Rare Disease Registries in Europe

Transcription

1 January 2015 Rare Disease Registries in Europe

2 Table of contents Methodology 3 List of rare diseases that are covered by the listed registries 4 Summary Distribution of registries by country Distribution of registries by coverage Distribution of registries by affiliation 14 Distribution of registries by country 15 European registries 38 International registries 41 2

3 Methodology 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: contact.orphanet@inserm.fr 3

4 List of rare diseases that are covered by the listed registries ORPHA C syndrome ,XX disorder of sex development ,XX disorder of sex development induced by androgens excess ,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 ,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 Aceruloplasminemia 462 Achondroplasia Achromatopsia 2207 Ackerman syndrome Acquired chronic primary adrenal insufficiency 861 Acrocraniofacial dysostosis 3082 Acrodermatitis enteropathica 1789 Acrofacial dysostosis, Catania type 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 Acrokeratoderma 1518 Acromegaloid facial appearance syndrome 463 Acromegaly 1522 Acromicric dysplasia 1511 Acroosteolysis dominant type 1524 Acrorenal syndrome 1513 Acro-renal-mandibular syndrome ACTH-dependent Cushing syndrome 318 Acute erythroid leukemia Acute generalized exanthematous pustulosis Acute intermittent porphyria Acute interstitial pneumonia 513 Acute lymphoblastic leukemia 518 Acute megakaryoblastic leukemia ORPHA 514 Acute monoblastic leukemia 519 Acute myeloid leukemia 517 Acute myelomonocytic leukemia Acute opioid poisoning 520 Acute promyelocytic leukemia Acyl-CoA dehydrogenase deficiency Adamantinoma Addison disease 3710 Adducted thumbs - arthrogryposis, Christian type 8641 Adenosine monophosphate deaminase deficiency Adrenal/paraganglial tumor 1501 Adrenocortical carcinoma 2792 Adult familial nephronophthisis - spastic quadriparesia 1530 ADULT syndrome 829 Adult-onset Still disease Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia 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-dwarfismintellectual 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 Amelogenesis imperfecta 1558 Amelogenesis imperfecta - nephrocalcinosis 1748 Aminopterin/methotrexate embryofetopathy 312 Amyotrophic lateral sclerosis 1245 Androgen insensitivity syndrome ANE syndrome ORPHA 417 Angelman syndrome 1572 Ankyloblepharon - ectodermal defects - cleft lip/palate 1587 Anonychia - microcephaly 2858 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies 1593 Anophthalmia plus syndrome 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 Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities Auriculoocular anomalies - cleft lip Autoimmune hemolytic anemia 2554 Autoimmune polyendocrinopathy type Autoimmune thrombocytopenia Autoinflammatory syndrome 8734 Autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia type Autosomal dominant cerebellar ataxia type Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures 4

5 ORPHA 4048 Autosomal dominant hyper-ige syndrome 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 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 B-cell chronic lymphocytic leukemia B-cell prolymphocytic leukemia Becker muscular dystrophy 8722 Beckwith-Wiedemann syndrome 1658 Beemer-Ertbruggen syndrome 8663 Behçet disease 38 Bernard-Soulier syndrome 1309 Beta-thalassemia 16 Bethlem myopathy Bilateral microtia - deafness - cleft palate 2427 Bilateral renal agenesis Biliary atresia 3002 Birdshot chorioretinopathy 161 Blackfan-Diamond anemia 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 Bone sarcoma 1670 Böök syndrome 293 Botulism 1673 Bowen-Conradi syndrome ORPHA 1691 Brachymorphism - onychodysplasia - dysphalangism 3195 Branchio-oculo-facial syndrome 1697 Branchio-skeleto-genital syndrome Bronchial endocrine tumor 1303 Bronchiolitis obliterans with obstructive pulmonary disease Bronchopulmonary dysplasia 8029 Budd-Chiari syndrome 703 Bullous pemphigoid 543 Burkitt lymphoma 1359 C syndrome C3 glomerulonephritis 1313 CADASIL Calciphylaxis 1706 Cantrell pentalogy Capillary malformation - arteriovenous malformation 42 Carbamoyl-phosphate synthase deficiency 1220 Cardiocranial syndrome, Pfeiffer type 1365 Carey-Fineman-Ziter syndrome Carney-Stratakis syndrome 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 CD4+/CD56+ hematodermic neoplasm 3243 Central core disease 595 Centronuclear myopathy 1933 Cerebral gigantism - jaw cysts 329 Cerebro-costo-mandibular syndrome Char syndrome 183 Charcot-Marie-Tooth disease 3244 CHARGE syndrome 1311 Cherubism 3474 CHIME syndrome 3395 Choanal atresia-deafness-cardiac defectsdysmorphism syndrome 5530 Cholestasis - pigmentary retinopathy - cleft palate Chondrosarcoma 1248 Choroideremia Christianson syndrome Chromosomal anomaly 5532 Chronic granulomatous disease 521 Chronic myeloid leukemia Chronic primary adrenal insufficiency Citrullinemia type I CLAPO syndrome ORPHA 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 Colchicine poisoning Cold-induced sweating syndrome 1081 Colonic atresia 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 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 Congenital heart malformation 671 Congenital hypothyroidism Congenital limb malformation Congenital muscular dystrophy Congenital muscular dystrophy due to dystroglycanopathy Congenital myotonia 839 Congenital nephrotic syndrome, Finnish type Congenital non-bullous ichthyosiform erythroderma 3386 Congenital pulmonary airway malformation Congenital pulmonary alveolar proteinosis 123 Congenital pulmonary lymphangiectasia 5

6 ORPHA 372 Congenital pulmonary venous return anomaly 3035 Congenital systemic veins anomaly Congenital vitamin K-dependent coagulation factors deficiency 812 Congenitally uncorrected transposition of the great arteries 1334 Conotruncal heart malformations Constitutional neutropenia 1747 Contractures - ectodermal dysplasia - cleft lip/palate 3571 Cornelia de Lange syndrome 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 Craniofacial-ulnar-renal syndrome Craniopharyngioma 8556 Craniosynostosis - Dandy-Walker malformation - hydrocephalus 1056 Crohn disease 3072 Crossed polysyndactyly 665 Crouzon disease 553 Cushing syndrome Cutaneous neuroendocrine carcinoma 8708 Cystic fibrosis 378 Cystinosis 1053 Darier disease 2608 Deafness - enamel hypoplasia - nail defects Deafness - intellectual disability, Martin- Probst type 3000 Dehydratase deficiency 1652 Dent disease 1179 Dentin dysplasia Dentin dysplasia type II Dentinogenesis imperfecta 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 Desminopathy 873 Desmoid tumor Desmoplastic small round cell tumor 1666 Dextrocardia ORPHA Diaphanospondylodysostosis 3569 Diastrophic dwarfism Diffuse alveolar hemorrhage 544 Diffuse large B-cell lymphoma Digitalis poisoning 2139 Dihydropteridine reductase deficiency Disorder of amino acid absorption and transport 602 Distal myopathy, Nonaka type 18 Distal renal tubular acidosis 362 Dopa-responsive dystonia 260 Down syndrome Drug rash with eosinophilia and systemic symptoms 8548 Dubowitz syndrome 311 Duchenne and Becker muscular dystrophy 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 Ectodermal dysplasia syndrome 3439 EEC syndrome 1839 EEM syndrome Ehlers-Danlos syndrome 612 Ellis Van Creveld syndrome 1315 Emery-Dreifuss muscular dystrophy 877 Endocrine tumor Endosteal sclerosis - cerebellar hypoplasia Enlarged parietal foramina Enthesitis-related arthritis 301 Ependymal tumor Erythrokeratoderma Erythropoietic protoporphyria 8741 Esophageal atresia 3318 Essential thrombocythemia Ethylene glycol poisoning 8711 Evans syndrome 319 Ewing sarcoma 3754 Fabry disease 678 Facioscapulohumeral dystrophy 8698 Familial adenomatous polyposis Familial amyloid polyneuropathy Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Familial gastric cancer ORPHA 3338 Familial hemophagocytic lymphohistiocytosis 864 Familial hypospadias 656 Familial idiopathic steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Familial juvenile hyperuricemic nephropathy type Familial Mediterranean fever Familial medullary thyroid carcinoma 618 Familial melanoma Familial ovarian cancer 1333 Familial pancreatic carcinoma Familial papillary or follicular thyroid carcinoma Familial platelet syndrome with predisposition to acute myelogenous leukemia Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement 3497 Familial prostate cancer 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 Focal myositis 1866 Focal, segmental or multifocal dystonia 545 Follicular lymphoma 2607 Fountain syndrome Frank-Ter Haar syndrome 413 Fraser syndrome 347 Frasier syndrome 2190 Freeman-Sheldon syndrome 458 Friedreich ataxia 1919 Frontometaphyseal dysplasia Fundus albipunctatus 1925 GAPO syndrome Gastric adenocarcinoma and proximal polyposis of the stomach Gastric linitis plastica Gastroenteropancreatic endocrine tumor 6

7 ORPHA Gastrointestinal stromal tumor 97 Gastroschisis 182 Gaucher disease 2609 Generalized resistance to thyroid hormone Genetic chronic primary adrenal insufficiency Genetic neuromuscular disease 1903 Gingival fibromatosis - facial dysmorphism 1904 Gingival fibromatosis - progressive deafness 3576 Gitelman syndrome 3527 Glanzmann thrombasthenia 360 Glioblastoma 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 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency 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 Glycogen storage disease due to phosphoglycerate mutase deficiency 292 Glycogen storage disease due to phosphorylase kinase deficiency Goldberg-Shprintzen megacolon syndrome 8578 Goldenhar syndrome 1943 Gordon syndrome 244 Gorlin syndrome 1945 Gorlin-Chaudhry-Moss syndrome GRACILE syndrome 8674 Granulomatosis with polyangiitis 3520 GTP cyclohydrolase I deficiency Haddad syndrome 3611 Haim-Munk syndrome 1952 Hallermann-Streiff syndrome 2038 Harlequin ichthyosis 1957 Hartsfield-Bixler-Demyer syndrome 5519 Hemimelia Hemochromatosis type Hemoglobinopathy Hemophagocytic syndrome 853 Hemophilia ORPHA 1962 Hennekam syndrome 890 Hepatic veno-occlusive disease 3699 Hepatoblastoma Hepatocellular carcinoma Hepatoportal sclerosis Hereditary angioedema 2997 Hereditary breast and ovarian cancer syndrome Hereditary breast cancer 401 Hereditary chronic pancreatitis Hereditary coproporphyria 1902 Hereditary gingival fibromatosis 346 Hereditary hemorrhagic telangiectasia 523 Hereditary leiomyomatosis and renal cell cancer 2902 Hereditary nonpolyposis colon cancer Hereditary palmoplantar keratoderma Hereditary pheochromocytomaparaganglioma 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 Hurler syndrome 1072 Hydrocephalus with stenosis of the aqueduct of Sylvius 1991 Hydrolethalus 3209 Hyperammonemia due to N-acetylglutamate synthetase deficiency 866 Hyperornithinemia-hyperammonemiahomocitrullinuria 2705 Hyperostosis corticalis generalisata Hyperparathyroidism-jaw tumor syndrome Hyperphenylalaninemia Hypersensitivity pneumonitis 3437 Hypertelorism, Teebi type 2003 Hypertelorism-microtia-facial clefting syndrome 2010 Hypertrichosis lanuginosa congenita 725 Hypoglossia - hypodactyly 1790 Hypomandibular faciocranial dysostosis Hypomyelination - hypogonadotropic hypogonadism - hypodontia 8748 Hypophosphatasia 708 Hypoplastic left heart syndrome 2667 Hypoplastic tibiae - postaxial polydactyly ORPHA 3654 Hypotrichosis-intellectual disability, Lopes type Ichthyosis 8531 Idiopathic achalasia Idiopathic bronchiectasis Idiopathic eosinophilic pneumonia Idiopathic hypersomnia Idiopathic inflammatory myopathy Idiopathic interstitial pneumonia 747 Idiopathic pulmonary alveolar proteinosis 2032 Idiopathic pulmonary fibrosis Idiopathic pulmonary hemosiderosis 3337 Immune thrombocytopenic purpura 8695 Immunoglobulin A vasculitis Inborn errors of metabolism 4028 Inclusion body myositis 3752 Incontinentia pigmenti 1641 Infantile onset spinocerebellar ataxia Inflammatory pseudotumor of the liver Inherited cancer-predisposing syndrome Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited epidermolysis bullosa Inherited nervous system cancerpredisposing syndrome Inherited renal cancer-predisposing syndrome 3540 Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus 3574 Interauricular communication Interstitial lung disease Interstitial lung disease specific to adulthood Intestinal polyposis syndrome 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 Joubert syndrome with renal defect 2068 Juberg-Hayward syndrome Juvenile dermatomyositis 7

8 ORPHA Juvenile Huntington disease 831 Juvenile hyaline fibromatosis 8585 Juvenile idiopathic arthritis Juvenile polymyositis Juvenile rheumatoid factor-negative polyarthritis Juvenile rheumatoid factor-positive polyarthritis 837 Kabuki syndrome 2906 Kallmann syndrome Kaposi's sarcoma 164 Kapur-Toriello syndrome 8713 Kawasaki disease 3189 KBG syndrome 8559 KID syndrome 2908 Kindler syndrome Klatskin tumor Kleine-Levin syndrome 2084 Kousseff syndrome 5545 Lacrimoauriculodentodigital syndrome 8721 Lamellar ichthyosis 389 Langerhans cell histiocytosis 357 Large congenital melanocytic nevus 8551 Larynx atresia Lathosterolosis 3057 Leber congenital amaurosis Left ventricular noncompaction 957 Legionellosis Legius syndrome Lelis syndrome 8661 Lennox-Gastaut syndrome 1185 Lethal restrictive dermopathy Leukocyte adhesion deficiency type III Leukoencephalopathy - ataxia - hypodontia - hypomyelination 951 Li-Fraumeni syndrome 3090 Limb body wall complex 263 Limb-girdle muscular dystrophy Limb-mammary syndrome 867 Lymphangioleiomyomatosis Lysosomal glycogen storage disease 592 Macrophagic myofasciitis Macrostomia - preauricular tags - external ophthalmoplegia 8542 Malaria 679 Malignant atrophic papulosis 190 Malignant hyperthermia Malignant melanoma of the mucosa MALT lymphoma 2138 Mandibuloacral dysplasia Mantle cell lymphoma 2142 Marden-Walker syndrome 1473 Marfan syndrome ORPHA 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 Melanoma of soft parts Melanoma-pancreatic cancer syndrome Mesothelioma Metaphyseal chondrodysplasia, Jansen type Methanol poisoning 234 Methylmalonic acidemia with homocystinuria Methylmalonic aciduria due to transcobalamin receptor defect 2178 Microbrachycephaly - ptosis - cleft lip 788 Microcephaly - cleft palate Microcytic anemia with liver iron overload 2822 Microgastria - limb reduction defect 1083 Microlissencephaly 3089 Microphthalmia - cataract 201 Microphthalmia, Lenz type Microtia Mitochondrial disease Mitochondrial disease with dilated cardiomyopathy 552 MODY 3340 Moebius syndrome 243 Monosomy 5p Motor neuron disease 1972 Mowat-Wilson syndrome Mucopolysaccharidosis Muenke syndrome Multiple congenital anomalies/dysmorphic syndrome 460 Multiple endocrine neoplasia type Multiple myeloma 2904 Multiple osteochondromas Multiple sclerosis variant 102 Multiple system atrophy 588 Muscle-eye-brain disease Muscular channelopathy 2530 Myasthenia gravis Myelodysplastic syndrome 824 Myelofibrosis with myeloid metaplasia Myeloproliferative neoplasm MYH9-related disease 3663 Myhre syndrome Myotonic dystrophy Naegeli-Franceschetti-Jadassohn syndrome ORPHA 3556 Nager syndrome 1255 Nance-Horan syndrome Narcolepsy without cataplexy 2073 Narcolepsy-cataplexy 509 Nasopalpebral lipoma - coloboma - telecanthus 3543 Nasopharyngeal carcinoma 8534 Nemaline myopathy 8690 Nephroblastoma 223 Nephrogenic diabetes insipidus Nephrogenic systemic fibrosis 655 Nephronophthisis 2260 Neu-Laxova syndrome 2699 Neural tube defect Neuroacanthocytosis 1036 Neuroblastoma 514 Neurocutaneous melanocytosis 1045 Neurodegeneration with brain iron accumulation 2262 Neurofaciodigitorenal syndrome 3462 Neurofibromatosis type Neurofibromatosis type Neurofibromatosis type Neurofibromatosis type Neuromuscular disease Neuromyelitis optica 924 Neuronal ceroid lipofuscinosis Niemann-Pick disease type B 8692 Niemann-Pick disease type C 2557 Nijmegen breakage syndrome Nodal marginal zone B-cell lymphoma 547 Non-Hodgkin lymphoma Non-Langerhans cell histiocytosis Non-secreting paraganglioma Non-specific interstitial pneumonia Non-syndromic congenital cataract 10 Noonan syndrome 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 Oculo-oto-facial dysplasia 2288 Oculo-palato-cerebral syndrome 2291 Oculotrichodysplasia Odontoleukodystrophy 8

9 ORPHA 2295 Odonto-onycho-dermal dysplasia 2297 Odontotrichomelic syndrome Odonto-tricho-ungual-digito-palmar syndrome 2897 Okamoto syndrome Oligodendroglial tumor 64 Omphalocele 2309 Ondine syndrome 2313 Ophthalmomandibulomelic dysplasia 3013 Optic pathway glioma 8569 Ornithine transcarbamylase deficiency Orofacial clefting syndrome 2318 Orofaciodigital syndrome type Orofaciodigital syndrome type Orofaciodigital syndrome type Orofaciodigital syndrome type Orofaciodigital syndrome type Oromandibular-limb hypogenesis syndrome Ossification anomalies - psychomotor development delay 1251 Osteodysplasty, Melnick-Needles type 852 Osteogenesis imperfecta 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 Overgrowth syndrome 2063 Pachyonychia congenita 489 Pai syndrome Pancreatic tumor 950 Pancreatoblastoma 134 Papillary or follicular thyroid carcinoma 2354 Papilloma of choroid plexus 2355 Papillon-Lefèvre syndrome Paraquat poisoning 143 Parathyroid carcinoma 712 Paroxysmal nocturnal hemoglobinuria 1330 Partial atrioventricular canal 3334 Patent arterial duct Pediatric hepatocellular carcinoma Pediatric systemic lupus erythematosus 954 Pemphigus vulgaris 3498 Perlman syndrome 1287 Peters plus syndrome 1039 Peutz-Jeghers syndrome PFAPA syndrome 690 Phenylketonuria ORPHA 2393 Pierre Robin syndrome - faciodigital anomaly Pituitary adenoma Pleuropulmonary blastoma Plummer-Vinson syndrome 2407 Poland syndrome 8583 Polymyositis Porokeratosis 1025 Porphyria Porphyria cutanea tarda Porphyria variegata 854 Portal vein thrombosis 3249 Postaxial acrofacial dysostosis Postaxial polydactyly of fingers 2136 Prader-Willi syndrome Preaxial polydactyly of fingers Precursor B-cell acute lymphoblastic leukemia 8594 Primary biliary cirrhosis Primary central nervous system lymphoma 1314 Primary ciliary dyskinesia 541 Primary cutaneous CD30+ T-cell lymphoproliferative disease 2963 Primary cutaneous lymphoma 416 Primary hyperoxaluria Primary immunodeficiency Primary lateral sclerosis Primary malignant peritoneal tumor Primary membranoproliferative glomerulonephritis 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 Pseudohypoaldosteronism type Pseudoxanthoma elasticum Pulmonary arterial hypertension 466 Pycnodysostosis 764 Pyomyositis Qualitative or quantitative defects of dystrophin Qualitative or quantitative defects of FKRP Qualitative or quantitative defects of sarcoglycan Radial hemimelia 2476 Ramon syndrome Rare ataxia Rare bone disease ORPHA Rare bone tumor Rare breast tumor Rare bronchopulmonary tumor Rare constitutional anemia Rare developmental defect during embryogenesis Rare digestive tumor Rare disease Rare dyslipidemia Rare epilepsy Rare eye disease Rare gastroesophageal tumor Rare genetic deafness Rare genetic diabetes mellitus Rare genetic disease Rare genetic eye disease Rare genetic hematologic disease Rare genetic renal disease Rare hematologic disease Rare hemorrhagic disorder Rare hemorrhagic disorder due to a coagulation factors defect Rare hemorrhagic disorder due to a constitutional coagulation factors defect Rare hemorrhagic disorder due to a constitutional platelet anomaly Rare hemorrhagic disorder due to a constitutional thrombocytopenia Rare hepatic and biliary tract tumor Rare hereditary hemochromatosis Rare hereditary thrombophilia Rare inflammatory bowel disease Rare maxillo-facial surgical disease Rare nervous system tumor Rare odontologic disease Rare otorhinolaryngologic tumor Rare ovarian cancer Rare primary hyperaldosteronism Rare pulmonary disease Rare pulmonary hypertension Rare renal disease Rare renal tubular disease Rare rheumatological disease of childhood Rare skin tumor or hamartoma Rare soft tissue tumor Rare tumor Rare urogenital tumor Rare vascular liver disease RAS-associated autoimmune leukoproliferative disease Recurrent respiratory papillomatosis Regional odontodysplasia 2626 Renpenning syndrome Retinal dystrophy 9

10 ORPHA 8652 Retinitis pigmentosa 8627 Retinoblastoma Retinopathy of prematurity 8670 Rett syndrome Rhabdoid tumor Rheumatoid arthritis Rhombencephalosynapsis RHYNS syndrome 1372 Ring chromosome Robinow syndrome Rosselli-Gulienetti syndrome 555 Rothmund-Thomson syndrome 907 Rubinstein-Taybi syndrome 3114 Ruvalcaba syndrome Saldino-Mainzer syndrome 8653 Sarcoidosis 2085 Schilbach-Rott syndrome 131 Schizencephaly 923 Schwartz-Jampel syndrome 8625 Scleroderma 2560 Sclerosteosis Segmental odontomaxillary dysplasia 1965 Senior-Loken syndrome 2564 Septo-optic dysplasia 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 Sickle cell disease and related diseases 225 Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome type Singleton-Merten dysplasia 766 Sjögren syndrome 49 Sjögren-Larsson syndrome 818 Smith-Lemli-Opitz syndrome 2952 Sneddon syndrome 8726 Sotos syndrome Sparse hair - short stature - skin anomalies Spinocerebellar ataxia type Splenic marginal zone lymphoma 2129 Split hand-split foot malformation Sporadic idiopathic steroid-resistant nephrotic syndrome Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis ORPHA 2593 Stern-Lubinsky-Durrie syndrome 1167 Steroid dehydrogenase deficiency - dental anomalies Stevens-Johnson syndrome Syndromic X-linked intellectual disability due to JARID1C mutation 188 Systemic capillary leak syndrome 429 Systemic lupus erythematosus 603 Systemic mastocytosis Systemic non-langerhans cell histiocytosis 2946 Systemic primary carnitine deficiency Systemic sclerosis 2304 Taurodontia - absent teeth - sparse hair T-cell large granular lymphocyte leukemia T-cell prolymphocytic leukemia 1784 Temtamy syndrome 883 Teratoma 842 Testicular seminomatous germ cell tumor 3327 Tetralogy of Fallot Therapy related acute myeloid leukemia and myelodysplastic syndrome Thiamine-responsive megaloblastic anemia syndrome 2107 Thickened earlobes - conductive deafness Thrombotic microangiopathy Thrombotic thrombocytopenic purpura Thymic tumor Thymoma Thyroid tumor 2665 Tibial aplasia - ectrodactyly Toxic epidermal necrolysis Transient neonatal diabetes mellitus Transmissible spongiform encephalopathy TRAPS syndrome 804 Treacher-Collins syndrome 3723 Trichinellosis 567 Tricho-dento-osseous syndrome Trichothiodystrophy 2431 Triphalangeal thumbs - brachyectrodactyly Trisomy 10p 1417 Trisomy 12p 205 Trisomy Trisomy Truncus arteriosus Tumor of hematopoietic and lymphoid tissues Typical hemolytic-uremic syndrome Urogenital tract malformation 6520 Usher syndrome Squamous cell carcinoma of head and Uveal melanoma neck 1286 Van der Woude syndrome SRD5A3-CDG Vascular tumor 3316 Stargardt disease Vasculitis 6018 Steinert myotonic Orphanet dystrophy Report Series - Rare Disease Registries in Europe - January ORPHA 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 X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration X-linked intellectual disability, Armfield type X-linked intellectual disability, Cabezas type X-linked intellectual disability, Siderius type X-linked intellectual disability, Stevenson type 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

11 Summary 1- Distribution of registries by country COUNTRY REGIONAL NATIONAL EUROPEAN GLOBAL NOT DEFINED AT - Austria BE - Belgium BG - Bulgaria CH - Switzerland* CY - Cyprus CZ - Czech Republic DE - Germany DK - Denmark EE - Estonia ES - Spain FI - Finland FR - France GR - Greece HR - Croatia HU - Hungary IE - Ireland IL - Israel* IS - Iceland* IT - Italy LT - Lithuania LU - Luxembourg LV - Latvia MK - Republic of Macedonia* MT - Malta NL - Netherlands NO - Norway* PL - Poland PT - Portugal RO - Romania RS - Serbia* SE - Sweden SI - Slovenia SK - Slovakia TR - Turkey* UA - Ukraine* UK - United Kingdom TOTAL TOTAL *surrounding countries participating to the Orphanet consortium 11

12 2- Distribution of registries by coverage COVERAGE NUMBER OF REGISTRIES Regional European 45 Global 71 4 TOTAL Distribution of registries by affiliation 5% 5% 8% 82% Private non-for-profit Private for-profit 12

13 Distribution of registries by country AT - AUSTRIA (17 registries) Austrian acromegaly registry Austrian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR) Austrian cancer registry - contributes to the RARECARE project Austrian chronic myeloid leukemia registry Austrian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Private for-profit Austrian GIST registry Private non-for-profit Austrian Haemophilia Registry Austrian Huntington disease registry Private for-profit Austrian myeloma registry Private non-for-profit Austrian registry for inborn errors of metabolism Austrian severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR) EB Registry EMSA-SG: central patient registry of the European multiple system atrophy network Global ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood Global Private non-for-profit MDS: Austrian myelodysplastic syndromes patient registry Registry for histiocytic disorders (on behalf of the Austrian Society for Hematology & Oncology) Styrian registry of congenital anomalies - contributes to the EUROCAT network Regional BE - BELGIUM (21 registries) 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) Belgian contribution to the international rare bleeding disorders registry (RBDD) Belgian cystic fibrosis patient registry (BMR-RBM) - contributes to the EUROCARE CF and the ECFS registries Private non-for-profit Belgian familial adenomatous polyposis registry Private non-for-profit Belgian Neuromuscular Disease Registry Belgian patient database for Wilson disease - contributes to the EuroWilson registry (terminated) Belgian registry of primary immunodeficiencies - contributes to the ESID European registry Belgian rituximab therapy registry for immune anemia and thrombocytopenia Belgian severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR) Private for-profit Belgian sickle cell anemia registry Belgian systemic sclerosis cohort 13

14 Central Registry Rare Diseases ENRAH: Belgian contribution to European registry for alternating hemiplegia in childhood EUNEFRON: registry of the European network for the study of orphan nephropathies Global EURECHINOREG: Belgian contribution to the European registry of human alveolar echinococcosis EUROGLYCANET - International patient registry and cohort for congenital disorders of glycosylation Global Private for-profit Haemoglobinopathies - database Private for-profit Hainault and Namur registry of congenital anomalies - contributes to the EUROCAT network Regional LCH: Belgian Langerhans cell histiocytosis registry Pediatric granulomatous arthritis international registry Global Private for-profit BG - BULGARIA (11 registries) Bulgarian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Bulgaria - part of the TREAT-NMD network registry of adult patients with chronic myeloid leukemia - BG registry of patients with Crohn disease - BG registry of patients with Gaucher disease - BG registry of patients with mucopolysaccharidosis type II (MPS2) - BG registry of patients with phenylketonuria - BG registry of patients with primary immunodeficiencies (PID) - BG registry of patients with thalassaemia major - BG registry of patients with Wilson disease - BG The Bulgarian genetic registry of monogenic disorders Private for-profit CH - SWITZERLAND (11 registries) EUROCAT (Switzerland, Vaud) - Registry of congenital malformations of canton Vaud Regional Perihilar Cholangiocarcinoma International Registry Global PFAPA Registry: Periodic fever aphtous stomatitis, pharyngitis and adenopathy patient registry European PNH Registry: Paroxysmal Nocturnal Hemoglobinuria registry Global Private for-profit Swiss alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR) Swiss Cleft Lip and Palate Registry Swiss cystic fibrosis patient registry - contributes to the EUROCARE CF registry Swiss patient registry for Duchenne/Becker Muscular Dystrophy and Spinal Muscular Atrophy - contributes to the TREAT - NMD network Swiss registries for Interstitial and Orphan Lung Diseases (SIOLD Registries) Swiss registry of biliary atresia - contributes to the EBAR registry SwissNET - Registry for Neuroendocrine Tumours in Switzerland 14

15 CY - CYPRUS (2 registries) Cyprian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Private for-profit NMDcy: Cypriot Neuromuscular Diseases - contributes to TREAT-NMD Private for-profit CZ - CZECH REPUBLIC (4 registries) Czech cystic fibrosis patient registry - contributes to the EUROCARE CF registry Czech severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) Duchenne and Becker muscular dystrophy patient registry in the Czech Republic and Slovakia - contributes to the TREAT-NMD network Spinal muscular atrophy patient registry in the Czech Republic - part of the TREAT- NMD network Private for-profit Private for-profit DE - Germany (116 registries) DE- AID-NET : Registry for autoinflammatory syndromes ALS registry Nordrhein-Westfalen Regional ALS registry Rheinland-Pfalz Regional ALS registry swabia Regional AML-BFM Registry 2012: Clinical registry for children and adolescents with acute myeloid leukemia ARegPKD - an international registry study for autosomal recessive polycystic kidney disease Global Ataxia-Telangiectasia patient registry - contributes to the ESID Database Bayern population based cancer registry Bremen cancer registry CEDATA-GPGE: Registry of Children with Inflammatory Bowel Disease in Germany and Austria Global Central Cutaneous Lymphoma Registry Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network Regional Child liver tumor registry Childrens IBD registry in Saxony Regional CMMR: Central Malignant Melanoma Registry in germany Common cancer registry of Berlin, Brandenburg, Mecklenburg-Western Pomerania, Saxony-Anhalt and the free states Saxony and Thuringia Conn Registry: German registry of primary aldosteronism Core documentation of rheumatic children in germany CPT-SIOP-Registry : International Registry for Choroid Plexus Tumors Global CURE-Net : registry for congenital uro-rectal malformations CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in children, adolescents, and young adults 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 DÖSAK tumor registry for documentation of tumors of the face and jaws in germany, austria and switzerland Global Global 15

16 Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Austria and Germany - part of the TREAT-NMD network EBAR: European Biliary Atresia Registry Global EHDN: European Huntington's disease registry Global EHDN: neuroacanthocytosis patient registry Global EIMD: European registry and network for intoxication type metabolic diseases Global EKRS: Saarland Cancer Registry - contributes to the RARECARE Project Regional Private non-for-profit EMBARC - European Bronchiectasis Registry - project member germany European ENETS: European Neuroendocrine Tumour Registry Global Epidemiological cancer registry Baden-Württemberg Regional ESID: European registry of primary immunodeficiencies Global EU-RHAB: European Rhabdoid Tumor Registry Global euripfreg: European idiopathic pulmonary fibrosis registry Global EUROFA - EFACT: European Friedreich Ataxia Registry Global European child-registry and biobank of the european network for children's interstitial lung diseases (child-eu). Global EUROSCA-R: European patient registry on spinocerebellar ataxias Global EUTOS: European chronic myeloid leukemia patient registry (collaboration between the European LeukemiaNet and Novartis Europe) Global FACE - registry for Robin sequence GeNeMove: German database for wilson disease German acromegaly registry German adrenal tumors registry Private non-for-profit German AID (Autoinflammatory disorders) registry - subproject AID-NET German alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR) German calciphylaxis registry German central registry for Sickle cell disease German childhood cancer registry (Partner of ACCIS: Automated Childhood Cancer Information System) German cystic fibrosis registry - contributes to the EUROCARE CF registry German epilepsy registry European German Fanconi anemia registry German gastrointestinal stromal tumor registry German Haemophilia Registry (DHR) German marginal zone lymphoma registry German mucopolysaccharidosis patient registry German multiple endocrine neoplasia type 1 (MEN 1) registry German national case collection of familial pancreatic cancer German paroxysmal nocturnal hemoglobinuria registry German pituitary tumors registry Private non-for-profit German registry for congenital heart defects - part of the competence network for congenital heart defects German registry for congenital thrombocytopenia Private non-for-profit German registry for Morbus Adamantiades-Behçet e.v. German registry for papulosis atrophicans maligna German severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR) German vasculitis registry 16

17 GMALL-registry: registry for adult patients with acute lymphoblastic leukemia or related diseases GOLDnet: Registry for Diffus Parenchymal Lung Disease GPOH-MET Registry: Registry for children and adolescents with malignant endocrine tumour Hamburg cancer registry HepNet: German hepatocellular carcinoma (HCC) registry International pheochromocytoma and paraganglioma registry Global INVM (Isolated Noncompaction of Ventricular Myocardium) registry Private for-profit Kids Lung Register: International register and biobank for rare lung diseases Global KINDLERNET: Central patient registry Kindler syndrome Global LBL Registry: Registry for children with lymphoblastic lymphoma LCH: German Langerhans cell histiocystosis registry Lupus nephritis registry (established by the german paediatric nephrology association) Mainz registry of congenital anomalies - contributes to the EUROCAT network Regional MAISTHRO-Registry : multicentric thrombophilia registry (MAIn-ISar-THROmbose-Register) MCR - Munich cancer registry MDS: German myelodysplastic syndromes patient registry MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease Global Nationa CMT-patient registry germany - part of the TREAT-NMD network FKRP-patient registry germany - part of the TREAT-NMD network nephrogenic systemic fibrosis registry registry for Blackfan-Diamond disease NCL-Registry: International neuronal ceroid lipofuscinoses patient registry Global Nephronophthisis registry for patients in germany, austria and switzerland Global NET-Registry: German neuroendocrine gastrointestinal tumors Neuro-Heart-Registry: Registry for patients with heart involment in neurovascular diseases Neuromyelitis optica patient registry NHL-BFM Registry 2012: Registry of the NHL-BFM study group for all subtypes of Non- Hodgkin Lymphoma diagnosed in children and adolescents Global NIRK: national central registry for ichthyoses and related keratinization disorders NIRK: patient registry for autosomal recessive congenital ichthyosis NKR: German registry for adrenocortical carcinoma OSTEOPETR: International registry of patients suffering from osteopetrosis Global Patient registry for primary hyperoxaluria - contributes to the OxalEurope-Network Patient registry of the German Network for Systemic Scleroderma PID-NET: registry of primary immunodeficiencies PODONET: Registry for Steroid-Resistant Nephrotic Syndrome (SRNS) patients Global PSHN Registry - Purpura Schoenlein-Henoch-Nephritis registry of the German society for paediatric nephrology (GPN) RAMEDIS : Rare Metabolic Diseases Database RegiSCAR: International registry of severe cutaneous adverse reactions (SCAR) to drugs and collection of biological samples - patient registry Global Register for rare myeloproliferative neoplasms Global Registry for congenital melanocytic nevi and neurocutaneous melanocytosis Registry for Merkel Cell Carcinoma Registry for patients with mitochondrial diseases (mitoregister) - subproject of mitonet 17

18 Registry for Patients with WT1 Mutation Associated Diseases RetDis Database: clinical descriptions of patients and families with inherited eye diseases ROMSE: German patient registry of orofacial manifestations in rare diseases Global Private non-for-profit Global Schleswig-Holstein cancer registry STEP Registry: Registry for rare tumors in children and adolescents STER: FVII deficiency treatment international registry Global TIRCON: NBIA (Neurodegeneration with Brain Iron Accumulation) patient registry and biobank 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 Global Von Hippel-Lindau registry Regional Private for-profit DK - DENMARK (4 registries) Danish cystic fibrosis patient registry - contributes to the EUROCARE CF registry Danish malignant hyperthermia registry - contributes to the European Malignant Hyperthermia Group (EMHG) Funen county registry of congenital anomalies - contributes to the EUROCAT network Regional Mendelian cytogenetics network online database EE - ESTONIA (3 registries) Estonian cancer registry - contributes to the RARECARE project Estonian cystic fibrosis patient registry - contributes to the EUROCARE CF registry Estonian Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contribuiting to EURO-WABB European ES - SPAIN (46 registries) ahus/c3g: Database of atypical hemolytic uremic syndrome and C3 glomerulonephritis ECEMC: Registry of the Spanish Collaborative Study of Congenital Malformations ERCUSYN: European registry on Cushing's syndrome Global EUGINDAT-PIADATABASE: European primary inherited aminoacidurias database European EUROMAC: Registry of patients affected by McArdle Disease European EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - ES European Fanconi anemia patient registry database Population registry of rare diseases and congenital anomalies of Cantabria (Spain) Regional Population registry of rare diseases of Balearic Islands (Spain) Regional Population registry of rare diseases of Navarra (Spain) Regional RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network Regional Rare disease registry of Aragon (Spain) Regional 18