharidosis patient registry National Public
German multiple endocrine neoplasia type 1 (MEN 1) registry National Public
German national case collection of familial pancreatic cancer National Public
German paroxysmal nocturnal hemoglobinuria registry National Public
German pituitary tumors registry National Private non-for-profit
German registry for congenital heart defects - part of the competence network for congenital heart defects
National Private non-for-profit
German registry for congenital thrombocytopenia National Public
German registry for Morbus Adamantiades-Behçet e.V. National Not defined
German registry for papulosis atrophicans maligna National Public
German severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
German vasculitis registry National Public
17http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
GMALL-registry: registry for adult patients with acute lymphoblastic leukemia or related diseases
National Public
GOLDnet: Registry for Diffus Parenchymal Lung Disease National Public
GPOH-MET Registry: Registry for children and adolescents with malignant endocrine tumour
National Public
Hamburg cancer registry National Public
HepNet: German hepatocellular carcinoma (HCC) registry National Public
International pheochromocytoma and paraganglioma registry Global Public
INVM (Isolated Noncompaction of Ventricular Myocardium) registry National Private for-profit
Kids Lung Register: International register and biobank for rare lung diseases Global Public
KINDLERNET: Central patient registry Kindler syndrome Global Public
LBL Registry: Registry for children with lymphoblastic lymphoma National Public
LCH: German Langerhans cell histiocystosis registry National Not defined
Lupus nephritis registry (established by the german paediatric nephrology association) National Public
Mainz registry of congenital anomalies - contributes to the EUROCAT network Regional Public
MAISTHRO-Registry : multicentric thrombophilia registry (MAIn-ISar-THROmbose-Register)
National Public
MCR - Munich cancer registry National Public
MDS: German myelodysplastic syndromes patient registry National Public
MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease Global Public
Nationa CMT-patient registry germany - part of the TREAT-NMD network National Public
National FKRP-patient registry germany - part of the TREAT-NMD network National Public
National nephrogenic systemic fibrosis registry National Public
National registry for Blackfan-Diamond disease National Public
NCL-Registry: International neuronal ceroid lipofuscinoses patient registry Global Public
Nephronophthisis registry for patients in germany, austria and switzerland Global Public
NET-Registry: German neuroendocrine gastrointestinal tumors National Public
Neuro-Heart-Registry: Registry for patients with heart involment in neurovascular diseases
National Public
Neuromyelitis optica patient registry National Public
NHL-BFM Registry 2012: Registry of the NHL-BFM study group for all subtypes of Non-Hodgkin Lymphoma diagnosed in children and adolescents
Global Public
NIRK: national central registry for ichthyoses and related keratinization disorders National Public
NIRK: patient registry for autosomal recessive congenital ichthyosis National Public
NKR: German registry for adrenocortical carcinoma National Public
OSTEOPETR: International registry of patients suffering from osteopetrosis Global Public
Patient registry for primary hyperoxaluria - contributes to the OxalEurope-Network National Public
Patient registry of the German Network for Systemic Scleroderma National Public
PID-NET: National registry of primary immunodeficiencies National Public
PODONET: Registry for Steroid-Resistant Nephrotic Syndrome (SRNS) patients Global Public
PSHN Registry - Purpura Schoenlein-Henoch-Nephritis registry of the German society for paediatric nephrology (GPN)
National Public
RAMEDIS : Rare Metabolic Diseases Database National Public
RegiSCAR: International registry of severe cutaneous adverse reactions (SCAR) to drugs and collection of biological samples - patient registry
Global Public
Register for rare myeloproliferative neoplasms Global Public
Registry for congenital melanocytic nevi and neurocutaneous melanocytosis National Public
Registry for Merkel Cell Carcinoma National Public
Registry for patients with mitochondrial diseases (mitoREGISTER) - subproject of mitoNET
National Public
18http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Registry for Patients with WT1 Mutation Associated Diseases National Public
RetDis Database: clinical descriptions of patients and families with inherited eye diseases
Global Public
ROMSE: German patient registry of orofacial manifestations in rare diseases Global Private non-for-profit
Schleswig-Holstein cancer registry National Public
STEP Registry: Registry for rare tumors in children and adolescents National Public
STER: FVII deficiency treatment international registry Global Public
TIRCON: NBIA (Neurodegeneration with Brain Iron Accumulation) patient registry and biobank
Global Public
Tumor Registry of Lymphatic Neoplasia (TNL-Registry): Epidemiological registry describing treatment reality and therapy modalities of patients with malignant Lymphatic Systemic Diseases (Non-Hodgkin`s Lymphoma, Chronic Lymphocytic Leukemia and Multiple Myeloma) requiring therapy
National Private for-profit
Von Hippel-Lindau registry Regional Public
DK - DENMARK (4 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Danish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
Danish malignant hyperthermia registry - contributes to the European Malignant Hyperthermia Group (EMHG)
National Public
Funen county registry of congenital anomalies - contributes to the EUROCAT network Regional Public
Mendelian cytogenetics network online database National Public
EE - ESTONIA (3 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Estonian cancer registry - contributes to the RARECARE project National Public
Estonian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
Estonian Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contribuiting to EURO-WABB
European Public
ES - SPAIN (46 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
aHUS/C3G: Database of atypical hemolytic uremic syndrome and C3 glomerulonephritis National Public
ECEMC: Registry of the Spanish Collaborative Study of Congenital Malformations National Not defined
ERCUSYN: European registry on Cushing's syndrome Global Public
EUGINDAT-PIADATABASE: European primary inherited aminoacidurias database European Not defined
EUROMAC: Registry of patients affected by McArdle Disease European Public
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - ES
European Public
Fanconi anemia patient registry database National Public
Population registry of rare diseases and congenital anomalies of Cantabria (Spain) Regional Public
Population registry of rare diseases of Balearic Islands (Spain) Regional Public
Population registry of rare diseases of Navarra (Spain) Regional Public
RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network
Regional Public
Rare disease registry of Aragon (Spain) Regional Public
19http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
REDAPED: Spanish registry of ataxias and degenerative spastic paraparesis National Public
REDIP: Spanish registry of primary immunodeficiencies - contributes to the ESID European registry
National Public
REEG: Spanish Gaucher's disease registry National Private non-for-profit
Registro MEN: Spanish registry of multiple endocrine neoplasia National Public
Registry for rare diseases in Andalusia (Spain) Regional Public
Registry for rare diseases in Extremadura (Spain) Regional Public
REHAP: Spanish Registry of Pulmonary Arterial Hypertension National Public
REHEVASC: Spanish registry for hepatic vascular diseases National Public
REHIPED - Spanish Registry for Pediatric Pulmonary Hypertension National Public
RenalTube: Spanish patient registry of primary tubulopathies National Public
REPA: Spanish registry of alveolar proteinosis National Public
RERGA: Registry for rare diseases in Galicia (Spain) Regional Public
RETEGEP: Spanish Registry of Gastroenteropancreatic Neuroendocrine Tumors National Private non-for-profit
REWBA: Spanish Registry of Wolfram, Bardet-Biedl and Alstrom syndromes National Public
SIER: Information System on rare diseases in the Region of Murcia (Spain) Regional Public
SIER-CV: Information System on rare diseases in Valencian Community (Spain) Regional Public
SIERMA: Information system on rare diseases in Madrid (Spain) Regional Public
Spanish alpha-1 antitrypsin deficiency registry (REDAAT) - contributes to the Alpha One International Registry (AIR)
National Private non-for-profit
Spanish Overgrowth Syndrome Registry National Public
Spanish patient registry for spinal muscular atrophy - part of the TREAT-NMD network National Public
Spanish patient registry of ataxias National Private non-for-profit
Spanish patient registry of hereditary angioedema National Public
Spanish patient registry of hereditary retinal dystrophy National Public
Spanish patient registry of myelodysplasic syndromes National Private non-for-profit
Spanish patient registry of rare diseases: multiple endocrine neoplasia, acromegaly and enteropancreatic endocrine tumors.
National Public
Spanish patient registry of transmissible spongiform encephalopathies National Public
Spanish Registry of Cushing Syndrome - contributes to ERCUSYN National Private non-for-profit
Spanish registry of Duchenne muscular dystrophy - part of the TREAT-NMD network National Public
Spanish registry of lymphangioleiomyomatosis National Public
Spanish registry of patients with McArdle disease National Private for-profit
Spanish registry of pulmonary Langerhans cell histiocytosis National Public
Spanish registry of rare diseases National Public
Spanish registry of renal hereditary diseases National Public
Spanish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
FI - FINLAND (7 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Finnish cancer registry - contributes to the RARECARE project National Public
Finnish Hematology Register and Biobank - FHRB National Public
Finnish IPF registry National Public
Finnish patient registry on Fabry disease National Public
Finnish TREAT-NMD Patient Registry National Private non-for-profit
Register of Congenital Malformations National Public
The Finnish Register of Visual Impairment National Private non-for-profit
20http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
FR - FRANCE (132 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Aquitaine registry of mesothelioma Regional Public
Auvergne registry of congenital anomalies - contributes to the EUROCAT network Regional Public
Bas-Rhin registry of congenital anomalies - contributes to the EUROCAT network Regional Public
Basse Normandie registry of hematological malignancies Regional Public
BLAU registry: French pediatric granulomatous arthritis registry National Public
Breast and other gynecological cancers registry of Côte-d'Or Regional Public
CEREDIH: French primary immunodeficiencies registry National Public
CoF-AT study: a French cohort on ataxia-telangiectasia National Public
Cohort of patients affected by Marfan or related syndrome National Public
Cohort of patients with hereditary dystrophies of retina Not defined Public
Côte d'Or registry of hematological malignancies Regional Public
Cystadane post marketing registry of patient with homocystinuria European Private for-profit
D[4]/Phenodent: French registry of patients affected by rare odontologic diseases National Public
Duchenne and Becker muscular dystrophy patient registry in France - part of the TREAT-NMD network
National Public
EDMUS - NOMADMUS: French cohort of Devic's neuromyelitis optica and related neurological disorders
National Public
EDMUS: European Database for Multiple Sclerosis and other related diseases European Public
EHN - EURO-HISTIO-NET: European registry of Langerhans Cell Histiocytosis European Public
ENET Registry: European Neuro-Endocrine Tumors Group National Public
EPI-EPNET: European hepatic and erythropoietic porphyrias registry European Public
EPIMAD: registry of chronic inflammatory intestine diseases in North-West Regional Public
Escort-Hu: European sickle cell disease cohort- hydroxyurea European Private for-profit
Establishment of children and adolescents cohort in Behcet disease in France National Public
EU-CHS: European central hypoventilation syndrome registry European Public
EURECHINOREG: European registry of alveolar echinococcosis European Public
European multicenters SCLS (systemic capillary leak syndromes) registry European Public
European prospective registry of children born to mothers affected by the antiphospholipids syndrome
European Public
EUROTRAPS: European patient registry on TRAPS syndrome European Public
FranceCoag: French prospective cohort of patients affected with haemophilia or severe form of other hereditary hemorrhagic diseases except platelet disorders
National Public
French acromegaly registry National No defined
French addictive acute intoxications cohort National Public
French atypical sarcoïdosis clinical forms registry National Public
French auto-immunity and Rituximab (AIR) registry: prospective study of patients treated with Rituximab
National Public
French central hypoventilation syndrome registry - will contribute to the European CHS registry
National Public
French certified patient registry for Langerhans cell histiocytosis National Public
French certified registry of glycogen storage disease type 2 National Public
French certified registry of patients affected by Gaucher disease National Public
French certified registry of patients affected by thalassemia National Public
French cohort creation in retinitis pigmentosa National Public
French cohort for auto-inflammatory diseases National Public
French cohort in genetic microcephalies National Public
French cohort in primary ciliary dyskinesia National Public
21http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
French cohort of acquired autoimmune haemolytic anemia National Public
French cohort of Castleman's disease National Public
French cohort of common variable immunodeficiency with hypogammaglobulinemia in adults (CVID)
National Public
French cohort of focal dystonia famillies National Public
French cohort of idiopathic pulmonary fibrosis National Public
French cohort of inflammatory bowel disease (IBD) National Public
French cohort of rare diabetes (neonatal diabetes, monogenic, atypical and syndromic forms)
National Public
French cohort of rhombencephalosynapsis National Public
French cohort of Usher syndrome National Public
French Cohorts in Sneddon syndrome and suspected Sneddon syndrome livedo National No defined
French constitutive hematologic diseases registry National Public
French cystic fibrosis cohort and CFTR-RD cohort National Public
French cystic fibrosis patient registry National Public
French cystinosis registry National Public
French Disease Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributes to EURO-WABB
National Public
French epidemiological registry of esophageal atresia National Public
French familial cardiac malformations registry National Public
French National Lymphangioleiomyomatosis Registry (RE-LAM-CE) National Public
French national patients registry on rare peritoneal tumor RENAPE National Public
French observatory of biliary atresia National Public
French observatory of gastric linitis plastica National Public
French observatory of primary biliary cirrhosis National Public
French observatory of primitive sclerosing cholangitis National Public
French patient registry affected by genetic deafness in France National Public
French patient registry in chorioretinopathy, birdshot type National Public
French pediatric registry of rituximab treated patients affected by severe systemic diseases - contributes to the French AIR registry
National Public
French prospective cohort follow-up of children under the age of 18 with autoimmune cytopenia
National Public
French Register of Amyotrophic Lateral Sclerosis National Public
French register of the SDH-related hereditary paraglioma National Public
French registry for macrophagic myofasciitis National Public
French registry for right arrythmogenic ventricular dysplasia (ARVC/D) National Public
French Registry of Atypical Hemolytic Uremic Syndrome (aHUS) in Children National Public
French registry of autosomal recessive polycystic kidney disease National Public
French registry of child hematological malignancies National Public
French registry of children solid tumors National Public
French registry of corticosteroid-sensitive aseptic abscess National Public
French registry of familial and premature prostate cancers (before 50 years) National Public
French registry of generalized resistance to thyroid hormone National Public
French registry of hereditary dyslipidemia in children: familial combined dyslipidemias National Public
French registry of Iron overload genetic rare diseases, non-related to the HFE gene National Public
French registry of Kabuki syndrome National Public
French registry of Marshall's syndrome with periodic fever National Public
French registry of neuromuscular diseases from reference centres National Public
22http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
French registry of patients affect by Leber amaurosis and retinitis pigmentosa to assess the clinical trial in gene therapy
National Public
French registry of rare genetic metabolism disorders of steroids - contributing to the international RGSDC registry
National Public
French registry of rare hypersomnias National Public
French registry of rare pulmonary hypertension (HTAP) National Public
French registry of tetrahydrobiopterin deficiencies National Public
French severe chronic neutropenia certified patient registry - contributes to the SCN international registry (SCNIR)
National Public
French sickle cell anemia registry National Public
French Still disease patient registry National Public
French Williams syndrome cohort National Public
FROG: FRench Observatory on Gaucher disease National Private for-profit
GENEPSO: French epidemiological cohort of BRCA systemic mutations carriers National Public
Gironde registry of hematological malignancies Regional Public
GMF: French registry of myelodysplastic syndromes and leukemia chemo- and radio-induced
National Public
GTE: French registry of endocrine tumors National Public
Idiopathic pulmonary fibrosis: Cohort studies for evaluation of pronostic factors, therapeutic evaluation
National Public
ITINERAIR-HTAP: French cohort of adult with pulmonary arterial hypertension National Private for-profit
ITINERAIR-pediatrie: French cohort of children with pulmonary arterial hypertension National Private for-profit
ITINERAIR-scleroderma: French pulmonary arterial hypertension screening cohort of patients with scleroderma
National Private for-profit
KAWA-NET: epidemiological database of Kawasaki disease in France National Public
La Réunion Fench Island registry of congenital anomalies - contributes to the EUROCAT network
Regional Public
LEA: children and adolescents with acute leukemia : propective cohort in France National Public
Left ventricular noncompaction French registry National Public
Mesothelioma cohort in Seine Saint-Denis and Val de Marne Regional Public
Myotonic dystrophy patient registry in France - part of the TREAT-NMD network National Public
National database for the study and follow-up of paediatric rare tumors. National Public
Paris registry of congenital anomalies - contributes to the EUROCAT network Regional Private for-profit
PGRx : Immune thrombocytopenic purpura (ITP) Global Private non-for-profit
PGRx : Lupus Global Private non-for-profit
PGRx : Myositis Global Private non-for-profit
PGRx: Suspected rheumatoid arthritis Global Private non-for-profit
PHA1-NET: PseudoHypoAldosteronism type 1 cohort National Public
POLA: French patient registry of high level oligodendroglioma National Public
Primary central nervous system tumors registry of Gironde Regional Public
Regional registry of thyroid cancers in Rhône-Alpes Regional Public
Registre multicentrique à vocation nationale des mésothéliomes pleuraux (registre qualifié)
National Public
Registry and pronostic cohort of cutaneous lymphomas in Aquitaine Regional Public
Registry for digestive cancers in Burgundy Regional Public
Registry of digestive tumors in Calvados (province of France) Regional Public
Registry of hereditary Haemochromatosis of the Languedoc Roussillon (including rare forms non-HFE hemochromatosis)
Regional Public
Registry of observed trichinellosis cases in France yearly National Public
Registry of the network studying thrombotic microangiopathies National Public
23http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Rhône-Alpes registry of congenital anomalies - contributes to the EUROCAT network Regional Public
Rhône-Alpes registry of systemic mastocytosis Regional Public
SCETIDE - Stem CEll Transplant for primary Immune Deficiencies in Europe European Public
SYRENE: Rett syndrome network - French database of clinical and genetic aspects of Rett syndrome
National Public
UMD-SMN1 France National Public
VALID: cohort creation on Budd-Chiari syndrome, hepatic venooclusive disease, hepatoportal sclerosis and portal vein thrombosis
European Public
Vedrop registry of chronic cholestasis patient with vitamin E deficiency European Private for-profit
GR - GREECE (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Greek cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit
Greek severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)
National Public
HR - CROATIA (1 registry)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Croatian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit
HU - HUNGARY (5 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Hungarian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
Hungarian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit
DMD registry - Hungary - contributes to the TREAT-NMD network Global Public
National NF Register National Private for-profit
SMA registry Hungary - contributes to the TREAT-NMD network National Public
IE - IRELAND (11 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
CFRI: The Cystic Fibrosis Registry of Ireland - contributes to the EUROCARE CF registry National Not defined
Dublin registry of congenital anomalies - contributes to the EUROCAT network Regional Public
Galway registry of congenital anomalies - contributes to the EUROCAT network Regional Public
Irish myelodysplastic syndromes specific registry National Public
Irish registry for Bernard-Soulier syndrome National Public
Irish registry of amyotrophic lateral sclerosis and motor neurone disease National Public
Irish registry of Hurler syndrome National Public
Irish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
National Irish alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)
National Not defined
South East of Ireland registry of congenital anomalies - part of BINOCAR and EUROCAT network
Regional Public
24http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
South of Ireland registry of congenital anomalies - contributes to the EUROCAT network
Regional Public
IL - ISRAEL (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Israeli cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit
Israelian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
IS - ICELAND (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Icelander cancer registry - contributes to the RARECARE project National Public
Icelander cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit
IT - ITALY (71 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
AICE: Italian registry of hemophilia centre National Public
AIR: Italian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry
National Public
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical registry and database, evaluation of therapies
National Public
Campania registry of congenital anomalies - contributes to the EUROCAT network Regional Public
Development of the Italian National Registry for FSHD National Public
Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Italy - contributes to the TREAT-NMD network
National Not defined
EIMD: European registry and network for intoxication type metabolic diseases European Public
Enroll-HD - A Prospective Registry Study in a Global HD Cohort Global Public
EUROFEVER: European registry for autoinflammatory diseases Global Public
EUROWILSON: Registry and network to improve the management of Wilson Disease European Public
FMF: Italian registry for familial mediterranean fever in the young National Public
Friedreich's ataxia Italian patient registry National Private non-for-profit
GLATIT: Glanzmann thrombasthenia Italian registry National Public
HAE-registry: European hereditary angioedema patient registry European Public
IBAHC: Italian registry for alternating hemiplegia of childhood National Not defined
INNCB MG Registry National Public
International registry of bone fragility fractures in the young Global Public
International Registry of congenital dyserythropoietic anemia II Global Public
International Registry of Rare Bleeding Disorders (RBDD) Global Not defined
International registry of recurrent and familial hemolytic uremic syndrome/thrombotic thrombocytopenic purpura
Global Private non-for-profit
IPERN: Registro di pazienti affetti da atrite giovanile idiopatica trattati con anti-TNF National Public
ISMAC: Sicilian registry of congenital anomalies - contributes to the EUROCAT network Regional Public
Italian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
Italian genetic movement disorders registry National Public
Italian HLH Registry National Public
25http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Italian LCH Registry National Public
Italian Li-Fraumeni syndrome registry National Public
Italian neuroblastoma registry National Public
Italian registry for MYH9-related thrombocytopenia National Public
Italian Registry for patients with Shwachman Diamond Syndrome National Public
Italian Registry of adult patients affected by familial mediterranean fever National Public
Italian registry of congenital nephrotic syndromes National Public
Italian registry of Creutzfeldt-Jakob disease and correlated syndromes National Public
Italian registry of diffuse infiltrative pneumopathies National Public
Italian registry of hemolytic uremic syndrome National Not defined
Italian registry of hypertrophic cardiomyopathy in Anderson-Fabry disease National Private non-for-profit
Italian registry of Legionellosis National Public
Italian Registry of membranoproliferative glomerulonephritis National Private non-for-profit
Italian registry of muscle channel-diseases National Public
Italian registry of myotonic dystrophies National Public
Italian registry of patients and families affected by Pseudoxanthoma Elasticum National Public
Italian registry of skeletal dysplasia National Public
Italian retinoblastoma registry National Public
MITOCON: National registry mitochondrial disease National Public
MODY: Italian registry of maturity onset diabetes of the young National Public
National registry of Rare Diseases National Public
North-east Italy registry of neurofibromatosis Regional Public
North-East of Italy registry of congenital anomalies - contributes to the EUROCAT network
Regional Public
RAM-NET: Italian registry of patients with neuromuscular diseases - contributes to Treat-NMD european network
National Private non-for-profit
Regional registry for neuromuscular disorders Regional Public
Regional Registry Rare Diseases of Puglia Region (SIMaRRP) Regional Private non-for-profit
Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributing to EURO-WABB
European Public
Registry of inherited bleeding disorders in Emilia Romagna region Regional Public
Registry of pregnant patients affected by essential thrombocythemia National Not defined
Registry of steroid-resistant nephrotic syndrome Not defined Private non-for-profit
REM: Multiple Osteochondromas Registry National Public
Rett Syndrome Database National Public
RIAF: Fanconi's anemia Italian registry National Public
RIAT: Ataxia teleangiectasia Italian registry National Public
RIMM: Italian registry for myelofibrosis with myeloid metaplasia National Public
RISMD: Italian myelodysplastic syndromes registry National Not defined
RNIC: National Registry of Infant with Congenital Hypothyroidism National Not defined
ROI: Osteogenesis Imperfecta Registry Not defined Public
SCNIR: Italian severe chronic neutropenia registry - contributes to the SCN international registry
National Public
Telethon-UILDM registry CMD (Congenital Muscular Dystrophy) - contributes to european Treat-NMD network
National Public
Telethon-UILDM registry FSHD (Facioscapulohumeral dystrophy) - contributes to european Treat-NMD network
National Public
Telethon-UILDM registry LGMD (Limb Girdle Muscular Dystrophy) - contributes to european Treat-NMD network
National Public
26http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
TTP: International registry on thrombotic thrombocytopenic purpura Global Not defined
Tuscany Registry of Rare Diseases Regional Public
Venetian registry of rare diseases Regional Public
V-RIAT: variant Ataxia telangiectasia Italian registry National Public
LT - LITHUANIA (1 registry)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATIONLithuanian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit
LU - LUXEMBOURG (1 registry)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Luxembourgers cystic fibrosis patient registry - contributes to the EUROCARE CF registry
National Private for-profit
LV - LATVIA (1 registry)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Latvian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit
MK - REPUBLIC OF MACEDONIA (1 registry)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Macedonian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit
MT - MALTA (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
MALTA CONGENITAL ANOMALIES REGISTRY (MCAR) - it contributes to EUROCAT National Public
Maltese cancer registry - contributes to the RARECARE project National Public
NL - NETHERLANDS (25 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
CONCOR: Dutch registry of patients with a congenital heart malformation National Private for-profit
DDRMD - Dutch Diagnosis Registration Metabolic Diseases National Public
Duchenne and Becker muscular dystrophy patient registry in the Netherlands - part of the TREAT-NMD network
National Public
Dutch alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)
National Public
Dutch cystic fibrosis patient registry - contributes to the European ECFS patient registry
National Not defined
Dutch patient registry for Fabry disease National Public
Dutch patient registry for Gaucher disease National Public
Dutch patient registry for Niemann-Pick Disease Type B National Public
Dutch patient registry for Niemann-Pick Disease Type C National Public
27http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Dutch severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
ECARUCA: cytogenetic and clinical database on rare chromosomal disorders European Public
EPCOT: European prospective cohort on thrombophilia European Private for-profit
ESPN/ERA-EDTA Registry: European Registry for Children on Renal Replacement Therapy
European Public
European Parathyroid Tumor Registry Global Public
International Dystrophic Epidermolysis Bullosa Patient Registry Global Public
North Netherlands registry of congenital anomalies - contributes to the EUROCAT network
Regional Public
PAN research: Prospective amyotrophic lateral sclerosis (ALS) study Netherlands National Public
PHARMACHILD patient registry: Long-term pharmacovigilance for adverse effects in childhood arthritis, focusing on immune modulatory drugs (part of PRINTO network)
Global Public
RP5000 database: Dutch registry for Inherited Retinal Dystrophies National Public
STRIVE: A Long-term, Multi-center, Longitudinal Post-marketing, Observational Registry to Assess Long Term Safety and Effectiveness of HUMIRA® (Adalimumab) in Children With Moderately to Severely Active Polyarticular or Polyarticular-course Juvenile Idiopathic Arthritis (JIA) - NL
Global Public
The intenational Pompe registry Global Private for-profit
The International Collaborative Gaucher Group (ICGG) Gaucher registry Global Private for-profit
The international Fabry registry Global Private for-profit
The international Mps I registry Global Private for-profit
X-ALD: X-linked adrenoleukodystrophy database European Public
NO - NORWAY (7 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
EURADRENAL: European patient registry on autoimmune Addison's disease (sera, DNA and RNA)
European Public
European Porphyria Registry (EPR) European Public
HUE-MAN patient registry on alpha mannosidosis European Public
Norvegian Porphyria Registry National Public
Norwegian cancer registry - contributes to the RARECARE project National Public
Norwegian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
Norwegian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
PL - POLAND (10 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Cracow cancer registry - contributes to the RARECARE project Regional Public
EHDN: Observational Study of the European Huntington's Disease Network European Public
Kielce cancer registry - contributes to the RARECARE project Regional Public
Mazovian Cancer Registry - contributes to the RARECARE project Regional Public
Polish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
Polish Registry of Patients with Neuromuscular Diseases contributes to the TREAT-NMD network
National Public
Polish registry of primary immunodeficiencies - contributes to the ESID European registry
National Public
28http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Polish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
PRCM: Polish registry of congenital malformations - contributes to the EUROCAT network
National Public
Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
European Public
PT - PORTUGAL (16 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Açores regional cancer patient registry (RORA) Regional Public
Adrenal tumor national registry National Public
Central regional cancer patient registry Regional Public
Duchenne and Becker muscular dystrophy patient registry in Portugal - contributes to the TREAT-NMD network
National Public
North regional cancer registry (RORENO) Regional Public
Pituitary tumors national registry National Public
Portuguese cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit
Portuguese Fabry patient registry - contributing to the international Fabry registry National Public
Portuguese registry for alpha-1 antitrypsin deficiency National Public
Portuguese registry for bronchiectasis National Private non-for-profit
Portuguese registry of primary immunodeficiency diseases (REPORID) National Public
Portuguese Rett syndrome registry National Public
Portuguese severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)
National Public
RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT network)
National Public
Southern Portugal cancer registry - contributes to the RARECARE project Regional Public
Vila Nova de Gaia regional cancer registry (ROG) Regional Public
RO - ROMANIA (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Romanian biliary atresia registry National Public
Romanian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private non-for-profit
RS - SERBIA (4 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Serbian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
Serbian registry of patients with rare bleeding disorders - contributes to the RBDD international registry
National Public
Serbian registry of hemophilia and von Willebrand disease patients National Public
Serbian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
29http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
SE - SWEDEN (18 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
FOS : Fabry Outcome Survey Global Private for-profit
HOS : Hunter Outcome Survey Global Private for-profit
IOS : Icatibant Outcome Survey for hereditory angioedema Global Private for-profit
National registry on bronchopulmonary dysplasia National Public
SPAHR: Swedish Pulmonary Arterial Hypertension Registry National Public
SWEDCON: Swedish Registry of Congenital Heart Disease National Public
Swedish Acute Lymphoblastic Leukemia Registry National Public
Swedish Acute Myelogenous Leukemia Registry National Public
Swedish alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)
National Public
Swedish and Finnish registry of CADASIL patients European Public
Swedish Childhood Cancer Registry National Public
Swedish Chronic Myeloid Leukemia Registry National Public
Swedish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
Swedish Multiple Myeloma Registry National Public
Swedish Polyposis Registry National Public
Swedish Registry for Familial Amyloid Polyneuropathy National Public
Swedish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
SWEDROP: Swedish Registry for Retinopathy of Prematurity National Private for-profit
SI - SLOVENIA (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Slovenian cancer registry - contributes to the RARECARE project National Private for-profit
Slovenian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
SK - SLOVAKIA (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
National cancer registry (contributes to the RARECARE project) National Public
Slovak cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
TR - TURKEY (4 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Database setup for the visualisation and examination of oral ulcers in Behcet disease patients
National Public
Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Turkey - contributes to the TREAT-NMD network
National Private for-profit
Turkish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public
Turkish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
30http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
UA - UKRAINE (1 registry)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
Spinal muscular atrophy patient registry in Ukraine - part of the TREAT-NMD network National Private for-profit
UK - UNITED KINGDOM (86 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION
ADVATE Hemophilia A Outcome Database (AHEAD) - UK National Public
AOMIC: adult onset myositis immunogenetic collaboration National Public
Batten Disease Neuronal Ceroid Lipofuscinosis (NCL) Patient Registry National Public
BPOLD: British Paediatric Orphan Lung Disease Registry National Public
CARIS - Welsh registry of congenital anomalies - part of BINOCAR and EUROCAT network
Regional Public
CAROBB - congenital anomalies registry for Oxfordshire, Berkshire & Buckinghamshire - part of the BINOCAR and EUROCAT network
Regional Public
CCRN 1055: Osteonecrosis of the Jaw (ONJ) Case Registry Global Not defined
CCRN 1076: A multi-centre safety registry for malaria patients treated with EurartesimTM
National Not defined
CCRN 1093 (aHUS): An observational, non-interventional multicenter, multinational study of patients with Atypical HemolyticUremic Syndrome (aHUS Registry)
Global Not defined
CCRN 2421 (Noonan/RASopathy patients): A registry study to characterize genetic and pathway biomarkers in Noonan syndrome and other RASopathy patients - UK
Global Not defined
CCRN 2536 (Idiopathic pulmonary fibrosis): Post-Authorisation Safety Study of Esbriet® (Pirfenidone): A Prospective Observational Registry to Evaluate Long-Term Safety in a Real-World Setting
National Not defined
CCRN 3119 (Spondyloarthritis): Patients with axial spondyloarthritis: multicountry registry of clinical characteristics, including radiographic progression, and burden of disease over 5 years in reallife setting
National Not defined
CCRN 995 (European Adrenal Insufficiency): A European multi-centre, multi-country, post-authorisation, observational study (registry) of patients with chronic adrenal insufficiency - UK
National Not defined
CRANE: patients registry with cleft lip and/or cleft palate in England and Wales National Public
DRN 377: Clinical Register for Transient Neonatal Diabetes National Public
DYSCERNE's dysmorphology diagnostic system (DDS) European Public
EBV associated NK/T cell malignancies registry National Public
EHDN: registry of juvenile Huntington's disease Global Public
EHR: European Haemoglobinopathy Registry European Public
EIMD: European registry and network for intoxication type metabolic diseases European Public
EMSYCAR - East Midlands & South Yorkshire congenital anomalies registry - part of BINOCAR and EUROCAT network
Regional Public
English alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)
National Public
English cystic fibrosis database National Public
English cystic fibrosis patient registry - contributes to the EUROCARE CF and ECFS registries
National Public
English cystinosis registry National Not defined
English hereditary angioedema patient registry - part of the HAE European registry National Public
English hyperoxaluria registry National Not defined
31http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
English juvenile dermatomyositis registry and repository National Public
English mucopolysaccharidosis registry National Not defined
English phenylketonuria registry National Public
English registry for lymphangioleiomyomatosis National Public
English registry of biliary atresia - contributes to the EBAR registry National Public
English registry of syndromes with abnormal vertebral segmentation National Public
English registry of Wolf-Hirschhorn syndrome National Public
English severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
National Public
Enroll-HD: A Prospective Registry Study in a Global Huntingtons Disease Cohort European Public
ERNEST - European Registry for Myeloproliferative Neoplasms towards a better understanding of Epidemiology, Survival and Treatment
European Private for-profit
EUMDS: European Registry for Myelodysplastic Syndromes - part of EuroLeukemiaNet (ELN)
European Public
Euro HD Registry 3 - REGISTRY- A study by the European Huntingtons Disease Network (EHDN)
European Public
EURO WILSON: Creating a European Clinical Database and designing randomised controlled clinical trials for Wilson disease - UK
National Not defined
EURODSD: European disorders of sexual development registry (FINISHED) European Not defined
EUROPAC: the European registry of hereditary pancreatitis and familial pancreatic cancer
European Public
European Prader-Willi syndrome database European Public
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - UK
European Public
Familial Ovarian Cancer Register (FOCR) National Public
Glasgow registry of congenital anomalies - part of BINOCAR and EUROCAT network Regional Public
Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
Global Public
Great Ormond Street Hospital Congenital Melanocytic Naevus Registry National Public
Health Agents: Agent-based distributed decison support system for brain tumour and diagnosis and prognosis
Global Not defined
Hunter Outcome Survey (HOS): patient registry Global Public
I-DSD: Disorders of sexual development registry Global Public
LCH: English Langerhans cell histiocytosis registry National Public
MCRN078 (E2080-E044-401): European Registry of Anti-Epileptic Drug Use in Patients with Lennox-Gastaut Syndrome - UK
National Public
Merseyside and Cheshire registry of congenital anomalies -part of BINOCAR and EUROCAT network
Regional Public
Myotonic dystrophy patient registry in United Kingdom - part of the TREAT-NMD network
National Public
National Congenital Anomaly System (NCAS) - part of BINOCAR and EUROCAT network Regional Public
NDSCR - National Down syndrome cytogenetic registry - part of BINOCAR and EUROCAT network
National Public
NHD: the national haemophilia database National Not defined
NHR: National Haemoglobinopathy Registry National Public
NorCAS - Northern registry of congenital anomalies - part of BINOCAR and EUROCAT network
Regional Public
Regional spinocerebellar ataxia registry Regional Public
32http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Registry for Patients with Niemann-Pick Type C Disease Not defined Not defined
SWCAR - South West congenital anomalies registry - part of BINOCAR and EUROCAT network
Regional Public
The Alström syndrome UK (ASUK) Clinical Research Database National Public
The International GNE Myopathy Registry - Hereditary Inclusion Body Myopathy-Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective Observational Natural History Study to Assess HIBM Disease (part of the TREAT-NMD network) - UK
National Public
The MTM and CNM Registry - The Myotubular and Centronuclear Myopathy Patient Registry
National Public
The National Chronic Granulomatous Disease Registry National Public
UK & Ireland Fanconi Anaemia Registry National Public
UK and Ireland Duchenne and Becker muscular dystrophy patient registry (part of the TREAT-NMD network)
National Not defined
UK and Ireland Spinal muscular atrophy (SMA) patient registry (part of the TREAT-NMD network)
National Public
UK Dyskeratosis Congenita (DC) registry National Public
UK Huntington disease registry (collaborating with the EHDN/Euro HD Registry) National Public
UK Myotonic dystrophy type I patient registry (part of the TREAT-NMD network) National Public
UK national Acromegaly patient register National Public
UK Neurofibromatosis 2 (NF2) Patient Registry National Public
UK Paediatric ITP (Immune Thrombocytopenic Purpura) Registry National Public
UK Registry for Central Hypoventilation Syndrome (CHS) National Public
UK renal rare disease registry National Private for-profit
UK Thrombotic Thrombocytopenia Purpura (UKTTP) Registry National Public
UKAITPR: United Kingdom adult idiopathic thrombocytopenic purpura registry National Public
UKCCCR: English familial ovarian cancer patient registry National Not defined
UKESR: United Kingdom Evans Syndrome Registry National Public
UKFITPR: United Kingdom familial idiopathic thrombocytopenic purpura (ITP) Registry National Public
United Kingdom neuromyelitis optica registry National Public
WANDA - Wessex registry of antenatally detected anomalies - part of BINOCAR and EUROCAT network
Regional Public
West Midlands registry of congenital anomalies - part of BINOCAR and EUROCAT network
Regional Public
33http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
European registries
EUROPEAN REGISTRIES (45 registries)ENGLISH LABEL OF THE ACTIVITY COORDINATION AFFILIATION
Cystadane post marketing registry of patient with homocystinuria FR Private for-profit
DYSCERNE's dysmorphology diagnostic system (DDS) GB Public
ECARUCA: cytogenetic and clinical database on rare chromosomal disorders NL Public
EDMUS: European Database for Multiple Sclerosis and other related diseases FR Public
EHDN: Observational Study of the European Huntington's Disease Network PL Public
EHN - EURO-HISTIO-NET: European registry of Langerhans Cell Histiocytosis FR Public
EHR: European Haemoglobinopathy Registry GB Public
EIMD: European registry and network for intoxication type metabolic diseases GB Public
EIMD: European registry and network for intoxication type metabolic diseases IT Public
EMBARC - European Bronchiectasis Registry - project member germany DE Public
Enroll-HD: A Prospective Registry Study in a Global Huntingtons Disease Cohort GB Public
EPCOT: European prospective cohort on thrombophilia NL Private for-profit
EPI-EPNET: European hepatic and erythropoietic porphyrias registry FR Public
ERNEST - European Registry for Myeloproliferative Neoplasms towards a better understanding of Epidemiology, Survival and Treatment
GB Private for-profit
Escort-Hu: European sickle cell disease cohort- hydroxyurea FR Private for-profit
ESPN/ERA-EDTA Registry: European Registry for Children on Renal Replacement Therapy
NL Public
Estonian Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contribuiting to EURO-WABB
EE Public
EU-CHS: European central hypoventilation syndrome registry FR Public
EUGINDAT-PIADATABASE: European primary inherited aminoacidurias database ES Not defined
EUMDS: European Registry for Myelodysplastic Syndromes - part of EuroLeukemiaNet (ELN)
GB Public
EURADRENAL: European patient registry on autoimmune Addison's disease (sera, DNA and RNA)
NO Public
EURECHINOREG: European registry of alveolar echinococcosis FR Public
Euro HD Registry 3 - REGISTRY- A study by the European Huntingtons Disease Network (EHDN)
GB Public
EURODSD: European disorders of sexual development registry (FINISHED) GB Not defined
EUROMAC: Registry of patients affected by McArdle Disease ES Public
EUROPAC: the European registry of hereditary pancreatitis and familial pancreatic cancer
GB Public
European multicenters SCLS (systemic capillary leak syndromes) registry FR Public
European Porphyria Registry (EPR) NO Public
European Prader-Willi syndrome database GB Public
European prospective registry of children born to mothers affected by the antiphospholipids syndrome
FR Public
EUROTRAPS: European patient registry on TRAPS syndrome FR Public
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - ES
ES Public
34http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - UK
GB Public
EUROWILSON: Registry and network to improve the management of Wilson Disease IT Public
German epilepsy registry DE Public
HAE-registry: European hereditary angioedema patient registry IT Public
HUE-MAN patient registry on alpha mannosidosis NO Public
PFAPA Registry: Periodic fever aphtous stomatitis, pharyngitis and adenopathy patient registry
CH Not defined
Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributing to EURO-WABB
IT Public
Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
PL Public
SCETIDE - Stem CEll Transplant for primary Immune Deficiencies in Europe FR Public
Swedish and Finnish registry of CADASIL patients SE Public
VALID: cohort creation on Budd-Chiari syndrome, hepatic venooclusive disease, hepatoportal sclerosis and portal vein thrombosis
FR Public
Vedrop registry of chronic cholestasis patient with vitamin E deficiency FR Private for-profit
X-ALD: X-linked adrenoleukodystrophy database NL Public
35http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
International registries
INTERNATIONAL REGISTRIES (71 registries)ENGLISH LABEL OF THE ACTIVITY COORDINATION AFFILIATION
ARegPKD - an international registry study for autosomal recessive polycystic kidney disease
DE Public
CCRN 1055: Osteonecrosis of the Jaw (ONJ) Case Registry GB Not defined
CCRN 1093 (aHUS): An observational, non-interventional multicenter, multinational study of patients with Atypical HemolyticUremic Syndrome (aHUS Registry)
GB Not defined
CCRN 2421 (Noonan/RASopathy patients): A registry study to characterize genetic and pathway biomarkers in Noonan syndrome and other RASopathy patients - UK
GB Not defined
CEDATA-GPGE: Registry of Children with Inflammatory Bowel Disease in Germany and Austria
DE Public
CPT-SIOP-Registry : International Registry for Choroid Plexus Tumors DE Public
CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in children, adolescents, and young adults
DE Public
DMD registry - Hungary - contributes to the TREAT-NMD network HU Public
DÖSAK tumor registry for documentation of tumors of the face and jaws in germany, austria and switzerland
DE Public
EBAR: European Biliary Atresia Registry DE Public
EHDN: European Huntington's disease registry DE Public
EHDN: neuroacanthocytosis patient registry DE Public
EHDN: registry of juvenile Huntington's disease GB Public
EIMD: European registry and network for intoxication type metabolic diseases DE Public
EMSA-SG: central patient registry of the European multiple system atrophy network AT Public
ENETS: European Neuroendocrine Tumour Registry DE Public
ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood AT Private non-for-profit
Enroll-HD - A Prospective Registry Study in a Global HD Cohort IT Public
ERCUSYN: European registry on Cushing's syndrome ES Public
ESID: European registry of primary immunodeficiencies DE Public
EUNEFRON: registry of the European network for the study of orphan nephropathies BE Public
EU-RHAB: European Rhabdoid Tumor Registry DE Public
eurIPFreg: European idiopathic pulmonary fibrosis registry DE Public
EUROFA - EFACT: European Friedreich Ataxia Registry DE Public
EUROFEVER: European registry for autoinflammatory diseases IT Public
EUROGLYCANET - International patient registry and cohort for congenital disorders of glycosylation
BE Private for-profit
European chILD-registry and biobank of the european network for children's interstitial lung diseases (chILD-EU).
DE Public
European Parathyroid Tumor Registry NL Public
EUROSCA-R: European patient registry on spinocerebellar ataxias DE Public
EUTOS: European chronic myeloid leukemia patient registry (collaboration between the European LeukemiaNet and Novartis Europe)
DE Public
FOS : Fabry Outcome Survey SE Private for-profit
36http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
GB Public
Health Agents: Agent-based distributed decison support system for brain tumour and diagnosis and prognosis
GB Not defined
HOS : Hunter Outcome Survey SE Private for-profit
Hunter Outcome Survey (HOS): patient registry GB Public
I-DSD: Disorders of sexual development registry GB Public
International Dystrophic Epidermolysis Bullosa Patient Registry NL Public
International pheochromocytoma and paraganglioma registry DE Public
International registry of bone fragility fractures in the young IT Public
International Registry of congenital dyserythropoietic anemia II IT Public
International Registry of Rare Bleeding Disorders (RBDD) IT Not defined
International registry of recurrent and familial hemolytic uremic syndrome/thrombotic thrombocytopenic purpura
IT Private non-for-profit
IOS : Icatibant Outcome Survey for hereditory angioedema SE Private for-profit
Kids Lung Register: International register and biobank for rare lung diseases DE Public
KINDLERNET: Central patient registry Kindler syndrome DE Public
MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease DE Public
NCL-Registry: International neuronal ceroid lipofuscinoses patient registry DE Public
Nephronophthisis registry for patients in germany, austria and switzerland DE Public
NHL-BFM Registry 2012: Registry of the NHL-BFM study group for all subtypes of Non-Hodgkin Lymphoma diagnosed in children and adolescents
DE Public
OSTEOPETR: International registry of patients suffering from osteopetrosis DE Public
Pediatric granulomatous arthritis international registry BE Private for-profit
Perihilar Cholangiocarcinoma International Registry CH Public
PGRx : Immune thrombocytopenic purpura (ITP) FR Private non-for-profit
PGRx : Lupus FR Private non-for-profit
PGRx : Myositis FR Private non-for-profit
PGRx: Suspected rheumatoid arthritis FR Private non-for-profit
PHARMACHILD patient registry: Long-term pharmacovigilance for adverse effects in childhood arthritis, focusing on immune modulatory drugs (part of PRINTO network)
NL Public
PNH Registry: Paroxysmal Nocturnal Hemoglobinuria registry CH Private for-profit
PODONET: Registry for Steroid-Resistant Nephrotic Syndrome (SRNS) patients DE Public
RegiSCAR: International registry of severe cutaneous adverse reactions (SCAR) to drugs and collection of biological samples - patient registry
DE Public
Register for rare myeloproliferative neoplasms DE Public
RetDis Database: clinical descriptions of patients and families with inherited eye diseases
DE Public
ROMSE: German patient registry of orofacial manifestations in rare diseases DE Private non-for-profit
STER: FVII deficiency treatment international registry DE Public
STRIVE: A Long-term, Multi-center, Longitudinal Post-marketing, Observational Registry to Assess Long Term Safety and Effectiveness of HUMIRA® (Adalimumab) in Children With Moderately to Severely Active Polyarticular or Polyarticular-course Juvenile Idiopathic Arthritis (JIA) - NL
NL Public
The intenational Pompe registry NL Public
The International Collaborative Gaucher Group (ICGG) Gaucher registry NL Private for-profit
The international Fabry registry NL Private for-profit
37http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015
Editor-in-chief: Ana Rath Editor of the report: Sandra Peixoto Visual design : Julie Christ Photography : Patrice Latron / Inserm
The correct form when quoting this document is:
« Rare Disease Registries in Europe », Orphanet Report Series, Rare Diseases collection, January 2015http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf
For any questions or comments, please contact us: [email protected]
The international Mps I registry NL Private for-profit
TIRCON: NBIA (Neurodegeneration with Brain Iron Accumulation) patient registry and biobank
DE Public
TTP: International registry on thrombotic thrombocytopenic purpura IT Not defined