Disease - Clinical trilas for the 333 intractable diseases designated by the Ministry of Health, Labour and Welfare (MHLW), Japan 

Total::231 / 333 diseases, 30,029 clinical trials, 19,030 drugs (DrugBank: 2,001 drugs), 581 drug target genes, 286 drug target pathways

ID Disease name Clinical trial
Phase 1 / 2 / 3 / 4
Drug
[ DrugBank ]
Target gene
Target pathway
Domestic patients (1) MHLW,
(2) Med expenses recipients (2019)
Related info
(in Japanese)
 1 Spinal and bulbar muscular atrophy
"Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy-Alter-Sung syndrome"
 17 trials 
 0 / 9 / 2 / 1 
 16 drugs 
 [ 8 drugs
 10 genes 
 15 pathways 
(1) 1,223 patients
(2) 1,508 patients
Age class
Biobank
Animal model
 2 Amyotrophic lateral sclerosis
"ALS"
 508 trials 
 252 / 235 / 151 / 35 
 530 drugs 
 [ 146 drugs
 170 genes 
 221 pathways 
(1) 9,096 patients
(2) 9,894 patients
Age class
Biobank
Animal model
 3 Spinal muscular atrophy
"Myelopathic muscular atrophy", "SMA I", "Werdnig-Hoffman disease", "SMA II", "Dubowitz disease", "SMA III", "Kugelberg-Welander disease", "SMA IV"
 179 trials 
 141 / 107 / 75 / 28 
 102 drugs 
 [ 26 drugs
 52 genes 
 78 pathways 
(1) 712 patients
(2) 884 patients
Age class
Biobank
 4 Primary lateral sclerosis
"PLS"
 6 trials 
 3 / 2 / 0 / 1 
 16 drugs 
 [ 8 drugs
 19 genes 
 32 pathways 
(1) 175 patients (By the research group)
(2) 115 patients
Age class
Biobank
 5 Progressive supranuclear palsy
"PSP"
 82 trials 
 48 / 35 / 12 / 6 
 107 drugs 
 [ 36 drugs
 60 genes 
 90 pathways 
(1) About 8,100 patients
(2) 11,615 patients
Age class
Biobank
 6 Parkinson disease
 2,123 trials 
 864 / 632 / 514 / 272 
 2,046 drugs 
 [ 324 drugs
 183 genes 
 198 pathways 
(1) About 108,800 patients (estimated from Parkinson disease related diseases)
(2) 135,152 patients
Age class
Biobank
 7 Corticobasal degeneration
"Corticobasal syndrome", "CBD"
 16 trials 
 5 / 2 / 1 / 0 
 33 drugs 
 [ 11 drugs
 6 genes 
 13 pathways 
(1) 3,500 patients
(2) 4,435 patients
Age class
 8 Huntington disease
"Huntington chorea"
 197 trials 
 127 / 103 / 42 / 20 
 171 drugs 
 [ 54 drugs
 82 genes 
 144 pathways 
(1) 933 patients
(2) 911 patients
Age class
Biobank
Animal model
 9 Neuroacanthocytosis
"Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome", "Huntington disease-like 2", "HDL2", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Hallervorden-Spatz syndrome"
   (1) Less than 100 patients (By the research group)
(2) 34 patients
Age class
 10 Charcot-Marie-Tooth disease
"CMT"
 31 trials 
 23 / 16 / 16 / 4 
 38 drugs 
 [ 9 drugs
 11 genes 
 14 pathways 
(1) 6,250 patients (By the research group)
(2) 659 patients
Age class
Biobank
Animal model
 11 Myasthenia
"MG"
 226 trials 
 159 / 88 / 117 / 37 
 172 drugs 
 [ 45 drugs
 43 genes 
 118 pathways 
(1) 22,998 patients
(2) 23,973 patients
Age class
 12 Congenital myasthenic syndrome
"End-plate acetylcholine receptor deficiency", "Sodium channel myasthenia", "End-plate acetylcholine esterase deficiency", "Dok-7 myasthenia"
 5 trials 
 1 / 0 / 0 / 0 
 7 drugs 
 [ 3 drugs
 5 genes 
 12 pathways 
(1) Less than 100 patients (By the research group)
(2) 12 patients
Age class
 13 Multiple sclerosis
"Neuromyelitis optica", "MS", "NMOSD", "Devic disease", "Balo concentric sclerosis", "Baló concentric sclerosis"
 3,050 trials 
 1316 / 758 / 1042 / 507 
 2,147 drugs 
 [ 348 drugs
 244 genes 
 228 pathways 
(1) 17,073 patients
(2) 19,978 patients
Age class
Biobank
 14 Chronic inflammatory demyelinating polyneuropathy
"Chronic inflammatory demyelinating poly (radiculo) neuropathy", "Multifocal motor neuropathy", "CIDP"
 145 trials 
 60 / 69 / 71 / 18 
 139 drugs 
 [ 23 drugs
 12 genes 
 21 pathways 
(1) 4,633 patients
(2) 4,617 patients
Age class
 15 Inclusion body myositis
 39 trials 
 30 / 18 / 23 / 5 
 32 drugs 
 [ 11 drugs
 11 genes 
 119 pathways 
(1) 1,000 patients (By the research group)
(2) 573 patients
Age class
Biobank
 16 Crow-Fukase syndrome
"POEMS syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "Takatsuki disease", "PEP syndrome", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome"
 12 trials 
 0 / 9 / 2 / 0 
 18 drugs 
 [ 8 drugs
 5 genes 
 79 pathways 
(1) 340 patients (By the research group)
(2) 187 patients
Age class
 17 Multiple system atrophy
"MSA-C", "MSA-P", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome"
 107 trials 
 79 / 34 / 40 / 13 
 153 drugs 
 [ 48 drugs
 59 genes 
 104 pathways 
(1) 11,733 patients
(2) 11,387 patients
Age class
Biobank
 18 Spinocerebellar degeneration
"SCD", "Spinocerebellar ataxia type I", "SCA1", "Spinocerebellar ataxia type II", "SCA2", "Spinocerebellar ataxia type III", "SCA3", "Machado-Joseph disease", "Spinocerebellar ataxia type VI", "SCA6", "Spinocerebellar ataxia type VII", "SCA7", "Spinocerebellar ataxia type X", "SCA10", "Spinocerebellar ataxia type XII", "SCA12", "Dentatorubural pallidoluysian atrophy", "Dentatorubropallidoluysial atrophy", "DRPLA", "Naito-Koyanagi disease", "Friedreich ataxia", "FRDA", "Ataxia with vitamin E deficiency", "AVED", "Early-onset ataxia with ocular motor ataxia and hypoalbuminemia", "EOAH"
 59 trials 
 15 / 32 / 14 / 4 
 78 drugs 
 [ 28 drugs
 44 genes 
 59 pathways 
(1) 25,447 patients
(2) 26,601 patients
Age class
 19 Lysosomal storage disease
"Lysosomal disease", "Gaucher disease", "Niemann-Pick disease", "Niemann-Pick type C", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux-Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I-cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha-Mannosidosis", "Alpha-Mannosidase Deficiency", "Beta-Mannosidosis", "Beta-Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Kanzaki disease", "Pompe disease", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage disease", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis"
 784 trials 
 555 / 331 / 272 / 125 
 673 drugs 
 [ 101 drugs
 68 genes 
 184 pathways 
(1) 911 patients
(2) 1,452 patients
Age class
Animal model
 20 Adrenoleukodystrophy
"Adrenomyeloneuropathy", "AMN"
 49 trials 
 44 / 30 / 26 / 7 
 86 drugs 
 [ 29 drugs
 18 genes 
 112 pathways 
(1) 193 patients
(2) 249 patients
Age class
 21 Mitochondrial disease
 23 trials 
 6 / 12 / 4 / 1 
 29 drugs 
 [ 28 drugs
 44 genes 
 65 pathways 
(1) 1,087 patients
(2) 1,491 patients
Age class
Biobank
Animal model
 22 Moyamoya disease
"Occlusive disease in circle of Willis"
 11 trials 
 1 / 1 / 1 / 2 
 18 drugs 
 [ 11 drugs
 28 genes 
 43 pathways 
(1) 15,177 patients
(2) 12,686 patients
Age class
Biobank
 23 Prion disease
"Creutzfeldt-Jakob disease", "CJD", "Gerstmann-Straussler-Scheinker syndrome", "Fatal familial insomnia", "Kuru disease"
 4 trials 
 0 / 1 / 0 / 0 
 5 drugs 
 [ 2 drugs
 (1) 584 patients
(2) 429 patients
Age class
 24 Subacute sclerosing panencephalitis
"SSPE"
   (1) About 100 patients
(2) 73 patients
Age class
Biobank
 25 Progressive multifocal leukoencephalopathy
"PML", "Leukoencephalopathy, progressive multifocal"
 23 trials 
 2 / 5 / 0 / 2 
 33 drugs 
 [ 20 drugs
 7 genes 
 36 pathways 
(1) Less than 100 patients (By the research group)
(2) 51 patients
Age class
 26 HTLV-1-associated myelopathy
"Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy"
 26 trials 
 8 / 13 / 10 / 0 
 46 drugs 
 [ 27 drugs
 37 genes 
 123 pathways 
(1) 3,000 patients (By the research group)
(2) 974 patients
Age class
Biobank
 27 Idiopathic basal ganglia calcification
"IBGC", "Fahr disease", "FIBGC", "Primary familial brain calcification", "PFBC"
   (1) 200 patients (By the research group)
(2) 94 patients
Age class
 28 Systemic amyloidosis
"AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "Familial amyloidosis", "Familial amyloid polyneuropathy", "Senile transthyretin amyloidosis", "Senile TTR amyloidosis"
 212 trials 
 102 / 97 / 78 / 16 
 234 drugs 
 [ 72 drugs
 54 genes 
 170 pathways 
(1) 1,802 patients
(2) 3,131 patients
Age class
 29 Ullrich disease
"Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy"
   (1) About 300 patients (By the research group)
(2) 19 patients
Age class
 30 Distal myopathy
"Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy"
 13 trials 
 1 / 5 / 10 / 0 
 16 drugs 
 [ 3 drugs
 1 gene 
 1 pathway 
(1) 400 patients (By the research group)
(2) 269 patients
Age class
Animal model
 31 Bethlem myopathy
"Beth Rem myopathy"
   (1) Less than 100 patients (By the research group)
(2) 14 patients
Age class
 32 Autophagic vacuolar myopathy
"Danon disease", "X-linked myopathy with excessive autophagy", "XMEA"
 1 trial 
 1 / 0 / 0 / 0 
 1 drug 
 [ - ] 
 (1) Less than 100 patients (By the research group)
(2) 8 patients
Age class
 33 Schwartz-Jampel syndrome
"Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome"
   (1) Less than 100 patients (By the research group)
(2) 1 patient
Age class
 34 Neurofibromatosis
"NF1", "von Recklinghausen disease", "NF2"
 120 trials 
 47 / 79 / 9 / 8 
 182 drugs 
 [ 72 drugs
 84 genes 
 194 pathways 
(1) 3,588 patients
(2) 3,961 patients
Age class
Biobank
 35 Pemphigus
 87 trials 
 59 / 36 / 41 / 10 
 114 drugs 
 [ 37 drugs
 17 genes 
 158 pathways 
(1) About 6,000 patients
(2) 3,091 patients
Age class
Biobank
 36 Epidermolysis bullosa
"EBS", "JEB", "DDEB", "RDEB", "Kindler syndrome"
 147 trials 
 110 / 86 / 50 / 16 
 170 drugs 
 [ 40 drugs
 32 genes 
 113 pathways 
(1) 347 patients
(2) 302 patients
Age class
Biobank
 37 Generalised pustular psoriasis
"Pustular psoriasis", "Herpetic impetigo", "Generalization of acrodermatitis continua", "Generalization of dermatitis continua of the extremities"
 58 trials 
 41 / 24 / 32 / 11 
 50 drugs 
 [ 18 drugs
 17 genes 
 96 pathways 
(1) 2,072 patients
(2) 1,910 patients
Age class
 38 Stevens-Johnson syndrome
"SJS", "Mucocutaneous ocular syndrome"
 11 trials 
 10 / 7 / 3 / 2 
 19 drugs 
 [ 8 drugs
 14 genes 
 98 pathways 
(1) About 1,500 patients
(2) 160 patients
Age class
 39 Toxic epidermal necrolysis
"Toxic epidermal necrosis", "TEN"
 11 trials 
 4 / 6 / 2 / 1 
 18 drugs 
 [ 8 drugs
 11 genes 
 101 pathways 
(1) About 200 patients
(2) 51 patients
Age class
 40 Takayasu arteritis
"Aortitis syndrome", "Pulseless disease"
 22 trials 
 1 / 4 / 6 / 2 
 46 drugs 
 [ 20 drugs
 22 genes 
 111 pathways 
(1) About 7,000 patients
(2) 4,463 patients
Age class
Biobank
 41 Giant cell arteritis
"Temporal arteritis"
 108 trials 
 94 / 42 / 64 / 21 
 111 drugs 
 [ 32 drugs
 33 genes 
 121 pathways 
(1) About 700 patients (By the research group)
(2) 1,269 patients
Age class
 42 Polyarteritis nodosa
"PAN"
 14 trials 
 0 / 5 / 6 / 2 
 27 drugs 
 [ 16 drugs
 26 genes 
 102 pathways 
(1) [Disease ID 42-43 total] 9,610 patients
(2) 2,273 patients
Age class
 43 Microscopic polyangiitis
"MPA"
 85 trials 
 76 / 39 / 42 / 24 
 80 drugs 
 [ 19 drugs
 13 genes 
 85 pathways 
(1) [Disease ID 42-43 total] 9,610 patients
(2) 9,486 patients
Age class
 44 Wegener granulomatosis
"Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis"
 84 trials 
 86 / 35 / 48 / 25 
 88 drugs 
 [ 22 drugs
 13 genes 
 37 pathways 
(1) 1,942 patients
(2) 2,879 patients
Age class
 45 Eosinophilic granulomatosis with Polyangiitis
"EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "Churg-Strauss syndrome"
 27 trials 
 8 / 7 / 12 / 5 
 41 drugs 
 [ 18 drugs
 18 genes 
 98 pathways 
(1) About 1,800 patients (By the research group)
(2) 4,207 patients
Age class
 46 Malignant rheumatoid arthritis
"Rheumatoid arthritis", "Rheumatoid arthritis with vasculitis"
 4,183 trials 
 1485 / 924 / 1128 / 635 
 2,538 drugs 
 [ 401 drugs
 183 genes 
 219 pathways 
(1) 6,255 patients
(2) 5,246 patients
Age class
 47 Buerger disease
"Thromboangiitis obliterans"
 7 trials 
 0 / 3 / 0 / 0 
 9 drugs 
 [ 4 drugs
 4 genes 
 13 pathways 
(1) 7,109 patients
(2) 2,259 patients
Age class
Biobank
 48 Primary antiphospholipid syndrome
"Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS"
 3 trials 
 0 / 0 / 1 / 0 
 4 drugs 
 [ 3 drugs
 (1) About 10,000 patients (By the research group)
(2) 636 patients
Age class
 49 Systemic lupus erythematosus
"SLE"
 827 trials 
 503 / 335 / 223 / 123 
 638 drugs 
 [ 168 drugs
 108 genes 
 191 pathways 
(1) 60,122 patients
(2) 61,835 patients
Age class
Animal model
 50 Dermatomyositis
"Polymyositis"
 157 trials 
 85 / 65 / 48 / 21 
 207 drugs 
 [ 76 drugs
 47 genes 
 142 pathways 
(1) About 19,500 patients
(2) 23,168 patients
Age class
Biobank
 51 Scleroderma
"Systemic sclerosis", "SSc", "dcSSc", "lcSSc"
 466 trials 
 296 / 217 / 142 / 68 
 536 drugs 
 [ 142 drugs
 110 genes 
 210 pathways 
(1) About 20,000 patients estimated though the latest number of patients unknown
(2) 26,728 patients
Age class
Biobank
 52 Mixed connective tissue disease
 4 trials 
 0 / 1 / 1 / 0 
 6 drugs 
 [ 3 drugs
 1 gene 
 1 pathway 
(1) 11,005 patients
(2) 9,835 patients
Age class
 53 Sjogren syndrome
"Sjögren syndrome"
 234 trials 
 103 / 141 / 35 / 31 
 270 drugs 
 [ 85 drugs
 49 genes 
 174 pathways 
(1) About 66,300 patients (By the research group)
(2) 16,022 patients
Age class
Biobank
 54 Adult still disease
"Adult-onset Stills disease"
 2 trials 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 1 gene 
 12 pathways 
(1) About 4,800 patients (By the research group)
(2) 3,446 patients
Age class
 55 Relapsing polychondritis
 7 trials 
 1 / 3 / 0 / 0 
 10 drugs 
 [ 9 drugs
 12 genes 
 98 pathways 
(1) About 500 patients (By the research group)
(2) 748 patients
Age class
 56 Behcet disease
"Behçet disease"
 68 trials 
 10 / 20 / 18 / 5 
 87 drugs 
 [ 31 drugs
 36 genes 
 113 pathways 
(1) 20,035 patients
(2) 14,736 patients
Age class
 57 Idiopathic dilated cardiomyopathy
 12 trials 
 3 / 6 / 1 / 3 
 25 drugs 
 [ 12 drugs
 9 genes 
 33 pathways 
(1) 27,968 patients
(2) 19,423 patients
Age class
Biobank
Animal model
 58 Hypertrophic cardiomyopathy
 92 trials 
 35 / 42 / 31 / 14 
 126 drugs 
 [ 35 drugs
 40 genes 
 141 pathways 
(1) 4,667 patients
(2) 4,205 patients
Age class
Biobank
 59 Restricted cardiomyopathy
"Restrictive cardiomyopathy", "Constrictive cardiomyopathy"
   (1) 50 patients
(2) 59 patients
Age class
 60 Aplastic anemia
 218 trials 
 62 / 136 / 27 / 16 
 362 drugs 
 [ 81 drugs
 39 genes 
 155 pathways 
(1) 10,287 patients
(2) 7,953 patients
Age class
 61 Autoimmune hemolytic anemia
"AIHA", "WAIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "MAIHA", "Evans syndrome"
 90 trials 
 31 / 42 / 43 / 6 
 72 drugs 
 [ 23 drugs
 19 genes 
 147 pathways 
(1) About 2,600 patients
(2) 1,013 patients
Age class
 62 Paroxysmal nocturnal hemoglobinuria
"PNH"
 202 trials 
 154 / 85 / 117 / 33 
 120 drugs 
 [ 25 drugs
 15 genes 
 90 pathways 
(1) About 400 patients
(2) 844 patients
Age class
 63 Idiopathic thrombocytopenic purpura
"Primary immune thrombocytopenia"
 311 trials 
 164 / 70 / 130 / 54 
 185 drugs 
 [ 39 drugs
 43 genes 
 132 pathways 
(1) 24,956 patients
(2) 16,532 patients
Age class
 64 Thrombotic thrombocytopenic purpura
"TTP", "Upshaw-Schulman syndrome", "USS"
 74 trials 
 29 / 26 / 39 / 7 
 76 drugs 
 [ 19 drugs
 15 genes 
 57 pathways 
(1) Estimated occurrence: About 500 patients per year
(2) 281 patients
Age class
Animal model
 65 Primary immunodeficiency
"X-SCID", "Reticular dysgenesis", "Adenosine deaminase deficiency", "Omenn syndrome", "Purine nucleoside phosphorylase deficiency", "CD8 deficiency", "ZAP-70 deficiency", "MHC class I deficiency", "MHC class II deficiency", "Combined immunodeficiency", "Wiskott-Aldrich syndrome", "Telangiectasia ataxia", "Nijmegen breakage syndrome", "Bloom syndrome", "Immunodeficiency, centromere region instability, facial anomalies syndrome", "ICF syndrome", "PMS2 deficiency", "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome", "RIDDLE syndrome", "Schimke syndrome", "Netherton syndrome", "Thymic hypoplasia", "DiGeorge syndrome", "22q11.2 deletion syndrome", "Hyper-IgE syndrome", "Hepatic venoocclusive immunodeficiency", "Immunodeficiency with central hepatic vein atresia", "Dyskeratosis congenita", "X-linked agammaglobulinaemia", "Common variable immunodeficiency", "Hyper-IgM syndrome", "Isolated IgG subclass deficiency", "Selective IgA deficiency", "Specific antibody production deficiency", "Infant transient hypogammaglobulinemia", "Chédiak-Higashi syndrome", "Chediak-Higashi syndrome", "X-linked lymphoproliferative syndrome", "SAP deficiency", "SH2D1A/SLAM-associated protein deficiency", "XIAP deficiency", "X-linked inhibitor of apoptosis deficiency", "Autoimmune lymphoproliferative syndrome", "ALPS", "Familial hemophagocytic syndrome", "Perforin deficiency", "Munc13-4 deficiency", "Syntaxin 11 deficiency", "Munc18-2 deficiency", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "APECED", "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome", "IPEX syndrome", "CD25 deficiency", "ITCH deficiency", "Primary phagocytic dysfunction", "Severe congenital neutropenia", "Cyclic neutropenia", "Hermanskyi-Pudlak syndrome type 2", "Hermanskyi-Pudlak syndrome 2", "Griscelli syndrome type 2", "Griscelli syndrome 2", "p14 deficiency", "Warts, hypogammaglobulinemia, infections, myelokathexis syndrome", "WHIM syndrome", "Glycogen storage disease type Ib", "Leukocyte adhesion deficiency", "Shwachman-Diamond syndrome", "Chronic granulomatous disease", "Myeloperoxidase deficiency", "Mendelian susceptibility to mycobacterial disease", "MSMD", "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "Interleukin-1 receptor-associated kinase-4 deficiency", "IRAK4 deficiency", "IMyD88 deficiency", "Chronic mucocutaneous candidiasis", "Epidermodysplasia verruciformis", "Herpes simplex encephalitis", "Caspase recruitment domain family member 9 deficiency", "CARD9 deficiency", "Trypanosomiasis", "Congenital complement deficiency", "C1q deficiency", "CC1r deficiency", "CC1s deficiency", "CC2 deficiency", "CC3 deficiency", "CC4 deficiency", "CC5 deficiency", "CC6 deficiency", "CC7 deficiency", "CC8 deficiency", "CC9 deficiency", "Factor D deficiency", "Properdin deficiency", "Factor I deficiency", "Factor H deficiency", "MASP1 deficiency", "3MC syndrome", "Mannose-binding protein-associated serine protease 2 deficiency", "MASP2 deficiency", "FCN3", "Hereditary angioedema type 1", "Hereditary angioedema type I", "C1 inhibitor deficiency type 1", "C1 inhibitor deficiency type I", "Hereditary angioedema type 2", "Hereditary angioedema type II", "C1 inhibitor deficiency type 2", "C1 inhibitor deficiency type II", "Hereditary angioedema type 3", "Hereditary angioedema type III", "C1 inhibitor deficiency type 3", "C1 inhibitor deficiency type III"
 413 trials 
 209 / 170 / 134 / 54 
 581 drugs 
 [ 97 drugs
 68 genes 
 202 pathways 
(1) 1,383 patients
(2) 1,790 patients
Age class
Animal model
 66 IgA nephropathy
"IgA nephritis", "Berger disease", "IgA-IgG nephropathy"
 199 trials 
 49 / 60 / 68 / 34 
 214 drugs 
 [ 57 drugs
 32 genes 
 128 pathways 
(1) About 33,000 patients (By the research group)
(2) 10,074 patients
Age class
Biobank
Animal model
 67 Polycystic kidney disease
"PKD", "PCKD", "Polycystic kidney", "ADPKD", "ARPKD"
 186 trials 
 113 / 73 / 86 / 30 
 196 drugs 
 [ 47 drugs
 35 genes 
 146 pathways 
(1) About 31,000 patients (By the research group)
(2) 10,484 patients
Age class
Animal model
 68 Ossification of the ligamentum flavum
"Ossification of ligamentum flavum", "OLF"
 2 trials 
 0 / 0 / 0 / 0 
 4 drugs 
 [ 4 drugs
 1 gene 
 3 pathways 
(1) 2,360 patients
(2) 5,523 patients
Age class
 69 Ossification of posterior longitudinal ligament
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 (1) 33,346 patients
(2) 31,812 patients
Age class
 70 Spinal stenosis
"Extensive spinal canal stenosis"
 91 trials 
 12 / 13 / 8 / 25 
 195 drugs 
 [ 54 drugs
 60 genes 
 85 pathways 
(1) 5,944 patients
(2) 5,125 patients
Age class
 71 Idiopathic osteonecrosis of the femoral head
"Idiopathic femoral head necrosis"
 3 trials 
 0 / 1 / 0 / 0 
 5 drugs 
 [ 4 drugs
 4 genes 
 10 pathways 
(1) 15,388 patients
(2) 17,619 patients
Age class
 72 Pituitary ADH secretion disorder
"Inappropriate antidiuretic hormone secretion", "Syndrome of inappropriate secretion of antidiuretic hormone", "Inappropriate ADH syndrome", "Syndrome of inappropriate ADH", "Central diabetes insipidus", "Syndrome of inappropriate secretion of ADH", "SIADH"
 36 trials 
 2 / 5 / 12 / 1 
 22 drugs 
 [ 5 drugs
 2 genes 
 4 pathways 
(1) [Disease ID 72-78 total] 17,069 patients
(2) 3,294 patients
Age class
 73 TSH-secreting pituitary adenoma
"Pituitary TSH secretion hyperthyroidism"
 1 trial 
 0 / 0 / 1 / 0 
 3 drugs 
 [ 2 drugs
 (1) [Disease ID 72-78 total] 17,069 patients
(2) 145 patients
Age class
 74 Prolactin secreting pituitary adenoma
"Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma"
 18 trials 
 3 / 6 / 1 / 1 
 33 drugs 
 [ 10 drugs
 16 genes 
 63 pathways 
(1) [Disease ID 72-78 total] 17,069 patients
(2) 1,997 patients
Age class
 75 Cushing disease
"Cushing"
 191 trials 
 165 / 81 / 84 / 47 
 172 drugs 
 [ 48 drugs
 61 genes 
 121 pathways 
(1) [Disease ID 72-78 total] 17,069 patients
(2) 828 patients
Age class
 76 Pituitary gonadotropin secretion hyperthyroidism
"Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma"
 25 trials 
 0 / 0 / 8 / 8 
 41 drugs 
 [ 11 drugs
 3 genes 
 10 pathways 
(1) [Disease ID 72-78 total] 17,069 patients
(2) 38 patients
Age class
 77 Growth hormone secreting pituitary adenoma
"Pituitary growth hormone secretion hyperthyroidism"
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 2 genes 
 19 pathways 
(1) [Disease ID 72-78 total] 17,069 patients
(2) 4,303 patients
Age class
 78 Hypopituitarism
"Anterior pituitary hypothyroidism", "Syndrome of abnormal secretion of gonadotropin", "Hyposecretion of gonadotropins", "Adrenocorticotropic hormone deficiency", "ACTH deficiency", "Thyroid-stimulating hormone deficiency", "TSH deficiency", "Growth hormone deficiency", "GH deficiency", "GHD", "CGHD", "AGHD", "Prolactin deficiency", "PRL deficiency"
 462 trials 
 179 / 102 / 139 / 68 
 346 drugs 
 [ 45 drugs
 41 genes 
 80 pathways 
(1) [Disease ID 72-78 total] 17,069 patients
(2) 17,495 patients
Age class
 79 Homozygous familial hypercholesterolemia
 128 trials 
 74 / 43 / 81 / 15 
 105 drugs 
 [ 29 drugs
 8 genes 
 15 pathways 
(1) 140 patients
(2) 320 patients
Age class
 80 Resistance to thyroid hormone
"Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome"
   (1) About 3,000 patients (By the research group)
(2) 36 patients
Age class
 81 Congenital adrenal hyperplasia
"Congenital adrenal enzyme deficiency", "Congenial adrenal cortex enzyme deficiency", "Congenital Lipoid Adrenal Hyperplasia", "3β-Hydroxysteroid Dehydrogenase Deficiency", "21-Hydroxylase deficiency", "11β-Hydroxylase deficiency", "17α-Hydroxylase deficiency", "P450 oxidoreductase deficiency", "Aldosterone synthase deficiency"
 65 trials 
 34 / 35 / 22 / 7 
 77 drugs 
 [ 20 drugs
 11 genes 
 65 pathways 
(1) About 1,800 patients
(2) 804 patients
Age class
 82 Congenital adrenal hypoplasia
"DAX-1 deficiency", "Steroidogenic factor-1 deficiency", "SF-1 deficiency", "SF-1/Ad4BP deficiency", "IMAGe syndrome"
   (1) About 1,000 patients
(2) 45 patients
Age class
 83 Addison disease
"Primary chronic adrenocortical insufficiency", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", "Schmidt syndrome"
 20 trials 
 6 / 4 / 3 / 5 
 42 drugs 
 [ 13 drugs
 6 genes 
 17 pathways 
(1) About 1,000 patients (By the research group)
(2) 298 patients
Age class
 84 Sarcoidosis
 143 trials 
 56 / 60 / 28 / 28 
 221 drugs 
 [ 79 drugs
 82 genes 
 165 pathways 
(1) 26,763 patients
(2) 14,950 patients
Age class
 85 Idiopathic interstitial pneumonia
"IIPs", "Idiopathic pulmonary fibrosis", "IPF", "Usual interstitial pneumonia", "UIP", "Non-specific interstitial pneumonia", "NSIP", "Acute interstitial pneumonia", "AIP", "Diffuse alveolar damage", "DAD", "COP", "Organizing pneumonia", "OP", "Desquamative interstitial pneumonia", "DIP", "Respiratory bronchiolitis - associated interstitial lung disease", "RB-ILD", "Lymphocytic interstitial pneumonia", "LIP"
 514 trials 
 228 / 208 / 116 / 64 
 377 drugs 
 [ 108 drugs
 97 genes 
 204 pathways 
(1) More than about 15,000 patients (Medical care eligibility certificate holders in fiscal year 2,014: 8,846 patients)
(2) 15,301 patients
Age class
Biobank
 86 Pulmonary arterial hypertension
"PAH", "IPAH", "HPAH", "Eisenmenger syndrome"
 1,083 trials 
 514 / 272 / 389 / 187 
 667 drugs 
 [ 122 drugs
 98 genes 
 185 pathways 
(1) 2,299 patients
(2) 3,934 patients
Age class
 87 Pulmonary veno-occlusive disease
"Pulmonary capillary hemangiomatosis", "PVOD", "PCH"
 3 trials 
 1 / 1 / 0 / 0 
 4 drugs 
 [ 3 drugs
 4 genes 
 43 pathways 
(1) About 100 patients
(2) 23 patients
Age class
 88 Chronic thromboembolic pulmonary hypertension
"CTEPH", "Idiopathic chronic pulmonary thromboembolism"
 145 trials 
 102 / 53 / 63 / 21 
 112 drugs 
 [ 22 drugs
 13 genes 
 52 pathways 
(1) 1,810 patients
(2) 4,160 patients
Age class
Biobank
Animal model
 89 Lymphangioleiomyomatosis
"LAM"
 38 trials 
 14 / 17 / 8 / 2 
 42 drugs 
 [ 19 drugs
 26 genes 
 134 pathways 
(1) 689 patients
(2) 823 patients
Age class
 90 Retinitis pigmentosa
"Rod dystrophy", "Rod-Cone Dystrophy"
 103 trials 
 91 / 56 / 22 / 10 
 158 drugs 
 [ 42 drugs
 52 genes 
 107 pathways 
(1) 27,158 patients
(2) 23,263 patients
Age class
Biobank
 91 Budd-Chiari syndrome
 3 trials 
 0 / 0 / 0 / 1 
 4 drugs 
 [ 3 drugs
 2 genes 
 8 pathways 
(1) 293 patients
(2) 208 patients
Age class
 92 Idiopathic portal hypertension
"Banti syndrome"
   (1) About 1,000 patients
(2) 288 patients
Age class
 93 Primary biliary cholangitis
"Primary biliary cirrhosis", "PBC"
 230 trials 
 190 / 110 / 75 / 60 
 215 drugs 
 [ 51 drugs
 34 genes 
 107 pathways 
(1) 19,701 patients
(2) 17,390 patients
Age class
 94 Primary sclerosing cholangitis
"PSC"
 134 trials 
 68 / 57 / 46 / 10 
 105 drugs 
 [ 37 drugs
 18 genes 
 131 pathways 
(1) About 400 patients
(2) 892 patients
Age class
 95 Autoimmune hepatitis
 44 trials 
 11 / 19 / 11 / 8 
 57 drugs 
 [ 26 drugs
 18 genes 
 108 pathways 
(1) About 10,000 patients
(2) 5,880 patients
Age class
 96 Crohn disease
"Terminal ileitis"
 2,209 trials 
 1302 / 711 / 873 / 391 
 1,276 drugs 
 [ 240 drugs
 166 genes 
 210 pathways 
(1) 36,418 patients
(2) 44,245 patients
Age class
 97 Ulcerative colitis
 2,269 trials 
 1401 / 847 / 954 / 366 
 1,331 drugs 
 [ 241 drugs
 114 genes 
 181 pathways 
(1) 143,733 patients
(2) 126,603 patients
Age class
 98 Eosinophilic gastrointestinal disease
"Eosinophilic gastroenteritis", "Eosinophilic esophagitis", "Eosinophilic colitis", "Eosinophilic gastro-intestinal disorder", "EGID", "Neonatal food-protein induced enterocolitis", "N-FPIES"
 128 trials 
 60 / 56 / 56 / 16 
 147 drugs 
 [ 40 drugs
 34 genes 
 132 pathways 
(1) About 5,000 patients (By the research group)
(2) 830 patients
Age class
 99 Chronic intestinal pseudo-obstruction
"Chronic idiopathic pseudo-bowel obstruction", "Chronic Idiopathic Intestinal Pseudo-Obstruction", "CIIP"
 3 trials 
 0 / 3 / 0 / 0 
 6 drugs 
 [ 1 drug
 (1) Child case: 100 patients, Adult case: 1,300 patients
(2) 144 patients
Age class
 100 Megacystis microcolon intestinal hypoperistalsis syndrome
"MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency"
   (1) Less than 100 patients (By the research group)
(2) 1 patient
Age class
 101 Congenital isolated hypoganglionosis
"Intestinal ganglion cells insignificant disease"
   (1) About 100 patients (By the research group)
(2) 11 patients
Age class
 102 Rubinstein-Taybi syndrome
"RSTS"
 3 trials 
 0 / 2 / 0 / 0 
 8 drugs 
 [ 1 drug
 7 genes 
 17 pathways 
(1) About 200 patients (By the research group)
(2) 9 patients
Age class
Biobank
 103 Cardio-facio-cutaneous syndrome
"CFC syndrome"
   (1) About 200 patients (By the research group)
(2) 5 patients
Age class
 104 Costello syndrome
   (1) About 100 patients (By the research group)
(2) 6 patients
Age class
 105 CHARGE syndrome
   (1) About 5,000 patients (By the research group)
(2) 15 patients
Age class
 106 Cryopyrin-associated periodic syndrome
"Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Mucke-Wells syndrome", "MWS", "Chronic infantile neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID"
 39 trials 
 28 / 11 / 13 / 5 
 23 drugs 
 [ 4 drugs
 4 genes 
 46 pathways 
(1) About 100 patients (By the research group)
(2) 66 patients
Age class
 107 Systemic juvenile idiopathic arthritis
"Systemic-onset juvenile idiopathic arthritis"
 151 trials 
 80 / 34 / 50 / 28 
 75 drugs 
 [ 13 drugs
 16 genes 
 90 pathways 
(1) About 8,000 patients
(2) 617 patients
Age class
 108 TNF receptor-associated periodic syndrome
 4 trials 
 5 / 1 / 2 / 1 
 7 drugs 
 [ 1 drug
 1 gene 
 42 pathways 
(1) Less than 100 patients (By the research group)
(2) 29 patients
Age class
 109 Atypical hemolytic uremic syndrome
"aHUS"
 95 trials 
 85 / 36 / 36 / 20 
 27 drugs 
 [ 5 drugs
 2 genes 
 9 pathways 
(1) Less than 200 patients (By the research group)
(2) 80 patients
Age class
 110 Blau syndrome
"Early-onset sarcoidosis", "Systemic granulomatous diseases"
   (1) Less than 100 patients (By the research group)
(2) 18 patients
Age class
 111 Congenital myopathy
"Nemaline myopathy", "Central core disease", "Minicore myopathy", "Myotubular myopathy", "Centronuclear myopathy", "Congenital fiber-type disproportion myopathy"
 7 trials 
 9 / 6 / 1 / 2 
 13 drugs 
 [ 4 drugs
 1 gene 
 8 pathways 
(1) About 1,000 patients
(2) 275 patients
Age class
Biobank
 112 Marinesco-Sjogren syndrome
"Hereditary cerebellar ataxia-childhood cataracts"
   (1) Less than 100 patients
(2) 5 patients
Age class
Biobank
 113 Muscular dystrophy
"Dystrophinopathies", "Myotilinopathy", "Laminopathy", "Caveolinopathy", "LGMD1C", "Desminopathy", "Sarcoglycanopathy", "α-dystroglycanopathy", "FCMD", "Walker-Warburg syndrome", "Muscle-eye-brain disease", "Myotonic dystrophy", "Integrin α7 deficient CMD", "Rigid spine syndrome"
 567 trials 
 431 / 251 / 233 / 72 
 442 drugs 
 [ 93 drugs
 55 genes 
 151 pathways 
(1) About 25,400 patients
(2) 4,510 patients
Age class
Biobank
Animal model
 114 Non-dystrophic myotonia syndrome
"Non-dystrophic Myotonia", "Myotonia congenita", "Thomsen disease", "Becker disease", "Paramyotonia congenita", "Sodium channel myotonia"
 10 trials 
 1 / 3 / 3 / 0 
 14 drugs 
 [ 5 drugs
 18 genes 
 10 pathways 
(1) About 1,000 patients
(2) 17 patients
Age class
 115 Hereditary periodic paralysis
"Hereditary Hypokalemic Periodic Paralysis", "Andersen-Tawil syndrome", "Hereditary Hyperkalemic Periodic Paralysis"
 1 trial 
 1 / 0 / 0 / 0 
 2 drugs 
 [ 2 drugs
 13 genes 
 7 pathways 
(1) About 1,000 patients
(2) 53 patients
Age class
 116 Atopic myelitis
"Idiopathic eosinophilic myelitis"
   (1) About 1,000 patients
(2) 35 patients
Age class
 117 Syringomyelia
 2 trials 
 0 / 2 / 0 / 0 
 4 drugs 
 [ - ] 
 (1) About 3,000 patients
(2) 509 patients
Age class
 118 Myelomeningocele
"Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele"
 9 trials 
 1 / 1 / 0 / 1 
 15 drugs 
 [ 7 drugs
 8 genes 
 11 pathways 
(1) 5.0~6.0 cases occur per 10,000 born (500~600 child patients are born per year)
(2) 75 patients
Age class
 119 Isaacs syndrome
"Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis"
   (1) About 100 patients
(2) 92 patients
Age class
 120 Hereditary dystonia
"DYT1 dystonia", "DYT2 dystonia", "DYT3 dystonia", "X-linked dystonia-parkinsonism", "Lubag", "DYT4 dystonia", "DYT5 dystonia", "DYT5a dystonia", "DYT5b dystonia", "Segawa syndrome", "Dopa-responsive dystonia", "DYT6 dystonia", "DYT7 dystonia", "DYT8 dystonia", "Paroxysmal nonkinesigenic dyskinesia 1", "PNKD1", "DYT9 dystonia", "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity", "Paroxysmal choreoathetosis and episodic ataxia and spasticity", "DYT10 dystonia", "Episodic kinesigenic dyskinesia 1", "EKD1", "DYT11 dystonia", "Myoclonus-dystonia syndrome", "DYT12 dystonia", "Rapid-onset dystonia-parkinsonism", "Alternating hemiplegia of childhood", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "DYT13 dystonia", "DYT14 dystonia", "SS", "DRD", "DYT15 dystonia", "DYT16 dystonia", "DYT17 dystonia", "DYT18 dystonia", "Paroxysmal execise-induced dyskinesia", "DYT19 dystonia", "Episodic kinesigenic dyskinesia 2", "DYT20 dystonia", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "Neurodegeneration with Brain Iron Accumulation 1", "Pantothenate kinase-associated neurodegeneration", "PKAN", "NBIA1", "Hallervorden-Spatz syndrome", "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration", "Neurodegeneration with Brain Iron Accumulation 2", "Infantile neuroaxonal dystrophy", "INAD", "NBIA2", "Karak syndrome", "Neurodegeneration with Brain Iron Accumulation 3", "Neuroferritinopathy", "NBIA3", "Neurodegeneration with Brain Iron Accumulation 4", "Aceruloplasminemia", "Hereditary ceruloplasmin deficiency", "NBIA4", "Neurodegeneration with Brain Iron Accumulation 5", "NBIA5", "Beta-propeller protein-associated neurodegeneration", "BPAN", "Fatty Acid Hydroxylase-associated neurodegeneration", "Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35"
 25 trials 
 11 / 3 / 17 / 3 
 22 drugs 
 [ 4 drugs
 2 genes 
 2 pathways 
(1) About 500 patients
(2) 85 patients
Age class
 121 Neuroferritinopathy
   (1) Less than 100 patients
(2) 2 patients
Age class
 122 Superficial siderosis
"Brain table hemosiderosis"
 3 trials 
 0 / 0 / 0 / 0 
 7 drugs 
 [ 2 drugs
 (1) Less than 100 patients
(2) 162 patients
Age class
 123 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
"CARASIL", "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis", "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis", "Cerebral autosomal recessive arteriopathy", "Autosomal recessive leukoencephalopathy"
   (1) Less than 100 patients
(2) 5 patients
Age class
 124 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
"CADASIL", "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease"
 11 trials 
 10 / 7 / 2 / 2 
 13 drugs 
 [ 4 drugs
 3 genes 
 11 pathways 
(1) About 200 patients
(2) 119 patients
Age class
 125 Hereditary diffuse leukoencephalopathy with spheroid
"HDLS", "Hereditary diffuse leukoencephalopathy"
 1 trial 
 0 / 1 / 0 / 0 
 9 drugs 
 [ 1 drug
 (1) Less than 100 patients
(2) 54 patients
Age class
 126 Perry syndrome
   (1) Less than 100 patients
(2) 4 patients
Age class
 127 Frontotemporal lobar degeneration
"Frontotemporal dementia", "Semantic dementia"
 74 trials 
 24 / 26 / 27 / 8 
 83 drugs 
 [ 28 drugs
 29 genes 
 99 pathways 
(1) About 12,000 patients
(2) 1,071 patients
Age class
 128 Bickerstaff brainstem encephalitis
   (1) Occurrence: About 100 patients per year
(2) 86 patients
Age class
 129 Acute encephalopathy with biphasic seizures and late reduced diffusion
"Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy"
 1 trial 
 0 / 1 / 0 / 0 
 1 drug 
 [ 1 drug
 (1) About 2,000~7,800 patients (Morbidity rate: 100~200 patients per year)
(2) 46 patients
Age class
 130 Congenital insensitivity to pain with anhydrosis
"CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5"
   (1) About 200~300 patients
(2) 31 patients
Age class
 131 Alexander disease
 1 trial 
 1 / 1 / 1 / 0 
 3 drugs 
 [ 1 drug
 (1) Less than 100 patients
(2) 35 patients
Age class
 132 Congenital supranuclear bulbar palsy
"Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome"
   (1) About 100 patients
(2) 6 patients
Age class
 133 Moebius syndrome
"Mobius syndrome", "Möbius syndrome"
   (1) About 1,000 patients
(2) 11 patients
Age class
 134 Septo-optic dysplasia
"De Morsier syndrome"
 1 trial 
 0 / 0 / 0 / 1 
 1 drug 
 [ - ] 
 (1) About 500 patients
(2) 8 patients
Age class
 135 Aicardi syndrome
 1 trial 
 0 / 1 / 0 / 0 
 9 drugs 
 [ 3 drugs
 (1) Less than 100 patients
(2) 10 patients
Age class
 136 Hemimegalencephaly
"Unilateral megalencephaly"
   (1) Less than 100 patients
(2) 21 patients
Age class
 137 Focal cortical dysplasia
"FCD"
 8 trials 
 0 / 6 / 0 / 0 
 4 drugs 
 [ 2 drugs
 1 gene 
 50 pathways 
(1) A few thousand patients
(2) 58 patients
Age class
 138 Nerve cell migration disorder
"Lissencephaly", "Neuronal migration defect", "Ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "Porencephaly", "Miller-Dieker syndrome"
   (1) About 1,000 patients
(2) 42 patients
Age class
 139 Congenital cerebral hypomyelination
"Congenital cerebral white matter aplasia", "Pelizaeus-Merzbacher disease", "Pelizaeus-Merzbacher-like disease 1", "Pelizaeus-Merzbacher-like disease type 1", "Hypomyelination with atrophy of the basal ganglia and cerebellum", "18q-syndrome", "Chromosome 18q deletion syndrome", "Allan-Herndon-Dudley syndrome", "Mitochondrial Hsp60 chaperonopathy", "Salla disease", "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "Hypomyelination and congenital cataract", "Ataxia, delayed dentition, and hypomyelination", "Peripheral demyelinating neuropathy", "Central dysmyelinating leukodystrophy", "Waardenburg syndrome", "Hirschsprung disease"
 10 trials 
 1 / 7 / 0 / 0 
 7 drugs 
 [ 2 drugs
 2 genes 
 2 pathways 
(1) About 200 patients
(2) 32 patients
Age class
 140 Dorabe syndrome
"Dravet syndrome"
 83 trials 
 59 / 21 / 57 / 13 
 54 drugs 
 [ 13 drugs
 48 genes 
 62 pathways 
(1) About 3,000 patients
(2) 49 patients
Age class
 141 Mesial temporal lobe epilepsy with hippocampal sclerosis
"Medial temporal lobe epilepsy with hippocampal sclerosis", "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis", "Medial temporal lobe epilepsy"
   (1) About 5,000 patients
(2) 54 patients
Age class
 142 Myoclonic absence epilepsy
   (1) Less than 100 patients
(2) 2 patients
Age class
 143 Epilepsy with myoclonic-atonic seizure
"Epilepsy with myoclonic cataplexy"
   (1) Less than 100 patients
(2) 18 patients
Age class
 144 Lennox-Gastaut syndrome
 80 trials 
 54 / 17 / 54 / 12 
 63 drugs 
 [ 11 drugs
 49 genes 
 59 pathways 
(1) [Disease ID 144-148 total] About 4,300 patients
(2) 218 patients
Age class
 145 West syndrome
"Infantile spasm"
 39 trials 
 15 / 15 / 15 / 9 
 50 drugs 
 [ 13 drugs
 27 genes 
 24 pathways 
(1) [Disease ID 144-148 total] About 4,300 patients
(2) 141 patients
Age class
 146 Ohtahara syndrome
"Early infantile epileptic encephalopathy with suppression burst"
   (1) [Disease ID 144-148 total] About 4,300 patients
(2) 17 patients
Age class
 147 Early myoclonic encephalopathy
   (1) [Disease ID 144-148 total] About 4,300 patients
(2) 9 patients
Age class
 148 Epilepsy of infancy with migrating focal seizure
"Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy"
   (1) [Disease ID 144-148 total] About 4,300 patients
(2) 19 patients
Age class
 149 Hemiconvulsion hemiplegia epilepsy syndrome
"One side convulsions", "Hemiplegia", "Epilepsy syndrome"
 22 trials 
 3 / 4 / 7 / 1 
 33 drugs 
 [ 12 drugs
 13 genes 
 17 pathways 
(1) Less than 100 patients
(2) 18 patients
Age class
 150 Ring chromosome 20 epilepsy syndrome
"Ring chromosome 20 syndrome"
   (1) Less than 100 patients
(2) 13 patients
Age class
 151 Rasmussen encephalitis
 2 trials 
 0 / 1 / 1 / 0 
 4 drugs 
 [ 2 drugs
 6 genes 
 84 pathways 
(1) Less than 100 patients
(2) 30 patients
Age class
 152 PCDH19 related syndrome
"PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19-related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy"
 9 trials 
 5 / 5 / 4 / 1 
 7 drugs 
 [ 1 drug
 16 genes 
 7 pathways 
(1) Less than 100 patients
(2) 10 patients
Age class
 153 Acute encephalitis with refractory, repetitive partial seizure
repetitive partial seizure", "AERRPS", "Refractory frequent partial seizures intussusception acute encephalitis", "Febrile infection related epilepsy syndrome", "FIRES", "New onset refractory status epilepsy syndrome", "NORSE syndrome"
   (1) About 100 patients
(2) 37 patients
Age class
 154 Epilepsy with continuous spikes and waves during slow sleep
"Epileptic encephalopathy with continuous spike-and-wave during sleep"
 1 trial 
 0 / 1 / 0 / 0 
 1 drug 
 [ - ] 
 (1) [Disease ID 154-155 total] About 400 patients
(2) 27 patients
Age class
 155 Acquired aphasia with convulsive disorder
"Landau-Kleffner syndrome"
 1 trial 
 0 / 1 / 1 / 0 
 2 drugs 
 [ 2 drugs
 29 genes 
 14 pathways 
(1) [Disease ID 154-155 total] About 400 patients
(2) 5 patients
Age class
 156 Rett syndrome
 36 trials 
 8 / 23 / 11 / 1 
 49 drugs 
 [ 19 drugs
 77 genes 
 112 pathways 
(1) About 1,000 patients
(2) 76 patients
Age class
Animal model
 157 Sturge-Weber syndrome
"Síndrome de Sturge-Weber"
 8 trials 
 3 / 5 / 1 / 0 
 11 drugs 
 [ 4 drugs
 5 genes 
 62 pathways 
(1) About 1,000 patients
(2) 72 patients
Age class
 158 Tuberous sclerosis
"Tuberous sclerosis complex"
 100 trials 
 59 / 38 / 49 / 16 
 62 drugs 
 [ 16 drugs
 35 genes 
 115 pathways 
(1) About 4,000~12,000 patients
(2) 757 patients
Age class
Biobank
 159 Xeroderma pigmentosum
"XP"
 5 trials 
 1 / 1 / 1 / 0 
 13 drugs 
 [ 4 drugs
 4 genes 
 13 pathways 
(1) About 300~600 patients
(2) 79 patients
Age class
Biobank
 160 Congenital ichthyosis
"Keratinopathic ichthyosis", "Epidermolytic ichthyosis", "Harlequin ichthyosis", "Congenital Ichthyosiform Erythroderma", "Foliate ichthyosis", "Ichthyosis syndrome", "Netherton syndrome", "Sjogren-Larsson syndrome", "Sjögren-Larsson syndrome", "Keratitis-ichtyosis-deafness syndrome", "Dorfman-Chanarin syndrome", "Neutral lipid storage disease", "NLSD", "Multiple sulfatase deficiency", "Austin disease", "Recessive X-linked ichthyosis", "RXLI", "X-linked recessive ichthyosis", "Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature", "IBID", "Trichothiodystrophy", "Follicular ichthyosis", "Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome", "CHILD syndrome", "Conradi-Hunermann-Happle syndrome", "Conradi-Hünermann-Happle syndrome", "CHHS"
 32 trials 
 18 / 15 / 9 / 4 
 62 drugs 
 [ 18 drugs
 15 genes 
 107 pathways 
(1) About 200 patients
(2) 76 patients
Age class
Biobank
 161 Familial benign chronic pemphigus
"Benign familial pemphigus", "Hailey-Hailey disease"
 4 trials 
 2 / 2 / 0 / 0 
 8 drugs 
 [ 3 drugs
 1 gene 
 22 pathways 
(1) About 300 patients
(2) 45 patients
Age class
 162 Pemphigoid
"Epidermolysis bullosa acquisita"
 70 trials 
 24 / 33 / 14 / 7 
 117 drugs 
 [ 46 drugs
 30 genes 
 128 pathways 
(1) About 7,100 patients (Pemphigoid: About 6,850 patients、Epidermolysis bullosa acquisita: About 250 patients)
(2) 2,915 patients
Age class
 163 Idiopathic pure sudomotor failure
"Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure"
   (1) About 100 patients~200 patients
(2) 243 patients
Age class
 164 Oculocutaneous albinism
"Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Griscelli syndrome"
 15 trials 
 3 / 9 / 1 / 0 
 57 drugs 
 [ 34 drugs
 34 genes 
 136 pathways 
(1) About 5,000 patients (2,800~11,200 patients)
(2) 20 patients
Age class
 165 Pachydermoperiostosis
   (1) Less than 100 patients
(2) 13 patients
Age class
 166 Pseudoxanthoma elasticum
"PXE"
 11 trials 
 1 / 8 / 2 / 1 
 23 drugs 
 [ 6 drugs
 5 genes 
 26 pathways 
(1) About 300 patients
(2) 73 patients
Age class
 167 Marfan syndrome
 19 trials 
 15 / 6 / 12 / 4 
 38 drugs 
 [ 10 drugs
 10 genes 
 49 pathways 
(1) About 15,000~20,000 patients
(2) 849 patients
Age class
Biobank
 168 Ehlers-Danlos syndrome
"EDS", "cEDS", "hEDS", "clEDS", "vEDS", "kEDS", "aEDS", "dEDS", "DDEDS"
 7 trials 
 0 / 1 / 2 / 1 
 16 drugs 
 [ 8 drugs
 9 genes 
 54 pathways 
(1) About 20,000 patients
(2) 144 patients
Age class
Biobank
Animal model
 169 Menkes disease
 6 trials 
 1 / 1 / 1 / 0 
 6 drugs 
 [ 3 drugs
 (1) Less than 100 patients
(2) -
Age class
Biobank
 170 Occipital horn syndrome
 1 trial 
 0 / 0 / 1 / 0 
 3 drugs 
 [ 2 drugs
 (1) Less than 100 patients
(2) 1 patient
Age class
 171 Wilson disease
 50 trials 
 34 / 15 / 26 / 10 
 59 drugs 
 [ 17 drugs
 3 genes 
 28 pathways 
(1) About 3,000 patients
(2) 621 patients
Age class
Biobank
 172 Hypophosphatasia
 32 trials 
 12 / 20 / 4 / 5 
 18 drugs 
 [ 4 drugs
 3 genes 
 6 pathways 
(1) About 100~200 patients
(2) 15 patients
Age class
 173 VATER syndrome
"VATER association", "VACTERL association"
   (1) About 500 patients
(2) 18 patients
Age class
 174 Nasu-Hakola disease
"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL"
   (1) About 200 patients
(2) 5 patients
Age class
 175 Weaver syndrome
   (1) Less than 100 patients
(2) -
Age class
 176 Coffin-Lowry syndrome
   (1) One patient per tens of thousand population
(2) 4 patients
Age class
 177 Joubert syndrome related disorder
"Joubert syndrome and related disorder", "Joubert syndrome", "JSRD", "Arima syndrome", "Senior-Loken syndrome", "Senior-Løken syndrome", "COACH syndrome", "Orofaciodigital syndrome"
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ - ] 
 (1) Less than 100 patients
(2) 6 patients
Age class
 178 Mowat-Wilson syndrome
   (1) About 1,000 patients
(2) 13 patients
Age class
 179 Williams syndrome
 4 trials 
 0 / 0 / 0 / 1 
 13 drugs 
 [ 7 drugs
 8 genes 
 32 pathways 
(1) Occurrence: One patient per twenty thousand population
(2) 40 patients
Age class
 180 ATR-X syndrome
"Alpha-thalassemia mental retardation syndrome"
   (1) Less than 100 patients
(2) 6 patients
Age class
 181 Crouzon syndrome
   (1) [Disease ID 181-184 total] About 900 patients
(2) 14 patients
Age class
 182 Apert syndrome
   (1) [Disease ID 181-184 total] About 900 patients
(2) 5 patients
Age class
 183 Pfeiffer syndrome
   (1) [Disease ID 181-184 total] About 900 patients
(2) 5 patients
Age class
 184 Antley-Bixler syndrome
   (1) [Disease ID 181-184 total] About 900 patients
(2) 2 patients
Age class
 185 Coffin-Siris syndrome
   (1) Less than 100 patients
(2) 4 patients
Age class
 186 Rothmund-Thomson syndrome
"RAPADILINO syndrome", "Baller-Gerold syndrome"
 1 trial 
 0 / 0 / 0 / 0 
 2 drugs 
 [ 1 drug
 (1) Less than 100 patients
(2) 2 patients
Age class
 187 Kabuki syndrome
 2 trials 
 0 / 0 / 0 / 0 
 7 drugs 
 [ 2 drugs
 3 genes 
 15 pathways 
(1) About 3,000~4,000 patients
(2) 9 patients
Age class
 188 Polysplenia syndrome
   (1) [Disease ID 188-189 total] About 2,000 patients
(2) 40 patients
Age class
 189 Asplenia syndrome
   (1) [Disease ID 188-189 total] About 2,000 patients
(2) 69 patients
Age class
 190 Branchio-oto-renal syndrome
"BOR syndrome"
   (1) About 300 patients
(2) 4 patients
Age class
 191 Werner syndrome
 3 trials 
 2 / 1 / 0 / 0 
 4 drugs 
 [ 3 drugs
 1 gene 
 5 pathways 
(1) About 2,000 patients
(2) 107 patients
Age class
Biobank
 192 Cockayne syndrome
"CS"
 4 trials 
 1 / 3 / 0 / 0 
 7 drugs 
 [ 3 drugs
 1 gene 
 50 pathways 
(1) Less than 100 patients
(2) 4 patients
Age class
Biobank
 193 Prader-Willi syndrome
 95 trials 
 31 / 36 / 40 / 13 
 104 drugs 
 [ 27 drugs
 50 genes 
 63 pathways 
(1) About 1,000 patients
(2) 150 patients
Age class
 194 Sotos syndrome
   (1) About 2,500 patients
(2) 12 patients
Age class
 195 Noonan syndrome
 14 trials 
 0 / 3 / 6 / 0 
 15 drugs 
 [ 5 drugs
 2 genes 
 9 pathways 
(1) About 600 patients
(2) 32 patients
Age class
 196 Young-Simpson syndrome
   (1) About 100 patients
(2) -
Age class
 197 1p36 deletion syndrome
   (1) About 100 patients
(2) 8 patients
Age class
 198 4p deletion syndrome
"4p-syndrome"
   (1) Less than about 1,000 patients
(2) 4 patients
Age class
 199 5p deletion syndrome
"5p-syndrome"
   (1) Less than about 1,000 patients (One per fifty thousand born, probably less than 1,000 patients estimated)
(2) 1 patient
Age class
 200 Paternal uniparental disomy of chromosome 14
"No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome"
   (1) Less than 100 patients
(2) 5 patients
Age class
 201 Angelman syndrome
 19 trials 
 6 / 5 / 5 / 0 
 30 drugs 
 [ 7 drugs
 22 genes 
 20 pathways 
(1) 500~1,000 patients
(2) 21 patients
Age class
 202 Smith-Magenis syndrome
 10 trials 
 12 / 6 / 4 / 2 
 10 drugs 
 [ 4 drugs
 4 genes 
 6 pathways 
(1) Less than 100 patients
(2) 1 patient
Age class
 203 22q11.2 deletion syndrome
 3 trials 
 1 / 0 / 0 / 0 
 3 drugs 
 [ - ] 
 (1) About 4,500 patients
(2) 53 patients
Age class
 204 Emanuel syndrome
"Derivative 22 syndrome"
   (1) Less than 100 patients
(2) 3 patients
Age class
 205 Fragile X syndrome related disease
"Fragile X-associated tremor/ataxia syndrome", "FXTAS"
 3 trials 
 0 / 2 / 0 / 0 
 3 drugs 
 [ 2 drugs
 21 genes 
 25 pathways 
(1) [Disease ID 205-206 total] Less than 100 patients
(2) 3 patients
Age class
 206 Fragile X syndrome
 98 trials 
 31 / 46 / 14 / 7 
 73 drugs 
 [ 27 drugs
 46 genes 
 57 pathways 
(1) [Disease ID 205-206 total] Less than 100 patients
(2) 2 patients
Age class
 207 Persistent truncus arteriosus
   (1) About 500 patients
(2) 26 patients
Age class
 208 Corrected transposition of great arteries
   (1) [Disease ID 208-209 total] About 900 patients
(2) 141 patients
Age class
 209 Complete transposition of great vessel
"Complete transposition of great arteries", "Complete TGA"
   (1) [Disease ID 208-209 total] About 900 patients
(2) 176 patients
Age class
 210 Single Ventricle
"SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome"
 47 trials 
 41 / 17 / 22 / 10 
 54 drugs 
 [ 23 drugs
 32 genes 
 66 pathways 
(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects)
(2) 301 patients
Age class
 211 Hypoplastic left heart syndrome
"HLHS"
 20 trials 
 11 / 9 / 0 / 0 
 28 drugs 
 [ 9 drugs
 5 genes 
 13 pathways 
(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects)
(2) 31 patients
Age class
 212 Tricuspid atresia
"TA"
 6 trials 
 2 / 2 / 0 / 0 
 8 drugs 
 [ 7 drugs
 8 genes 
 12 pathways 
(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects)
(2) 137 patients
Age class
 213 Pulmonary atresia without ventricular septum defect
"Pulmonary atresia with intact ventricular septum", "Pulmonary atresia"
   (1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects)
(2) 92 patients
Age class
 214 Pulmonary atresia with ventricular septum defect
"PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia", "TFPA"
 2 trials 
 0 / 0 / 0 / 0 
 4 drugs 
 [ 4 drugs
 (1) [Disease ID 214-216 total] About 5,500 patients (Patients of tetralogy of Fallot related diseases)
(2) 79 patients
Age class
 215 Tetralogy of Fallot
"Fallot tetralogy"
 19 trials 
 2 / 3 / 1 / 1 
 35 drugs 
 [ 16 drugs
 16 genes 
 47 pathways 
(1) [Disease ID 214-216 total] About 5,500 patients (Patients of tetralogy of Fallot related diseases)
(2) 519 patients
Age class
 216 Double outlet right ventricle
   (1) [Disease ID 214-216 total] About 5,500 patients (Patients of tetralogy of Fallot related diseases)
(2) 165 patients
Age class
 217 Ebstein disease
"Ebstein malformation"
   (1) About 300 patients
(2) 99 patients
Age class
 218 Alport syndrome
 16 trials 
 16 / 8 / 8 / 3 
 24 drugs 
 [ 11 drugs
 5 genes 
 27 pathways 
(1) About 1,200 patients
(2) 161 patients
Age class
Animal model
 219 Galloway-Mowat syndrome
   (1) About 200 patients
(2) -
Age class
 220 Rapidly progressive glomerulonephritis
 2 trials 
 0 / 1 / 2 / 0 
 5 drugs 
 [ 2 drugs
 1 gene 
 1 pathway 
(1) About 3,800~5,800 patients in total estimated
(2) 885 patients
Age class
Animal model
 221 Anti-glomerular basement membrane disease
 1 trial 
 0 / 1 / 0 / 0 
 3 drugs 
 [ 1 drug
 (1) About 200~400 patients
(2) 240 patients
Age class
 222 Primary nephrotic syndrome
"Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Membranoproliferative glomerulonephritis", "MPGN"
 234 trials 
 103 / 100 / 49 / 38 
 241 drugs 
 [ 78 drugs
 59 genes 
 185 pathways 
(1) About 16,000 patients
(2) 10,109 patients
Age class
 223 Primary membranoproliferative glomerulonephritis
"Dense deposit disease"
 18 trials 
 19 / 14 / 3 / 3 
 14 drugs 
 [ 7 drugs
 7 genes 
 14 pathways 
(1) About 1,000 patients
(2) 265 patients
Age class
 224 Purpura nephritis
 10 trials 
 2 / 3 / 0 / 1 
 41 drugs 
 [ 19 drugs
 15 genes 
 56 pathways 
(1) 400~640 cases / year
(2) 802 patients
Age class
 225 Congenital nephrogenic diabetes insipidus
"Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus"
 12 trials 
 7 / 4 / 1 / 1 
 45 drugs 
 [ 17 drugs
 30 genes 
 63 pathways 
(1) About 200 patients
(2) 40 patients
Age class
 226 Interstitial cystitis with Hunners ulcer
"Interstitial cystitis"
 133 trials 
 46 / 49 / 25 / 16 
 151 drugs 
 [ 46 drugs
 48 genes 
 137 pathways 
(1) About 2,000 patients
(2) 720 patients
Age class
 227 Osler disease
"Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease"
 49 trials 
 21 / 30 / 11 / 4 
 69 drugs 
 [ 21 drugs
 23 genes 
 132 pathways 
(1) About 10,000 patients
(2) 663 patients
Age class
 228 Bronchiolitis obliterans
"Obliterating bronchiolitis"
 92 trials 
 59 / 36 / 35 / 17 
 125 drugs 
 [ 34 drugs
 33 genes 
 152 pathways 
(1) About 300~500 patients
(2) 25 patients
Age class
 229 Autoimmune pulmonary alveolar proteinosis
"Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis", "PAP"
 35 trials 
 42 / 22 / 19 / 7 
 30 drugs 
 [ 8 drugs
 3 genes 
 12 pathways 
(1) About 900 patients (Autoimmune and congenital pulmonary alveolar proteinoses)
(2) 165 patients
Age class
 230 Alveolar hypoventilation syndrome
"AHS", "Hypoventilation syndrome", "OHS", "CCHS", "Idiopathic central alveolar hypoventilation", "ICAH"
 8 trials 
 0 / 2 / 2 / 0 
 11 drugs 
 [ 5 drugs
 18 genes 
 27 pathways 
(1) About 3,000 patients
(2) 98 patients
Age class
 231 Alpha-1-antitrypsin deficiency
"AATD"
 83 trials 
 63 / 56 / 31 / 12 
 89 drugs 
 [ 16 drugs
 35 genes 
 46 pathways 
(1) Less than 100 patients
(2) 14 patients
Age class
 232 Carney complex
 1 trial 
 0 / 1 / 0 / 0 
 3 drugs 
 [ 1 drug
 1 gene 
 29 pathways 
(1) Less than 100 patients
(2) 18 patients
Age class
 233 Wolfram syndrome
"Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome"
 6 trials 
 6 / 5 / 2 / 1 
 12 drugs 
 [ 7 drugs
 11 genes 
 40 pathways 
(1) About 200 patients
(2) 7 patients
Age class
 234 Peroxisomal disease (except Adrenoleukodystrophy)
"Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "PEX gene disorder", "Zellweger syndrome", "Neonatal adrenoleukodystrophy", "Rhizomelic chondrodysplasia punctata type 1", "RCDP type 1", "RCDP1", "Peroxisomal beta-oxidation enzyme deficiency", "Acyl-CoA oxidase deficiency", "AOX deficiency", "D-Bifunctional protein deficiency", "DBP deficiency", "Sterol carrier protein X deficiency", "SCPx deficiency", "2-methylacyl-CoA racemase deficiency", "Alpha-methylacyl-CoA racemase deficiency", "AMACR deficiency", "Refsum disease", "Plasmalogen biosynthesis enzyme deficiency", "Rhizomelic chondrodysplasia punctata type 2", "RCDP type 2", "RCDP2", "Rhizomelic chondrodysplasia punctata type 3", "RCDP type 3", "RCDP3", "Primary hyperoxaluria type 1", "PH1", "Acatalasemia", "Acatalasia", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS"
 38 trials 
 30 / 20 / 18 / 5 
 37 drugs 
 [ 12 drugs
 12 genes 
 42 pathways 
(1) Less than 100 patients
(2) -
Age class
 235 Hypoparathyroidism
"Accessory thyroid hypergasia disease"
 67 trials 
 28 / 18 / 23 / 15 
 112 drugs 
 [ 24 drugs
 4 genes 
 5 pathways 
(1) About 900 patients
(2) 254 patients
Age class
 236 Pseudohypoparathyroidism
"PHP", "PHP1a", "PHP1b", "PHP1c", "PHP2"
 6 trials 
 0 / 4 / 0 / 1 
 4 drugs 
 [ 2 drugs
 20 genes 
 28 pathways 
(1) About 400 patients
(2) 95 patients
Age class
 237 ACTH unresponsiveness
"Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome"
   (1) Less than 100 patients
(2) 10 patients
Age class
 238 Vitamin D-resistant rickets
"Vitamin D-resistant osteomalacia", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia", "VDRR", "VDRO"
 1 trial 
 0 / 0 / 1 / 0 
 1 drug 
 [ - ] 
 (1) 117 cases per year in Japan (95% CI 75-160) estimated by the national survey of the MHLW research group of abnormalities in hormonal signaling mechanisms
(2) 251 patients
Age class
 239 Vitamin D-dependent rickets
"Vitamin D-dependent osteomalacia", "VDDR", "VDDR1", "VDDR2", "VDDO"
   (1) Less than 100 patients
(2) 5 patients
Age class
 240 Phenylketonuria
"PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia"
 125 trials 
 77 / 30 / 32 / 24 
 95 drugs 
 [ 11 drugs
 1 gene 
 5 pathways 
(1) About 500 patients
(2) 227 patients
Age class
 241 Hypertyrosinemia type I
"Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I", "Fumarylacetoacetate hydrolase deficiency", "FAH deficiency"
 14 trials 
 4 / 1 / 1 / 1 
 7 drugs 
 [ 1 drug
 1 gene 
 5 pathways 
(1) [Disease ID 241-243 total] Less than 100 patients
(2) 2 patients
Age class
 242 Hypertyrosinemia type II
"Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II"
   (1) [Disease ID 241-243 total] Less than 100 patients
(2) -
Age class
 243 Hypertyrosinemia type III
"High tyrosinemia", "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III"
   (1) [Disease ID 241-243 total] Less than 100 patients
(2) 1 patient
Age class
 244 Maple syrup urine disease
"MSUD"
 1 trial 
 0 / 1 / 1 / 0 
 1 drug 
 [ 1 drug
 (1) About 100 patients
(2) 11 patients
Age class
 245 Propionic acidemia
 9 trials 
 3 / 5 / 1 / 0 
 15 drugs 
 [ 3 drugs
 1 gene 
 6 pathways 
(1) About 300 patients
(2) 10 patients
Age class
 246 Methylmalonic acidemia
 14 trials 
 8 / 9 / 2 / 1 
 22 drugs 
 [ 2 drugs
 1 gene 
 6 pathways 
(1) About 300 patients
(2) 22 patients
Age class
 247 Isovaleric acidemia
"Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency"
   (1) Less than 100 patients
(2) 2 patients
Age class
 248 Glucose transporter type 1 deficiency
"GLUT1 deficiency"
 30 trials 
 43 / 20 / 9 / 8 
 9 drugs 
 [ 1 drug
 (1) Less than 100 patients
(2) 11 patients
Age class
 249 Glutaric acidemia type 1
   (1) Less than 100 patients
(2) 3 patients
Age class
 250 Glutaric acidemia type 2
"Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD"
   (1) Less than 100 patients
(2) 5 patients
Age class
 251 Urea cycle disorder
"N-acetylglutamate synthase deficiency", "NAGS deficiency", "Carbamoyl phosphate synthetase I deficiency", "CPS1 deficiency", "Ornithine transcarbamylase deficiency", "OTC deficiency", "Classic citrullinemia", "Citrullinemia type I", "Argininosuccinic aciduria", "Argininemia", "Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome", "HHH syndrome"
 42 trials 
 37 / 25 / 4 / 7 
 45 drugs 
 [ 10 drugs
 4 genes 
 29 pathways 
(1) OTC deficiency: About 500 patients; CPSI deficiency: About 100 patients; Argininosuccinic aciduria: About 100 patients; Other urea cycle disorders: Less than 100 patients;
(2) 80 patients
Age class
 252 Lysinuric protein intolerance
   (1) Less than 100 patients
(2) 24 patients
Age class
 253 Congenital folate malabsorption
"Hereditary folate malabsorption", "Folate malabsorption"
   (1) Less than 100 patients
(2) -
Age class
 254 Porphyria
"CEP", "Erythropoietic protoporphyria", "EPP", "X-linked dominant protoporphyria", "XLDP", "PCT", "HEP", "AIP", "ADP", "VP", "Hereditary coproporphyria", "HCP"
 59 trials 
 32 / 17 / 28 / 6 
 52 drugs 
 [ 17 drugs
 17 genes 
 33 pathways 
(1) About 200 patients
(2) 37 patients
Age class
 255 Multiple carboxylase deficiency
"Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency"
 1 trial 
 1 / 1 / 0 / 0 
 1 drug 
 [ - ] 
 (1) HCS deficiency: 1 / 1,000,000 occurrence in Japan; Biotinidase deficiency: a few cases reported;
(2) 4 patients
Age class
 256 Muscle glycogenosis
"Muscular glycogenosis", "Muscle glycogen storage disease", "Muscular glycogen storage disease", "Glycogen storage disease type 0", "GSD0", "Glycogen synthase deficiency", "Glycogen storage disease type II", "GSDII", "Pompe disease", "Alpha-1,4-glucosidase acid deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Glycogen storage disease type V", "GSDV", "McArdle disease", "Muscle phosphorylase deficiency", "Muscular phosphorylase deficiency", "Glycogen storage disease type VII", "GSDVII", "Tarui disease", "Phosphofructokinase deficiency", "PFK deficiency", "Glycogen storage disease type IX", "GSDIX", "Phosphorylase kinase deficiency", "Phosphoglycerate kinase deficiency", "PGK deficiency", "Glycogen storage disease type X", "GSDX", "Phosphoglycerate mutase deficiency", "Glycogen storage diseass type XI", "GSDXI", "Kanno disease", "Lactate dehydrogenase deficiency", "Glycogen storage diseass type XII", "GSDXII", "Aldolase A deficiency", "Glycogen storage diseass type XIII", "GSDXIII", "Beta-enolase deficiency", "Glycogen storage diseass type XIV", "GSDXIV", "Phosphoglucomutase deficiency", "Glycogen storage diseass type XV", "GSDXV", "Glycogenin 1 deficiency"
 161 trials 
 98 / 59 / 58 / 31 
 114 drugs 
 [ 23 drugs
 26 genes 
 106 pathways 
(1) About 3,000~6,000 patients estimated
(2) 23 patients
Age class
 257 Hepatic glycogenosis
"Liver glycogenosis", "Hepatic glycogen storage disease", "Liver glycogen storage disease", "Glycogen storage disease type I", "GSDI", "von Gierke disease", "Glucose-6-phosphatase deficiency", "G6Pase deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Adult polyglucosan body disease", "Glycogen storage disease type VI", "GSDVI", "Hers disease", "Hepatic phosphorylase deficiency", "Liver phosphorylase deficiency", "Glycogen storage disease type IX", "GSDIX", "Phosphorylase kinase deficiency"
 10 trials 
 1 / 3 / 0 / 0 
 19 drugs 
 [ 6 drugs
 1 gene 
 6 pathways 
(1) About 1,200 patients
(2) 85 patients
Age class
 258 Galactose-1-phosphate uridylyltransferase deficiency
"Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency"
   (1) Less than 100 patients
(2) 1 patient
Age class
 259 Lecithin-cholesterol acyltransferase deficiency
"LCAT deficiency", "Fish-eye disease"
 1 trial 
 0 / 0 / 0 / 0 
 2 drugs 
 [ 1 drug
 (1) Less than 100 patients
(2) 4 patients
Age class
 260 Sitosterolemia
 13 trials 
 0 / 1 / 5 / 0 
 13 drugs 
 [ 4 drugs
 1 gene 
 1 pathway 
(1) Less than 100 patients
(2) 14 patients
Age class
 261 Tangier disease
 1 trial 
 0 / 0 / 0 / 0 
 2 drugs 
 [ 1 drug
 (1) Less than 100 patients
(2) 6 patients
Age class
 262 Primary hyperchylomicronemia
   (1) About 300 patients
(2) 24 patients
Age class
 263 Cerebrotendinous xanthomatosis
"27-hydroxylase deficiency", "CYP27 deficiency"
 5 trials 
 0 / 1 / 2 / 0 
 10 drugs 
 [ 2 drugs
 2 genes 
 4 pathways 
(1) Less than 100 patients
(2) 43 patients
Age class
 264 Abetalipoproteinemia
"Microsomal triglyceride transfer protein deficiency", "MTP deficiency"
   (1) Less than 100 patients (Only a few pedigrees in Japan since the first report in 1,983)
(2) 3 patients
Age class
 265 Lipodystrophy
"Berardinelli-Seip syndrome", "Lawrence syndrome", "Barraquer-Simons syndrome"
 109 trials 
 38 / 32 / 18 / 30 
 164 drugs 
 [ 59 drugs
 26 genes 
 94 pathways 
(1) About 100 patients
(2) 28 patients
Age class
 266 Familial mediterranean fever
 27 trials 
 1 / 7 / 9 / 1 
 23 drugs 
 [ 6 drugs
 14 genes 
 57 pathways 
(1) About 300 patients
(2) 356 patients
Age class
 267 Hyper-IgD syndrome
"HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome"
 11 trials 
 0 / 2 / 8 / 0 
 6 drugs 
 [ 1 drug
 1 gene 
 42 pathways 
(1) Less than 100 patients
(2) 1 patient
Age class
 268 Nakajo-Nishimura syndrome
"Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome"
 1 trial 
 0 / 1 / 1 / 0 
 1 drug 
 [ 1 drug
 2 genes 
 33 pathways 
(1) Less than 100 patients
(2) 7 patients
Age class
Biobank
 269 Pyogenic arthritis
"Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome"
 20 trials 
 6 / 12 / 7 / 1 
 26 drugs 
 [ 10 drugs
 12 genes 
 90 pathways 
(1) Less than 100 patients
(2) 7 patients
Age class
 270 Chronic recurrent multifocal osteomyelitis
   (1) Less than 100 patients
(2) 56 patients
Age class
 271 Ankylosing spondylitis
"Spondylarthritis ankylopoietica"
 531 trials 
 299 / 142 / 221 / 108 
 343 drugs 
 [ 66 drugs
 41 genes 
 141 pathways 
(1) About 4,500 patients
(2) 3,572 patients
Age class
 272 Fibrodysplasia ossificans progressiva
"FOP"
 23 trials 
 31 / 19 / 10 / 6 
 21 drugs 
 [ 4 drugs
 10 genes 
 87 pathways 
(1) Less than 100 patients
(2) 22 patients
Age class
Biobank
 273 Congenital scoliosis with rib anomaly
"Congenital scoliosis"
   (1) Less than about 2,000 patients (Children under 11)
(2) 22 patients
Age class
 274 Osteogenesis Imperfecta
 78 trials 
 49 / 23 / 27 / 15 
 87 drugs 
 [ 19 drugs
 14 genes 
 74 pathways 
(1) About 6,000 patients
(2) 95 patients
Age class
Biobank
Animal model
 275 Thanatophoric dysplasia
   (1) Less than 100 patients
(2) 5 patients
Age class
 276 Achondroplasia
 37 trials 
 31 / 27 / 13 / 6 
 29 drugs 
 [ 6 drugs
 4 genes 
 25 pathways 
(1) 6,000 patients nationwide (estimated by frequency of occurrence)
(2) 70 patients
Age class
Biobank
Animal model
 277 Lymphangiomatosis
"Generalized lymphatic anomaly", "Gorham disease", "Gorham-Stout disease", "Diffuse lymphangiomatosis", "Mass osteolysis"
 7 trials 
 2 / 2 / 2 / 0 
 2 drugs 
 [ 2 drugs
 1 gene 
 50 pathways 
(1) About 100 patients (estimated by the national survey of the research group)
(2) 40 patients
Age class
 278 Huge lymphatic malformation with cervicofacial lesion
"Huge lymphatic malformation", "Lymphatic malformation"
 19 trials 
 12 / 11 / 5 / 3 
 23 drugs 
 [ 7 drugs
 5 genes 
 62 pathways 
(1) About 600 patients
(2) 12 patients
Age class
 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion
oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation"
 12 trials 
 2 / 5 / 1 / 2 
 23 drugs 
 [ 9 drugs
 3 genes 
 103 pathways 
(1) About 200 patients
(2) 40 patients
Age class
 280 Huge arteriovenous malformation with cervicofacial or limb lesion
"Huge arteriovenous malformation", "Arteriovenous malformation"
 22 trials 
 14 / 6 / 2 / 4 
 26 drugs 
 [ 13 drugs
 11 genes 
 147 pathways 
(1) About 700 patients
(2) 84 patients
Age class
 281 Klippel-Trenaunay-Weber syndrome
"Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS"
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 1 gene 
 50 pathways 
(1) About 3,000 patients
(2) 217 patients
Age class
 282 Congenital dyserythropoietic anemia
"CDA"
 1 trial 
 0 / 0 / 0 / 1 
 1 drug 
 [ 1 drug
 2 genes 
 4 pathways 
(1) Less than 100 patients
(2) 6 patients
Age class
 283 Acquired pure red cell aplasia
"Pure red cell aplasia"
 17 trials 
 7 / 11 / 2 / 5 
 36 drugs 
 [ 19 drugs
 16 genes 
 91 pathways 
(1) Incidence per year: 0.3 patients per one million population
(2) 661 patients
Age class
 284 Diamond-Blackfan anemia
 37 trials 
 18 / 26 / 4 / 2 
 110 drugs 
 [ 34 drugs
 22 genes 
 121 pathways 
(1) About 200 patients
(2) 19 patients
Age class
 285 Fanconi anemia
 56 trials 
 27 / 39 / 3 / 1 
 111 drugs 
 [ 31 drugs
 30 genes 
 151 pathways 
(1) About 200 patients
(2) 12 patients
Age class
Biobank
 286 Hereditary sideroblastic anemia
"Congenital sideroblastic anemia", "Sideroblastic anemia"
 6 trials 
 5 / 1 / 1 / 1 
 13 drugs 
 [ 5 drugs
 (1) Less than 100 patients
(2) 11 patients
Age class
 287 Epstein syndrome
   (1) About 200 patients
(2) 12 patients
Age class
 288 Autoimmune acquired coagulation factor deficiency
"Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "von Willebrand Disease", "Factor V deficiency"
 189 trials 
 68 / 31 / 84 / 30 
 219 drugs 
 [ 29 drugs
 18 genes 
 26 pathways 
(1) About 700 patients
(2) 289 patients
Age class
 289 Cronkhite-Canada syndrome
   (1) About 500 patients
(2) 163 patients
Age class
 290 Chronic nonspecific multiple ulcers of the small intestine
"Nonspecific multiple ulcers in the small intestine"
 1 trial 
 1 / 1 / 0 / 0 
 1 drug 
 [ 1 drug
 1 gene 
 1 pathway 
(1) About 200 patients
(2) 84 patients
Age class
 291 Hirschsprung disease, entire colon type
entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis"
 13 trials 
 0 / 1 / 1 / 1 
 32 drugs 
 [ 15 drugs
 (1) About 10,000 patients (Among them, entire colon type and small intestine type: About 1,000 patients)
(2) 11 patients
Age class
 292 Cloacal exstrophy
"Vesicointestinal fissure"
   (1) About 300 patients
(2) 13 patients
Age class
 293 Persistent cloaca
   (1) About 600 patients
(2) 30 patients
Age class
 294 Congenital diaphragmatic hernia
 12 trials 
 6 / 2 / 5 / 2 
 29 drugs 
 [ 6 drugs
 5 genes 
 14 pathways 
(1) About 5,000 patients
(2) 9 patients
Age class
 295 Infant huge hepatic hemangioma
"Infant giant liver hemangioma"
   (1) Less than 100 patients
(2) -
Age class
 296 Biliary atresia
 53 trials 
 6 / 12 / 10 / 3 
 56 drugs 
 [ 31 drugs
 43 genes 
 50 pathways 
(1) About 3,500 patients
(2) 332 patients
Age class
 297 Alagille syndrome
 26 trials 
 12 / 17 / 2 / 2 
 16 drugs 
 [ 8 drugs
 2 genes 
 2 pathways 
(1) About 200~300 patients
(2) 30 patients
Age class
 298 Hereditary pancreatitis
"Chronic pancreatitis"
 93 trials 
 19 / 26 / 17 / 7 
 168 drugs 
 [ 51 drugs
 48 genes 
 134 pathways 
(1) About 300~400 patients
(2) 23 patients
Age class
 299 Cystic fibrosis
 1,592 trials 
 783 / 493 / 523 / 227 
 1,539 drugs 
 [ 255 drugs
 81 genes 
 162 pathways 
(1) Less than 100 patients
(2) 13 patients
Age class
 300 IgG4-related disease
"Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease"
 31 trials 
 4 / 7 / 10 / 4 
 33 drugs 
 [ 16 drugs
 11 genes 
 81 pathways 
(1) About 8,000 patients
(2) 2,366 patients
Age class
 301 Macular dystrophy
"Best disease", "Stargardt disease", "Cone dystrophy", "Cone rod dystrophy", "X-linked juvenile retinoschisis", "Central areolar choroidal dystrophy"
 41 trials 
 25 / 25 / 7 / 2 
 47 drugs 
 [ 12 drugs
 12 genes 
 66 pathways 
(1) 1,000 patients
(2) 147 patients
Age class
Animal model
 302 Leber hereditary optic neuropathy
 20 trials 
 27 / 10 / 15 / 6 
 14 drugs 
 [ 4 drugs
 5 genes 
 32 pathways 
(1) Estimated number of new occurrences per year: 117 patients
(2) 97 patients
Age class
 303 Usher syndrome
 6 trials 
 9 / 6 / 1 / 1 
 11 drugs 
 [ - ] 
 (1) About 8,160 patients
(2) 18 patients
Age class
 304 Juvenile-onset bilateral sensorineural hearing loss
   (1) About 4,000 patients
(2) 24 patients
Age class
 305 Delayed endolymphatic hydrops
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 (1) About 4,000~5,000 patients
(2) 23 patients
Age class
 306 Eosinophilic sinusitis
   (1) About 20,000 patients
(2) 9,211 patients
Age class
 307 Canavan disease
 3 trials 
 1 / 1 / 0 / 0 
 5 drugs 
 [ 1 drug
 (1) A few patients
(2) 1 patient
Age class
 308 Progressive leukoencephalopathy
"Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure"
   (1) Less than 100 patients
(2) 14 patients
Age class
 309 Progressive myoclonus epilepsy
"Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME"
 11 trials 
 0 / 0 / 3 / 0 
 15 drugs 
 [ 2 drugs
 4 genes 
 9 pathways 
(1) About 3,000 patients
(2) 31 patients
Age class
Biobank
 310 Congenital anomalies syndrome
"Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome"
 10 trials 
 2 / 7 / 0 / 0 
 18 drugs 
 [ 10 drugs
 3 genes 
 7 pathways 
(1) About 4,000 patients
(2) 26 patients
Age class
 311 Congenital tricuspid stenosis
   (1) About 500 patients
(2) 2 patients
Age class
 312 Congenital mitral stenosis
   (1) About 100 patients
(2) 5 patients
Age class
 313 Congenital pulmonary vein stenosis
   (1) About 80 patients
(2) 1 patient
Age class
 314 Vascular sling
   (1) About 600 patients
(2) 2 patients
Age class
 315 Nail-Patella syndrome
"LMX1B-associated nephropathy"
   (1) About 500 patients
(2) 8 patients
Age class
 316 Carnitine cycle disorder
"Carnitine palmitoyltransferase I deficiency", "CPT1 deficiency", "Carnitine palmitoyltransferase II deficiency", "CPT2 deficiency", "Carnitine-acylcarnitine translocase deficiency", "CACT deficiency", "Carnitine transporter deficiency", "OCTN-2 deficiency"
 4 trials 
 0 / 1 / 1 / 0 
 10 drugs 
 [ 4 drugs
 2 genes 
 9 pathways 
(1) About 960 patients
(2) 12 patients
Age class
 317 Trifunctional protein deficiency
 3 trials 
 0 / 0 / 0 / 0 
 8 drugs 
 [ 4 drugs
 1 gene 
 1 pathway 
(1) Less than 100 patients
(2) 3 patients
Age class
 318 Citrin deficiency
"NICCD", "Adult-onset type II citrullinemia", "CTLN2"
 2 trials 
 0 / 1 / 0 / 0 
 2 drugs 
 [ 2 drugs
 (1) About 1,500 patients
(2) 38 patients
Age class
Biobank
Animal model
 319 Sepiapterin reductase deficiency
   (1) Less than 100 patients (About one patient)
(2) 2 patients
Age class
 320 Inherited glycosylphosphatidylinositol deficiency
"Congenital glycosylphosphatidylinositol deficiency"
   (1) Less than 100 patients
(2) -
Age class
 321 Non-ketotic hyperglycinemia
   (1) Less than 100 patients
(2) 1 patient
Age class
 322 Beta-ketothiolase deficiency
   (1) Less than 100 patients
(2) -
Age class
 323 Aromatic L-amino acid decarboxylase deficiency
   (1) Less than 100 patients (About 10 cases)
(2) 3 patients
Age class
 324 Methylglutaconic aciduria
"3-methylglutaconyl-CoA hydratase deficiency", "3-MGA", "Barth syndrome", "Costeff syndrome", "Mitochondrial respiratory chain disorder", "Dilated cardiomyopathy with ataxia syndrome", "DCMA syndrome"
 3 trials 
 5 / 2 / 2 / 1 
 4 drugs 
 [ 3 drugs
 1 gene 
 8 pathways 
(1) Less than 100 patients
(2) -
Age class
 325 Hereditary autoinflammatory syndrome
"NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "Aicardi-Goutieres syndrome", "A20 haploinsufficiency"
 6 trials 
 1 / 5 / 1 / 0 
 10 drugs 
 [ 6 drugs
 2 genes 
 33 pathways 
(1) Less than 100 patients (Adult patients reported in all cases)
(2) 7 patients
Age class
 326 Osteopetrosis
 20 trials 
 5 / 13 / 4 / 0 
 52 drugs 
 [ 14 drugs
 16 genes 
 78 pathways 
(1) About 100 patients
(2) 16 patients
Age class
Animal model
 327 Idiopathic thrombosis
   (1) Based on the national survey of the research group, the total number of patients in Japan is estimated as about 2,000 patients. Occurrence per year in naonates and infants: Less than 100 patients, in adult: About 500 patients.
(2) 114 patients
Age class
 328 Anterior segment dysgenesis
   (1) About 6,000 patients
(2) 11 patients
Age class
 329 Aniridia
 3 trials 
 0 / 2 / 0 / 0 
 2 drugs 
 [ 2 drugs
 (1) About 1,200 patients
(2) 94 patients
Age class
 330 Congenital tracheal stenosis
"Congenital subglottic stenosis"
 1 trial 
 0 / 1 / 0 / 0 
 3 drugs 
 [ 2 drugs
 (1) About 1,000 patients
(2) 20 patients
Age class
 331 Idiopathic multicentric castleman disease
"Castleman disease"
 30 trials 
 16 / 20 / 2 / 3 
 44 drugs 
 [ 23 drugs
 30 genes 
 148 pathways 
(1) About 1,500 patients
(2) 1,131 patients
Age class
 332 Gelatinous drop-like corneal dystrophy
   (1) About 400 patients
(2) -
Age class
 333 Hutchinson-Gilford syndrome
"Hutchinson-Gilford progeria syndrome", "HGPS"
 7 trials 
 2 / 5 / 0 / 0 
 8 drugs 
 [ 3 drugs
 4 genes 
 6 pathways 
(1) Less than 100 patients
(2) -
Age class

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