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 Disease(疾患リスト):指定難病333疾患の臨床試験情報(2019年11月) 

疾患数:226,臨床試験数:15,194,薬物数:12,172(DrugBank:1,666),標的遺伝子数:551,標的パスウェイ数:275
 告示 
 番号
 
 疾患名 
 Disease name (Searched query to trials) --- Original disease list
 臨床試験数 
 Phase 1 / 2 / 3 / 4 
 薬物数 
 [ DrugBank ] 
 標的遺伝子/ 
 パスウェイ数
 
 国内患者数 
 (指定難病「概要、診断基準等」より)
 Link 
 1  球脊髄性筋萎縮症 
 "Spinal and bulbar muscular atrophy", "Spinobulbar muscular atrophy", "Kennedy disease" 
 11 trials 
 1 / 6 / 1 / 1 
 14 drugs 
 [ 8 drugs
 10 genes 
 15 pathways
 
 1,223人  Biobank 
 Animal model
 2  筋萎縮性側索硬化症 
 "Amyotrophic lateral sclerosis" 
 322 trials 
 89 / 168 / 51 / 5 
 365 drugs 
 [ 127 drugs
 161 genes 
 207 pathways
 
 9,096人  Biobank 
 Animal model
 3  脊髄性筋萎縮症 
 "Spinal muscular atrophy", "Myelopathic muscular atrophy", "SMA I", "Werdnig-Hoffman disease", "SMA II", "Dubowitz disease", "SMA III", "Kugelberg-Welander disease", "SMA IV" 
 75 trials 
 22 / 46 / 19 / 3 
 73 drugs 
 [ 24 drugs
 49 genes 
 75 pathways
 
 712人  Biobank 
 Animal model
 4  原発性側索硬化症 
 "Primary lateral sclerosis" 
 6 trials 
 3 / 2 / 0 / 1 
 12 drugs 
 [ 7 drugs
 17 genes 
 29 pathways
 
 175人(研究班による)  Biobank 
 Animal model
 5  進行性核上性麻痺 
 "Progressive supranuclear palsy" 
 55 trials 
 19 / 18 / 10 / 1 
 78 drugs 
 [ 31 drugs
 59 genes 
 86 pathways
 
 約8,100人  Biobank 
 Animal model
 6  パーキンソン病 
 "Parkinson disease" 
 1,307 trials 
 245 / 431 / 249 / 138 
 1,322 drugs 
 [ 270 drugs
 161 genes 
 166 pathways
 
 約108,800人(パーキンソン病関連疾患から推計)  Biobank 
 Animal model
 7  大脳皮質基底核変性症 
 "Corticobasal degeneration", "Corticobasal syndrome" 
 15 trials 
 5 / 2 / 1 / 0 
 21 drugs 
 [ 9 drugs
 6 genes 
 13 pathways
 
 3,500人  Biobank 
 Animal model
 8  ハンチントン病 
 "Huntington disease", "Huntington chorea" 
 110 trials 
 34 / 54 / 19 / 3 
 125 drugs 
 [ 50 drugs
 87 genes 
 146 pathways
 
 933人  Biobank 
 Animal model
 9  神経有棘赤血球症 
 "Neuroacanthocytosis", "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome" 
 -  -  -  100人未満(研究班による)  Biobank 
 Animal model
 10  シャルコー・マリー・トゥース病 
 "Charcot-Marie-Tooth disease" 
 19 trials 
 4 / 12 / 4 / 0 
 31 drugs 
 [ 9 drugs
 12 genes 
 14 pathways
 
 6,250人(研究班による)  Biobank 
 Animal model
 11  重症筋無力症 
 "Myasthenia gravis" 
 96 trials 
 8 / 34 / 32 / 6 
 101 drugs 
 [ 36 drugs
 33 genes 
 80 pathways
 
 22,998人  Biobank 
 Animal model
 12  先天性筋無力症候群 
 "Congenital myasthenic syndrome", "End-plate acetylcholine receptor deficiency", "Sodium channel myasthenia", "End-plate acetylcholine esterase deficiency" 
 4 trials 
 2 / 1 / 0 / 0 
 5 drugs 
 [ 3 drugs
 3 genes 
 11 pathways
 
 100人未満(研究班による)  Biobank 
 Animal model
 13  多発性硬化症/視神経脊髄炎 
 "Multiple sclerosis", "Neuromyelitis optica", "Devic disease", "Balo concentric sclerosis", "Baló concentric sclerosis" 
 1,398 trials 
 207 / 412 / 334 / 196 
 1,427 drugs 
 [ 306 drugs
 216 genes 
 210 pathways
 
 17,073人  Biobank 
 Animal model
 14  慢性炎症性脱髄性多発神経炎/多巣性運動ニューロパチー 
 "Chronic inflammatory demyelinating polyneuropathy", "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "Multifocal motor neuropathy", "CIDP" 
 65 trials 
 1 / 17 / 30 / 5 
 91 drugs 
 [ 23 drugs
 15 genes 
 57 pathways
 
 4,633人  Biobank 
 Animal model
 15  封入体筋炎 
 "Inclusion body myositis" 
 21 trials 
 3 / 13 / 8 / 0 
 23 drugs 
 [ 10 drugs
 11 genes 
 112 pathways
 
 1,000人(研究班による)  Biobank 
 Animal model
 16  クロウ・深瀬症候群 
 "Crow-Fukase syndrome", "POEMS syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "Takatsuki disease", "PEP syndrome", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome" 
 10 trials 
 0 / 7 / 2 / 0 
 12 drugs 
 [ 6 drugs
 4 genes 
 66 pathways
 
 340人(研究班による)  Biobank 
 Animal model
 17  多系統萎縮症 
 "Multiple system atrophy", "Olivopontocerebellar atrophy", "Striatonigral degeneration", "Shy-Drager syndrome" 
 51 trials 
 14 / 17 / 8 / 1 
 85 drugs 
 [ 41 drugs
 57 genes 
 98 pathways
 
 11,733人  Biobank 
 Animal model
 18  脊髄小脳変性症(多系統萎縮症を除く。) 
 "Spinocerebellar degeneration" 
 14 trials 
 1 / 6 / 6 / 2 
 11 drugs 
 [ 5 drugs
 20 genes 
 11 pathways
 
 25,447人  Biobank 
 Animal model
 19  ライソゾーム病 
 "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" 
 399 trials 
 116 / 173 / 93 / 35 
 369 drugs 
 [ 77 drugs
 59 genes 
 147 pathways
 
 911人  Biobank 
 Animal model
 20  副腎白質ジストロフィー 
 "Adrenoleukodystrophy", "Adrenomyeloneuropathy" 
 31 trials 
 8 / 16 / 12 / 0 
 60 drugs 
 [ 27 drugs
 17 genes 
 102 pathways
 
 193人  Biobank 
 Animal model
 21  ミトコンドリア病 
 "Mitochondrial disease" 
 20 trials 
 5 / 10 / 3 / 1 
 16 drugs 
 [ 6 drugs
 19 genes 
 8 pathways
 
 1,087人  Biobank 
 Animal model
 22  もやもや病 
 "Moyamoya disease", "Occlusive disease in circle of Willis" 
 8 trials 
 1 / 1 / 0 / 1 
 11 drugs 
 [ 10 drugs
 19 genes 
 30 pathways
 
 15,177人  Biobank 
 Animal model
 23  プリオン病 
 "Prion disease", "Creutzfeldt-Jakob disease", "Gerstmann-Straussler-Scheinker syndrome", "Fatal familial insomnia", "Kuru disease" 
 3 trials 
 0 / 1 / 0 / 0 
 5 drugs 
 [ 2 drugs
 -  584人  Biobank 
 Animal model
 24  亜急性硬化性全脳炎 
 "Subacute sclerosing panencephalitis" 
 -  -  -  約100人  Biobank 
 Animal model
 25  進行性多巣性白質脳症 
 "Progressive multifocal leukoencephalopathy", "Leukoencephalopathy, progressive multifocal" 
 16 trials 
 2 / 6 / 0 / 2 
 26 drugs 
 [ 20 drugs
 7 genes 
 34 pathways
 
 100人未満(研究班による)  Biobank 
 Animal model
 26  HTLV-1関連脊髄症 
 "HTLV-1-associated myelopathy", "Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy" 
 23 trials 
 7 / 13 / 8 / 0 
 39 drugs 
 [ 26 drugs
 37 genes 
 116 pathways
 
 3,000人 (研究班による)  Biobank 
 Animal model
 27  特発性基底核石灰化症 
 "Idiopathic basal ganglia calcification", "Idiopathic basal ganglia calcification disease", "Fahr disease", "FIBGC", "Primary familial brain calcification", "PFBC" 
 -  -  -  200人(研究班による)  Biobank 
 Animal model
 28  全身性アミロイドーシス 
 "Systemic amyloidosis", "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "Familial amyloid polyneuropathy", "Senile systemic amylodosis" 
 111 trials 
 27 / 62 / 25 / 0 
 123 drugs 
 [ 62 drugs
 50 genes 
 161 pathways
 
 1,802人  Biobank 
 Animal model
 29  ウルリッヒ病 
 "Ullrich disease", "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy" 
 -  -  -  約300人(研究班による)  Biobank 
 Animal model
 30  遠位型ミオパチー 
 "Distal myopathy", "Distal muscular dystrophy", "Miyoshi myopathy", "Oculopharyngodistal myopathy" 
 8 trials 
 1 / 3 / 5 / 0 
 13 drugs 
 [ 2 drugs
 1 gene 
 1 pathway
 
 400人(研究班による)  Biobank 
 Animal model
 31  ベスレムミオパチー 
 "Bethlem myopathy", "Beth Rem myopathy" 
 -  -  -  100人未満(研究班による)  Biobank 
 Animal model
 32  自己貪食空胞性ミオパチー 
 "Autophagic vacuolar myopathy", "Danon disease", "X-linked myopathy with excessive autophagy", "XMEA" 
 1 trial 
 1 / 0 / 0 / 0 
 1 drug 
 [ - ] 
 -  100人未満(研究班による)  Biobank 
 Animal model
 33  シュワルツ・ヤンペル症候群 
 "Schwartz-Jampel syndrome", "Schwarz-Yanperu syndrome", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome" 
 -  -  -  100人未満(研究班による)  Biobank 
 Animal model
 34  神経線維腫症 
 "Neurofibromatosis", "von Recklinghausen disease" 
 98 trials 
 22 / 65 / 4 / 4 
 130 drugs 
 [ 60 drugs
 84 genes 
 186 pathways
 
 3,588人  Biobank 
 Animal model
 35  天疱瘡 
 "Pemphigus" 
 57 trials 
 7 / 24 / 15 / 1 
 81 drugs 
 [ 36 drugs
 17 genes 
 149 pathways
 
 約6,000人  Biobank 
 Animal model
 36  表皮水疱症 
 "Epidermolysis bullosa", "Kindler syndrome" 
 80 trials 
 26 / 51 / 11 / 2 
 118 drugs 
 [ 31 drugs
 27 genes 
 94 pathways
 
 347人  Biobank 
 Animal model
 37  膿疱性乾癬(汎発型) 
 "Generalised pustular psoriasis", "Pustular psoriasis", "Herpetic impetigo" 
 29 trials 
 1 / 7 / 16 / 2 
 34 drugs 
 [ 15 drugs
 16 genes 
 88 pathways
 
 2,072人  Biobank 
 Animal model
 38  スティーヴンス・ジョンソン症候群 
 "Stevens-Johnson syndrome", "Mucocutaneous ocular syndrome" 
 10 trials 
 5 / 6 / 2 / 1 
 14 drugs 
 [ 8 drugs
 9 genes 
 92 pathways
 
 約1,500人  Biobank 
 Animal model
 39  中毒性表皮壊死症 
 "Toxic epidermal necrolysis", "Toxic epidermal necrosis" 
 11 trials 
 4 / 6 / 2 / 1 
 17 drugs 
 [ 9 drugs
 11 genes 
 97 pathways
 
 約200人  Biobank 
 Animal model
 40  高安動脈炎 
 "Takayasu arteritis", "Aortitis syndrome", "Pulseless disease" 
 16 trials 
 0 / 3 / 4 / 0 
 23 drugs 
 [ 16 drugs
 16 genes 
 94 pathways
 
 約7,000人  Biobank 
 Animal model
 41  巨細胞性動脈炎 
 "Giant cell arteritis", "Temporal arteritis" 
 46 trials 
 4 / 16 / 20 / 3 
 77 drugs 
 [ 31 drugs
 32 genes 
 118 pathways
 
 約700人(研究班による)  Biobank 
 Animal model
 42  結節性多発動脈炎 
 "Polyarteritis nodosa" 
 9 trials 
 0 / 4 / 1 / 2 
 22 drugs 
 [ 15 drugs
 23 genes 
 48 pathways
 
 9,610人(顕微鏡的多発血管炎との合計)  Biobank 
 Animal model
 43  顕微鏡的多発血管炎 
 "Microscopic polyangiitis" 
 40 trials 
 1 / 15 / 19 / 5 
 51 drugs 
 [ 19 drugs
 13 genes 
 79 pathways
 
 9,610人(結節性多発動脈炎との合計)  Biobank 
 Animal model
 44  多発血管炎性肉芽腫症 
 "Wegener granulomatosis", "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis" 
 40 trials 
 1 / 14 / 19 / 4 
 57 drugs 
 [ 22 drugs
 13 genes 
 34 pathways
 
 1,942人  Biobank 
 Animal model
 45  好酸球性多発血管炎性肉芽腫症 
 "Eosinophilic granulomatosis with Polyangiitis", "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "Churg-Strauss syndrome" 
 26 trials 
 4 / 8 / 10 / 3 
 32 drugs 
 [ 20 drugs
 18 genes 
 93 pathways
 
 約1,800人(研究班による)  Biobank 
 Animal model
 46  悪性関節リウマチ 
 "Malignant rheumatoid arthritis", "Rheumatoid arthritis", "Rheumatoid arthritis with vasculitis" 
 1,999 trials 
 268 / 519 / 478 / 287 
 1,752 drugs 
 [ 321 drugs
 172 genes 
 213 pathways
 
 6,255人  Biobank 
 Animal model
 47  バージャー病 
 "Buerger disease", "Thromboangiitis obliterans" 
 8 trials 
 0 / 3 / 0 / 0 
 11 drugs 
 [ 7 drugs
 3 genes 
 13 pathways
 
 7,109人  Biobank 
 Animal model
 48  原発性抗リン脂質抗体症候群 
 "Primary antiphospholipid syndrome", "Primary antiphospholipid antibody syndrome" 
 3 trials 
 0 / 0 / 1 / 0 
 2 drugs 
 [ 1 drug
 -  約10,000人(研究班による)  Biobank 
 Animal model
 49  全身性エリテマトーデス 
 "Systemic lupus erythematosus" 
 429 trials 
 99 / 171 / 79 / 35 
 477 drugs 
 [ 150 drugs
 110 genes 
 185 pathways
 
 60,122人  Biobank 
 Animal model
 50  皮膚筋炎/多発性筋炎 
 "Dermatomyositis", "Polymyositis" 
 84 trials 
 10 / 31 / 21 / 4 
 124 drugs 
 [ 38 drugs
 47 genes 
 139 pathways
 
 約19,500人  Biobank 
 Animal model
 51  全身性強皮症 
 "Systemic scleroderma", "Systemic sclerosis" 
 237 trials 
 36 / 107 / 48 / 14 
 287 drugs 
 [ 98 drugs
 89 genes 
 197 pathways
 
 最新の患者数は不明であるが、約2万人程度と推定される。  Biobank 
 Animal model
 52  混合性結合組織病 
 "Mixed connective tissue disease" 
 3 trials 
 0 / 1 / 1 / 0 
 4 drugs 
 [ 3 drugs
 1 gene 
 1 pathway
 
 11,005人  Biobank 
 Animal model
 53  シェーグレン症候群 
 "Sjogren syndrome", "Sjögren syndrome" 
 130 trials 
 21 / 63 / 15 / 15 
 158 drugs 
 [ 64 drugs
 45 genes 
 170 pathways
 
 約66,300人(研究班による)  Biobank 
 Animal model
 54  成人スチル病 
 "Adult still disease", "Adult-onset Stills disease" 
 2 trials 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 1 gene 
 11 pathways
 
 約4,800人(研究班による)  Biobank 
 Animal model
 55  再発性多発軟骨炎 
 "Relapsing polychondritis" 
 6 trials 
 1 / 2 / 0 / 0 
 7 drugs 
 [ 7 drugs
 10 genes 
 54 pathways
 
 約500人(研究班による)  Biobank 
 Animal model
 56  ベーチェット病 
 "Behcet disease", "Behçet disease" 
 41 trials 
 5 / 15 / 10 / 3 
 63 drugs 
 [ 22 drugs
 33 genes 
 101 pathways
 
 20,035人  Biobank 
 Animal model
 57  特発性拡張型心筋症 
 "Idiopathic dilated cardiomyopathy" 
 12 trials 
 3 / 5 / 1 / 3 
 23 drugs 
 [ 11 drugs
 9 genes 
 31 pathways
 
 27,968人  Biobank 
 Animal model
 58  肥大型心筋症 
 "Hypertrophic cardiomyopathy" 
 55 trials 
 4 / 24 / 11 / 9 
 70 drugs 
 [ 31 drugs
 31 genes 
 137 pathways
 
 4,667人  Biobank 
 Animal model
 59  拘束型心筋症 
 "Restricted cardiomyopathy", "Restrictive cardiomyopathy", "Constrictive cardiomyopathy" 
 -  -  -  50人  Biobank 
 Animal model
 60  再生不良性貧血 
 "Aplastic anemia" 
 184 trials 
 42 / 114 / 21 / 11 
 212 drugs 
 [ 61 drugs
 35 genes 
 136 pathways
 
 10,287人  Biobank 
 Animal model
 61  自己免疫性溶血性貧血 
 "Autoimmune hemolytic anemia", "AIHA", "Cold agglutinin disease", "Paroxysmal cold hemoglobinuria" 
 40 trials 
 3 / 16 / 14 / 3 
 51 drugs 
 [ 22 drugs
 28 genes 
 137 pathways
 
 約2,600人  Biobank 
 Animal model
 62  発作性夜間ヘモグロビン尿症 
 "Paroxysmal nocturnal hemoglobinuria" 
 80 trials 
 8 / 39 / 28 / 2 
 68 drugs 
 [ 26 drugs
 14 genes 
 83 pathways
 
 約400人  Biobank 
 Animal model
 63  特発性血小板減少性紫斑病 
 "Idiopathic thrombocytopenic purpura", "Primary immune thrombocytopenia" 
 127 trials 
 15 / 31 / 54 / 15 
 127 drugs 
 [ 32 drugs
 40 genes 
 112 pathways
 
 24,956人  Biobank 
 Animal model
 64  血栓性血小板減少性紫斑病 
 "Thrombotic thrombocytopenic purpura", "Upshaw-Schulman syndrome" 
 35 trials 
 3 / 16 / 12 / 3 
 55 drugs 
 [ 16 drugs
 13 genes 
 50 pathways
 
 年間約500人発症(推計)  Biobank 
 Animal model
 65  原発性免疫不全症候群 
 "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" 
 273 trials 
 81 / 116 / 79 / 16 
 388 drugs 
 [ 87 drugs
 70 genes 
 189 pathways
 
 1,383人  Biobank 
 Animal model
 66  IgA腎症 
 "IgA nephropathy", "IgA nephritis", "Berger disease", "IgA-IgG nephropathy" 
 125 trials 
 3 / 27 / 30 / 24 
 151 drugs 
 [ 51 drugs
 30 genes 
 111 pathways
 
 約33,000人(研究班による)  Biobank 
 Animal model
 67  多発性嚢胞腎 
 "Polycystic kidney" 
 99 trials 
 7 / 37 / 39 / 6 
 110 drugs 
 [ 42 drugs
 28 genes 
 133 pathways
 
 約31,000人(研究班による)  Biobank 
 Animal model
 68  黄色靱帯骨化症 
 "Ossification of the ligamentum flavum", "Ossification of ligamentum flavum" 
 1 trial 
 0 / 0 / 0 / 0 
 3 drugs 
 [ 3 drugs
 1 gene 
 3 pathways
 
 2,360人  Biobank 
 Animal model
 69  後縦靱帯骨化症 
 "Ossification of posterior longitudinal ligament" 
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 -  33,346人  Biobank 
 Animal model
 70  広範脊柱管狭窄症 
 "Spinal stenosis", "Extensive spinal canal stenosis" 
 69 trials 
 2 / 9 / 5 / 20 
 104 drugs 
 [ 42 drugs
 56 genes 
 80 pathways
 
 5,944人  Biobank 
 Animal model
 71  特発性大腿骨頭壊死症 
 "Idiopathic osteonecrosis of the femoral head", "Idiopathic femoral head necrosis" 
 2 trials 
 0 / 1 / 0 / 0 
 3 drugs 
 [ 3 drugs
 3 genes 
 7 pathways
 
 15,388人  Biobank 
 Animal model
 72  下垂体性ADH分泌異常症 
 "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" 
 23 trials 
 1 / 5 / 10 / 0 
 16 drugs 
 [ 4 drugs
 2 genes 
 4 pathways
 
 [告示番号72-78計]17,069人  Biobank 
 Animal model
 73  下垂体性TSH分泌亢進症 
 "TSH-secreting pituitary adenoma", "Pituitary TSH secretion hyperthyroidism" 
 1 trial 
 0 / 0 / 1 / 0 
 3 drugs 
 [ 2 drugs
 -  [告示番号72-78計]17,069人  Biobank 
 Animal model
 74  下垂体性PRL分泌亢進症 
 "Prolactin secreting pituitary adenoma", "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma" 
 15 trials 
 3 / 5 / 1 / 2 
 25 drugs 
 [ 10 drugs
 16 genes 
 62 pathways
 
 [告示番号72-78計]17,069人  Biobank 
 Animal model
 75  クッシング病 
 "Cushing disease", "Cushing" 
 77 trials 
 6 / 26 / 24 / 5 
 106 drugs 
 [ 41 drugs
 33 genes 
 105 pathways
 
 [告示番号72-78計]17,069人  Biobank 
 Animal model
 76  下垂体性ゴナドトロピン分泌亢進症 
 "Pituitary gonadotropin secretion hyperthyroidism", "Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma" 
 20 trials 
 0 / 0 / 10 / 8 
 32 drugs 
 [ 7 drugs
 2 genes 
 6 pathways
 
 [告示番号72-78計]17,069人  Biobank 
 Animal model
 77  下垂体性成長ホルモン分泌亢進症 
 "Growth hormone secreting pituitary adenoma", "Pituitary growth hormone secretion hyperthyroidism" 
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 2 genes 
 19 pathways
 
 [告示番号72-78計]17,069人  Biobank 
 Animal model
 78  下垂体前葉機能低下症 
 "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", "Prolactin deficiency", "PRL deficiency" 
 244 trials 
 20 / 49 / 58 / 35 
 222 drugs 
 [ 44 drugs
 44 genes 
 78 pathways
 
 [告示番号72-78計]17,069人  Biobank 
 Animal model
 79  家族性高コレステロール血症(ホモ接合体) 
 "Homozygous familial hypercholesterolemia" 
 54 trials 
 3 / 20 / 29 / 1 
 69 drugs 
 [ 24 drugs
 6 genes 
 14 pathways
 
 140人  Biobank 
 Animal model
 80  甲状腺ホルモン不応症 
 "Resistance to thyroid hormone", "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome" 
 -  -  -  約3,000人(研究班による)  Biobank 
 Animal model
 81  先天性副腎皮質酵素欠損症 
 "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", "Aldosterone synthase deficiency", "P450 oxidoreductase deficiency" 
 40 trials 
 9 / 17 / 11 / 1 
 58 drugs 
 [ 21 drugs
 11 genes 
 63 pathways
 
 約1,800人  Biobank 
 Animal model
 82  先天性副腎低形成症 
 "Congenital adrenal hypoplasia", "DAX-1 deficiency", "Steroidogenic factor-1 deficiency", "SF-1 deficiency", "SF-1/Ad4BP deficiency", "IMAGe syndrome" 
 -  -  -  約1,000人  Biobank 
 Animal model
 83  アジソン病 
 "Addison disease", "Primary chronic adrenocortical insufficiency", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", "Schmidt syndrome" 
 17 trials 
 1 / 4 / 2 / 1 
 27 drugs 
 [ 13 drugs
 6 genes 
 17 pathways
 
 約1,000人(研究班による)  Biobank 
 Animal model
 84  サルコイドーシス 
 "Sarcoidosis" 
 106 trials 
 10 / 44 / 18 / 17 
 161 drugs 
 [ 74 drugs
 81 genes 
 138 pathways
 
 26,763人  Biobank 
 Animal model
 85  特発性間質性肺炎 
 "Idiopathic interstitial pneumonia", "Idiopathic pulmonary fibrosis", "Usual interstitial pneumonia", "Non-specific interstitial pneumonia", "NSIP", "Organizing pneumonia", "Desquamative interstitial pneumonia", "Respiratory bronchiolitis - associated interstitial lung disease", "RB-ILD", "Lymphocytic interstitial pneumonia", "Acute interstitial pneumonia", "Diffuse alveolar damage" 
 257 trials 
 46 / 105 / 52 / 13 
 256 drugs 
 [ 93 drugs
 76 genes 
 182 pathways
 
 約 15,000人以上(平成26年度医療受給者証保持者数;8,846人)  Biobank 
 Animal model
 86  肺動脈性肺高血圧症 
 "Pulmonary arterial hypertension", "Eisenmenger Syndrome" 
 505 trials 
 58 / 132 / 141 / 68 
 433 drugs 
 [ 113 drugs
 91 genes 
 178 pathways
 
 2,299人  Biobank 
 Animal model
 87  肺静脈閉塞症/肺毛細血管腫症 
 "Pulmonary veno-occlusive disease", "Pulmonary capillary hemangiomatosis", "PVOD" 
 3 trials 
 1 / 1 / 0 / 0 
 4 drugs 
 [ 3 drugs
 4 genes 
 44 pathways
 
 約100人  Biobank 
 Animal model
 88  慢性血栓塞栓性肺高血圧症 
 "Chronic thromboembolic pulmonary hypertension", "CTEPH", "Idiopathic chronic pulmonary thromboembolism" 
 49 trials 
 2 / 16 / 15 / 1 
 54 drugs 
 [ 23 drugs
 10 genes 
 24 pathways
 
 1,810人  Biobank 
 Animal model
 89  リンパ脈管筋腫症 
 "Lymphangioleiomyomatosis" 
 30 trials 
 8 / 16 / 5 / 1 
 28 drugs 
 [ 17 drugs
 26 genes 
 126 pathways
 
 689人  Biobank 
 Animal model
 90  網膜色素変性症 
 "Retinitis pigmentosa", "Rod dystrophy", "Rod-Cone Dystrophy" 
 78 trials 
 37 / 44 / 10 / 0 
 104 drugs 
 [ 36 drugs
 50 genes 
 112 pathways
 
 27,158人  Biobank 
 Animal model
 91  バッド・キアリ症候群 
 "Budd-Chiari syndrome" 
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 1 gene 
 7 pathways
 
 293人  Biobank 
 Animal model
 92  特発性門脈圧亢進症 
 "Idiopathic portal hypertension", "Banti syndrome" 
 -  -  -  約1,000人  Biobank 
 Animal model
 93  原発性胆汁性胆管炎 
 "Primary biliary cholangitis", "Primary biliary cirrhosis" 
 114 trials 
 14 / 53 / 24 / 9 
 136 drugs 
 [ 42 drugs
 27 genes 
 78 pathways
 
 19,701人  Biobank 
 Animal model
 94  原発性硬化性胆管炎 
 "Primary sclerosing cholangitis" 
 68 trials 
 21 / 32 / 10 / 1 
 72 drugs 
 [ 31 drugs
 17 genes 
 121 pathways
 
 約400人  Biobank 
 Animal model
 95  自己免疫性肝炎 
 "Autoimmune hepatitis" 
 27 trials 
 4 / 10 / 3 / 7 
 40 drugs 
 [ 23 drugs
 16 genes 
 100 pathways
 
 約10,000人  Biobank 
 Animal model
 96  クローン病 
 "Crohn disease", "Terminal ileitis" 
 890 trials 
 117 / 270 / 234 / 116 
 832 drugs 
 [ 211 drugs
 161 genes 
 201 pathways
 
 36,418人  Biobank 
 Animal model
 97  潰瘍性大腸炎 
 "Ulcerative colitis" 
 820 trials 
 107 / 277 / 234 / 80 
 887 drugs 
 [ 195 drugs
 108 genes 
 166 pathways
 
 143,733人  Biobank 
 Animal model
 98  好酸球性消化管疾患 
 "Eosinophilic gastrointestinal disease", "Eosinophilic gastroenteritis", "Eosinophilic esophagitis", "Eosinophilic colitis", "Eosinophilic gastro-intestinal disorder", "EGID", "Neonatal food-protein induced enterocolitis", "N-FPIES" 
 78 trials 
 10 / 39 / 17 / 5 
 85 drugs 
 [ 33 drugs
 31 genes 
 123 pathways
 
 約5,000人(研究班による)  Biobank 
 Animal model
 99  慢性特発性偽性腸閉塞症 
 "Chronic intestinal pseudo-obstruction", "Chronic idiopathic pseudo-bowel obstruction" 
 2 trials 
 0 / 2 / 0 / 0 
 6 drugs 
 [ 1 drug
 -  小児例100人、成人例1,300人  Biobank 
 Animal model
 100  巨大膀胱短小結腸腸管蠕動不全症 
 "Megacystis microcolon intestinal hypoperistalsis syndrome", "Huge bladder short and small colon intestinal peristalsis deficiency" 
 -  -  -  100人未満(研究班による)  Biobank 
 Animal model
 101  腸管神経節細胞僅少症 
 "Congenital isolated hypoganglionosis", "Intestinal ganglion cells insignificant disease" 
 -  -  -  約100人(研究班による)  Biobank 
 Animal model
 102  ルビンシュタイン・テイビ症候群 
 "Rubinstein-Taybi syndrome", "RSTS" 
 3 trials 
 0 / 2 / 0 / 1 
 4 drugs 
 [ 1 drug
 7 genes 
 17 pathways
 
 約200人(研究班による)  Biobank 
 Animal model
 103  CFC症候群 
 "Cardio-facio-cutaneous syndrome", "CFC syndrome" 
 -  -  -  約200人(研究班による。)  Biobank 
 Animal model
 104  コステロ症候群 
 "Costello syndrome" 
 -  -  -  約100人(研究班による)  Biobank 
 Animal model
 105  チャージ症候群 
 "CHARGE syndrome" 
 -  -  -  約5,000人(研究班による。)  Biobank 
 Animal model
 106  クリオピリン関連周期熱症候群 
 "Cryopyrin-associated periodic syndrome", "Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Mucke-Wells syndrome", "Chronic infantile neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID" 
 15 trials 
 3 / 3 / 6 / 0 
 13 drugs 
 [ 4 drugs
 4 genes 
 44 pathways
 
 約100人(研究班による)  Biobank 
 Animal model
 107  若年性特発性関節炎 
 "Systemic juvenile idiopathic arthritis", "Systemic-onset juvenile idiopathic arthritis" 
 45 trials 
 6 / 11 / 14 / 5 
 39 drugs 
 [ 10 drugs
 13 genes 
 80 pathways
 
 約8,000人  Biobank 
 Animal model
 108  TNF受容体関連周期性症候群 
 "TNF receptor-associated periodic syndrome" 
 2 trials 
 0 / 0 / 1 / 0 
 4 drugs 
 [ 1 drug
 1 gene 
 40 pathways
 
 100人未満(研究班による)  Biobank 
 Animal model
 109  非典型溶血性尿毒症症候群 
 "Atypical hemolytic uremic syndrome" 
 23 trials 
 0 / 15 / 6 / 1 
 17 drugs 
 [ 3 drugs
 1 gene 
 7 pathways
 
 200人未満(研究班による)  Biobank 
 Animal model
 110  ブラウ症候群 
 "Blau syndrome", "Early-onset sarcoidosis", "Systemic granulomatous diseases" 
 -  -  -  100人未満(研究班による)  Biobank 
 Animal model
 111  先天性ミオパチー 
 "Congenital myopathy", "Nemaline myopathy", "Central core disease", "Minicore myopathy", "Myotubular myopathy", "Centronuclear myopathy", "Congenital fiber-type disproportion myopathy" 
 5 trials 
 4 / 5 / 0 / 0 
 7 drugs 
 [ 2 drugs
 -  約1,000人  Biobank 
 Animal model
 112  マリネスコ・シェーグレン症候群 
 "Marinesco-Sjogren syndrome", "Hereditary cerebellar ataxia-childhood cataracts" 
 -  -  -  100人未満  Biobank 
 Animal model
 113  筋ジストロフィー 
 "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" 
 289 trials 
 94 / 148 / 68 / 6 
 306 drugs 
 [ 83 drugs
 57 genes 
 156 pathways
 
 約25,400人  Biobank 
 Animal model
 114  非ジストロフィー性ミオトニー症候群 
 "Non-dystrophic myotonia syndrome", "Non-dystrophic Myotonia", "Myotonia congenita", "Paramyotonia congenita", "Thomsen disease", "Becker disease", "Sodium channel myotonia" 
 6 trials 
 1 / 1 / 3 / 0 
 5 drugs 
 [ 4 drugs
 18 genes 
 10 pathways
 
 約1,000人  Biobank 
 Animal model
 115  遺伝性周期性四肢麻痺 
 "Hereditary periodic paralysis", "Hereditary Hypokalemic Periodic Paralysis", "Hereditary Hyperkalemic Periodic Paralysis", "Andersen-Tawil syndrome" 
 1 trial 
 1 / 0 / 0 / 0 
 2 drugs 
 [ 2 drugs
 13 genes 
 7 pathways
 
 約1,000人  Biobank 
 Animal model
 116  アトピー性脊髄炎 
 "Atopic myelitis", "Idiopathic eosinophilic myelitis" 
 -  -  -  約1,000人  Biobank 
 Animal model
 117  脊髄空洞症 
 "Syringomyelia" 
 2 trials 
 0 / 2 / 0 / 0 
 4 drugs 
 [ - ] 
 -  約3,000人  Biobank 
 Animal model
 118  脊髄髄膜瘤 
 "Myelomeningocele", "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele" 
 1 trial 
 0 / 0 / 0 / 1 
 1 drug 
 [ - ] 
 -  分娩10,000件あたり5.0〜6.0件の発生率。年間500〜600名の患児が出生している。  Biobank 
 Animal model
 119  アイザックス症候群 
 "Isaacs syndrome", "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis" 
 -  -  -  約100人  Biobank 
 Animal model
 120  遺伝性ジストニア 
 "Hereditary dystonia", "DYT1 dystonia", "DYT2 dystonia", "DYT3 dystonia", "X-linked dystonia-parkinsonism", "Lubag", "DYT4 dystonia", "DYT5 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", "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" 
 15 trials 
 2 / 4 / 7 / 1 
 17 drugs 
 [ 6 drugs
 2 genes 
 2 pathways
 
 約500人  Biobank 
 Animal model
 121  神経フェリチン症 
 "Neuroferritinopathy" 
 -  -  -  100人未満  Biobank 
 Animal model
 122  脳表ヘモジデリン沈着症 
 "Superficial siderosis", "Brain table hemosiderosis" 
 2 trials 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 -  100人未満  Biobank 
 Animal model
 123  禿頭と変形性脊椎症を伴う常染色体劣性白質脳症 
 "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy", "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis", "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis", "Cerebral autosomal recessive arteriopathy", "Autosomal recessive leukoencephalopathy" 
 -  -  -  100人未満  Biobank 
 Animal model
 124  皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症 
 "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy", "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease" 
 2 trials 
 0 / 1 / 0 / 0 
 7 drugs 
 [ 2 drugs
 1 gene 
 2 pathways
 
 約200人  Biobank 
 Animal model
 125  神経軸索スフェロイド形成を伴う遺伝性びまん性白質脳症 
 "Hereditary diffuse leukoencephalopathy with spheroid", "Hereditary diffuse leukoencephalopathy" 
 -  -  -  100人未満  Biobank 
 Animal model
 126  ペリー症候群 
 "Perry syndrome" 
 -  -  -  100人未満  Biobank 
 Animal model
 127  前頭側頭葉変性症 
 "Frontotemporal lobar degeneration", "Frontotemporal dementia", "Semantic dementia" 
 44 trials 
 7 / 14 / 5 / 5 
 54 drugs 
 [ 21 drugs
 24 genes 
 46 pathways
 
 約12,000人  Biobank 
 Animal model
 128  ビッカースタッフ脳幹脳炎 
 "Bickerstaff brainstem encephalitis" 
 -  -  -  発症者は約100人/年  Biobank 
 Animal model
 129  痙攣重積型(二相性)急性脳症 
 "Acute encephalopathy with biphasic seizures and late reduced diffusion", "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy" 
 -  -  -  約2,000〜7,800人 (罹病率:1年あたり100〜200人)  Biobank 
 Animal model
 130  先天性無痛無汗症 
 "Congenital insensitivity to pain with anhydrosis", "CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5" 
 1 trial 
 1 / 0 / 0 / 0 
 9 drugs 
 [ 7 drugs
 4 genes 
 34 pathways
 
 約200〜300人  Biobank 
 Animal model
 131  アレキサンダー病 
 "Alexander disease" 
 -  -  -  100人未満  Biobank 
 Animal model
 132  先天性核上性球麻痺 
 "Congenital supranuclear bulbar palsy", "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome" 
 -  -  -  約100人  Biobank 
 Animal model
 133  メビウス症候群 
 "Moebius syndrome", "Mobius syndrome" 
 -  -  -  約1,000人  Biobank 
 Animal model
 134  中隔視神経形成異常症/ドモルシア症候群 
 "Septo-optic dysplasia", "De Morsier syndrome" 
 1 trial 
 0 / 0 / 0 / 1 
 1 drug 
 [ - ] 
 -  約500人  Biobank 
 Animal model
 135  アイカルディ症候群 
 "Aicardi syndrome" 
 1 trial 
 0 / 1 / 0 / 0 
 9 drugs 
 [ 3 drugs
 -  100人未満  Biobank 
 Animal model
 136  片側巨脳症 
 "Hemimegalencephaly", "Unilateral megalencephaly" 
 -  -  -  100人未満  Biobank 
 Animal model
 137  限局性皮質異形成 
 "Focal cortical dysplasia" 
 6 trials 
 0 / 4 / 0 / 0 
 4 drugs 
 [ 2 drugs
 1 gene 
 43 pathways
 
 数千人程度  Biobank 
 Animal model
 138  神経細胞移動異常症 
 "Nerve cell migration disorder", "Lissencephaly", "Neuronal migration defect", "Ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "Porencephaly", "Miller-Dieker syndrome" 
 -  -  -  約1,000人  Biobank 
 Animal model
 139  先天性大脳白質形成不全症 
 "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" 
 5 trials 
 2 / 2 / 0 / 0 
 4 drugs 
 [ 1 drug
 -  約200人  Biobank 
 Animal model
 140  ドラベ症候群 
 "Dorabe syndrome", "Dravet syndrome" 
 34 trials 
 5 / 10 / 16 / 1 
 27 drugs 
 [ 8 drugs
 42 genes 
 53 pathways
 
 約3,000人  Biobank 
 Animal model
 141  海馬硬化を伴う内側側頭葉てんかん 
 "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" 
 -  -  -  約5,000人  Biobank 
 Animal model
 142  ミオクロニー欠神てんかん 
 "Myoclonic absence epilepsy" 
 -  -  -  100人未満  Biobank 
 Animal model
 143  ミオクロニー脱力発作を伴うてんかん 
 "Epilepsy with myoclonic-atonic seizure", "Epilepsy with myoclonic cataplexy" 
 -  -  -  100人未満  Biobank 
 Animal model
 144  レノックス・ガストー症候群 
 "Lennox-Gastaut syndrome" 
 41 trials 
 4 / 7 / 24 / 2 
 43 drugs 
 [ 10 drugs
 49 genes 
 55 pathways
 
 [告示番号144-148計]約4,300人  Biobank 
 Animal model
 145  ウエスト症候群 
 "West syndrome", "Infantile spasm" 
 27 trials 
 0 / 7 / 10 / 6 
 40 drugs 
 [ 12 drugs
 21 genes 
 19 pathways
 
 [告示番号144-148計]約4,300人  Biobank 
 Animal model
 146  大田原症候群 
 "Ohtahara syndrome", "Early infantile epileptic encephalopathy with suppression burst" 
 -  -  -  [告示番号144-148計]約4,300人  Biobank 
 Animal model
 147  早期ミオクロニー脳症 
 "Early myoclonic encephalopathy" 
 -  -  -  [告示番号144-148計]約4,300人  Biobank 
 Animal model
 148  遊走性焦点発作を伴う乳児てんかん 
 "Epilepsy of infancy with migrating focal seizure", "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy" 
 -  -  -  [告示番号144-148計]約4,300人  Biobank 
 Animal model
 149  片側痙攣・片麻痺・てんかん症候群 
 "Hemiconvulsion hemiplegia epilepsy syndrome", "One side convulsions", "Hemiplegia", "Epilepsy syndrome" 
 16 trials 
 2 / 4 / 6 / 1 
 22 drugs 
 [ 10 drugs
 6 genes 
 10 pathways
 
 100人未満  Biobank 
 Animal model
 150  環状20番染色体症候群 
 "Ring chromosome 20 epilepsy syndrome", "Ring chromosome 20 syndrome" 
 -  -  -  100人未満  Biobank 
 Animal model
 151  ラスムッセン脳炎 
 "Rasmussen encephalitis" 
 2 trials 
 0 / 1 / 1 / 0 
 3 drugs 
 [ 2 drugs
 6 genes 
 80 pathways
 
 100人未満  Biobank 
 Animal model
 152  PCDH19関連症候群 
 "PCDH19 related syndrome", "PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19-related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy" 
 3 trials 
 0 / 1 / 1 / 0 
 5 drugs 
 [ 1 drug
 16 genes 
 7 pathways
 
 100人未満  Biobank 
 Animal model
 153  難治頻回部分発作重積型急性脳炎 
 "Acute encephalitis with refractory, 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" 
 -  -  -  約100人  Biobank 
 Animal model
 154  徐波睡眠期持続性棘徐波を示すてんかん性脳症 
 "Epilepsy with continuous spikes and waves during slow sleep", "Epileptic encephalopathy with continuous spike-and-wave during sleep" 
 -  -  -  [告示番号154-155計]約400人(徐波睡眠期持続性棘徐波を示すてんかん性脳症及びランドウ・クレフナー症候群の総数)  Biobank 
 Animal model
 155  ランドウ・クレフナー症候群 
 "Acquired aphasia with convulsive disorder", "Landau-Kleffner syndrome" 
 1 trial 
 0 / 1 / 1 / 0 
 2 drugs 
 [ 2 drugs
 29 genes 
 14 pathways
 
 [告示番号154-155計]約400人(徐波睡眠期持続性棘徐波を示すてんかん性脳症及びランドウ・クレフナー症候群の総数)  Biobank 
 Animal model
 156  レット症候群 
 "Rett syndrome" 
 27 trials 
 3 / 19 / 4 / 0 
 34 drugs 
 [ 16 drugs
 69 genes 
 105 pathways
 
 約1,000人  Biobank 
 Animal model
 157  スタージ・ウェーバー症候群 
 "Sturge-Weber syndrome", "Síndrome de Sturge-Weber" 
 6 trials 
 3 / 3 / 1 / 0 
 9 drugs 
 [ 4 drugs
 5 genes 
 55 pathways
 
 約1,000人  Biobank 
 Animal model
 158  結節性硬化症 
 "Tuberous sclerosis", "Tuberous sclerosis complex" 
 54 trials 
 8 / 28 / 18 / 5 
 37 drugs 
 [ 14 drugs
 19 genes 
 106 pathways
 
 約4,000〜12,000人  Biobank 
 Animal model
 159  色素性乾皮症 
 "Xeroderma pigmentosum" 
 4 trials 
 0 / 1 / 1 / 0 
 8 drugs 
 [ 2 drugs
 2 genes 
 8 pathways
 
 約300〜600人  Biobank 
 Animal model
 160  先天性魚鱗癬 
 "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" 
 21 trials 
 4 / 9 / 3 / 1 
 31 drugs 
 [ 10 drugs
 12 genes 
 96 pathways
 
 約200人  Biobank 
 Animal model
 161  家族性良性慢性天疱瘡 
 "Familial benign chronic pemphigus", "Benign familial pemphigus", "Hailey-Hailey disease" 
 4 trials 
 2 / 2 / 0 / 0 
 7 drugs 
 [ 1 drug
 1 gene 
 20 pathways
 
 約300人  Biobank 
 Animal model
 162  類天疱瘡(後天性表皮水疱症を含む。) 
 "Pemphigoid", "Epidermolysis bullosa acquisita" 
 49 trials 
 9 / 18 / 6 / 4 
 72 drugs 
 [ 35 drugs
 23 genes 
 118 pathways
 
 約7,100人(類天疱瘡:約6,850人、後天性表皮水疱症:約250人)  Biobank 
 Animal model
 163  特発性後天性全身性無汗症 
 "Idiopathic pure sudomotor failure", "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure" 
 -  -  -  約100人〜200人  Biobank 
 Animal model
 164  眼皮膚白皮症 
 "Oculocutaneous albinism", "Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Griscelli syndrome" 
 14 trials 
 3 / 8 / 1 / 0 
 54 drugs 
 [ 36 drugs
 34 genes 
 132 pathways
 
 約5,000人 (2,800〜11,200人)  Biobank 
 Animal model
 165  肥厚性皮膚骨膜症 
 "Pachydermoperiostosis" 
 -  -  -  100人未満  Biobank 
 Animal model
 166  弾性線維性仮性黄色腫 
 "Pseudoxanthoma elasticum" 
 9 trials 
 1 / 7 / 2 / 0 
 17 drugs 
 [ 5 drugs
 5 genes 
 25 pathways
 
 約300人  Biobank 
 Animal model
 167  マルファン症候群 
 "Marfan syndrome" 
 14 trials 
 0 / 2 / 7 / 0 
 28 drugs 
 [ 10 drugs
 10 genes 
 45 pathways
 
 約15,000〜20,000人  Biobank 
 Animal model
 168  エーラス・ダンロス症候群 
 "Ehlers-Danlos syndrome" 
 7 trials 
 0 / 1 / 2 / 1 
 14 drugs 
 [ 10 drugs
 17 genes 
 53 pathways
 
 約20,000人  Biobank 
 Animal model
 169  メンケス病 
 "Menkes disease" 
 5 trials 
 1 / 1 / 1 / 1 
 5 drugs 
 [ 4 drugs
 -  100人未満  Biobank 
 Animal model
 170  オクシピタル・ホーン症候群 
 "Occipital horn syndrome" 
 1 trial 
 0 / 0 / 1 / 0 
 3 drugs 
 [ 3 drugs
 -  100人未満  Biobank 
 Animal model
 171  ウィルソン病 
 "Wilson disease" 
 25 trials 
 2 / 4 / 11 / 3 
 29 drugs 
 [ 15 drugs
 -  約3,000人  Biobank 
 Animal model
 172  低ホスファターゼ症 
 "Hypophosphatasia" 
 22 trials 
 4 / 15 / 2 / 2 
 12 drugs 
 [ 5 drugs
 3 genes 
 5 pathways
 
 約100〜200人  Biobank 
 Animal model
 173  VATER症候群 
 "VATER syndrome", "VATER association", "VACTERL association" 
 -  -  -  約500名  Biobank 
 Animal model
 174  那須・ハコラ病 
 "Nasu-Hakola disease", "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL" 
 -  -  -  約200人  Biobank 
 Animal model
 175  ウィーバー症候群 
 "Weaver syndrome" 
 -  -  -  100人未満  Biobank 
 Animal model
 176  コフィン・ローリー症候群 
 "Coffin-Lowry syndrome" 
 -  -  -  数万人に1人  Biobank 
 Animal model
 177  ジュベール症候群関連疾患 
 "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 
 [ - ] 
 -  100人未満  Biobank 
 Animal model
 178  モワット・ウィルソン症候群 
 "Mowat-Wilson syndrome" 
 -  -  -  約1,000人  Biobank 
 Animal model
 179  ウィリアムズ症候群 
 "Williams syndrome" 
 4 trials 
 0 / 0 / 0 / 1 
 12 drugs 
 [ 7 drugs
 8 genes 
 29 pathways
 
 発生頻度は2万人に1人  Biobank 
 Animal model
 180  ATR-X症候群 
 "ATR-X syndrome", "Alpha-thalassemia mental retardation syndrome" 
 -  -  -  100人未満  Biobank 
 Animal model
 181  クルーゾン症候群 
 "Crouzon syndrome" 
 -  -  -  [告示番号181-184計]約900人(クルーゾン症候群、アペール症候群、ファイファー症候群、アントレー・ビクスラー症候群の合計)  Biobank 
 Animal model
 182  アペール症候群 
 "Apert syndrome" 
 -  -  -  [告示番号181-184計]約900人(クルーゾン症候群、アペール症候群、ファイファー症候群、アントレー・ビクスラー症候群の合計)  Biobank 
 Animal model
 183  ファイファー症候群 
 "Pfeiffer syndrome" 
 -  -  -  [告示番号181-184計]約900人(クルーゾン症候群、アペール症候群、ファイファー症候群、アントレー・ビクスラー症候群の合計)  Biobank 
 Animal model
 184  アントレー・ビクスラー症候群 
 "Antley-Bixler syndrome" 
 -  -  -  [告示番号181-184計]約900人(クルーゾン症候群、アペール症候群、ファイファー症候群、アントレー・ビクスラー症候群の合計)  Biobank 
 Animal model
 185  コフィン・シリス症候群 
 "Coffin-Siris syndrome" 
 -  -  -  100人未満  Biobank 
 Animal model
 186  ロスムンド・トムソン症候群 
 "Rothmund-Thomson syndrome", "RAPADILINO syndrome", "Baller-Gerold syndrome" 
 -  -  -  100人未満  Biobank 
 Animal model
 187  歌舞伎症候群 
 "Kabuki syndrome" 
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 2 genes 
 11 pathways
 
 約3,000〜4,000人  Biobank 
 Animal model
 188  多脾症候群 
 "Polysplenia syndrome" 
 -  -  -  [告示番号188-189計]約2,000人(無脾症候群及び多脾症候群の合計。)  Biobank 
 Animal model
 189  無脾症候群 
 "Asplenia syndrome" 
 -  -  -  [告示番号188-189計]約2,000人(無脾症候群及び多脾症候群の合計。)  Biobank 
 Animal model
 190  鰓耳腎症候群 
 "Branchio-oto-renal syndrome", "BOR syndrome" 
 -  -  -  約300人  Biobank 
 Animal model
 191  ウェルナー症候群 
 "Werner syndrome" 
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 1 gene 
 5 pathways
 
 約2,000人  Biobank 
 Animal model
 192  コケイン症候群 
 "Cockayne syndrome" 
 4 trials 
 1 / 3 / 0 / 0 
 7 drugs 
 [ 3 drugs
 1 gene 
 43 pathways
 
 100人未満  Biobank 
 Animal model
 193  プラダー・ウィリ症候群 
 "Prader-Willi syndrome" 
 72 trials 
 6 / 25 / 23 / 8 
 77 drugs 
 [ 26 drugs
 49 genes 
 59 pathways
 
 約 1,000人  Biobank 
 Animal model
 194  ソトス症候群 
 "Sotos syndrome" 
 -  -  -  約2,500人  Biobank 
 Animal model
 195  ヌーナン症候群 
 "Noonan syndrome" 
 10 trials 
 0 / 2 / 5 / 0 
 11 drugs 
 [ 4 drugs
 2 genes 
 9 pathways
 
 約600人  Biobank 
 Animal model
 196  ヤング・シンプソン症候群 
 "Young-Simpson syndrome" 
 -  -  -  約100人  Biobank 
 Animal model
 197  1p36欠失症候群 
 "1p36 deletion syndrome" 
 -  -  -  約100人  Biobank 
 Animal model
 198  4p欠失症候群 
 "4p deletion syndrome", "4p-syndrome" 
 -  -  -  約1,000人以下  Biobank 
 Animal model
 199  5p欠失症候群 
 "5p deletion syndrome", "5p-syndrome" 
 -  -  -  約1,000人以下(5万出生に1人、おそらく1,000人以下と推定される。)  Biobank 
 Animal model
 200  第14番染色体父親性ダイソミー症候群 
 "Paternal uniparental disomy of chromosome 14", "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome" 
 -  -  -  100人未満  Biobank 
 Animal model
 201  アンジェルマン症候群 
 "Angelman syndrome" 
 12 trials 
 2 / 4 / 2 / 0 
 15 drugs 
 [ 7 drugs
 22 genes 
 20 pathways
 
 500〜1,000人程度  Biobank 
 Animal model
 202  スミス・マギニス症候群 
 "Smith-Magenis syndrome" 
 6 trials 
 2 / 2 / 2 / 0 
 6 drugs 
 [ 3 drugs
 2 genes 
 2 pathways
 
 100人未満  Biobank 
 Animal model
 203  22q11.2欠失症候群 
 "22q11.2 deletion syndrome" 
 1 trial 
 1 / 0 / 0 / 0 
 1 drug 
 [ - ] 
 -  約4,500人  Biobank 
 Animal model
 204  エマヌエル症候群 
 "Emanuel syndrome", "Derivative 22 syndrome" 
 -  -  -  100人未満  Biobank 
 Animal model
 205  脆弱X症候群関連疾患 
 "Fragile X syndrome related disease", "Fragile X-associated tremor/ataxia syndrome", "FXTAS" 
 3 trials 
 0 / 2 / 0 / 0 
 3 drugs 
 [ 2 drugs
 21 genes 
 22 pathways
 
 [告示番号205-206計]100人未満  Biobank 
 Animal model
 206  脆弱X症候群 
 "Fragile X syndrome" 
 58 trials 
 9 / 32 / 10 / 3 
 58 drugs 
 [ 25 drugs
 44 genes 
 54 pathways
 
 [告示番号205-206計]100人未満  Biobank 
 Animal model
 207  総動脈幹遺残症 
 "Persistent truncus arteriosus" 
 -  -  -  約500人  Biobank 
 Animal model
 208  修正大血管転位症 
 "Corrected transposition of great arteries" 
 -  -  -  [告示番号208-209計]約900人(修正大血管転位症及び完全大血管転位症の合計。)  Biobank 
 Animal model
 209  完全大血管転位症 
 "Complete transposition of great vessel", "Complete transposition of great arteries" 
 -  -  -  [告示番号208-209計]約900人(修正大血管転位症及び完全大血管転位症の合計。)  Biobank 
 Animal model
 210  単心室症 
 "Single ventricle heart defect", "Complete TGA", "Univentricular heart", "Single ventricular circulation syndrome" 
 6 trials 
 0 / 1 / 3 / 0 
 7 drugs 
 [ 3 drugs
 3 genes 
 11 pathways
 
 [告示番号210-213計]約3,500人(単心室循環症候群の総数。)  Biobank 
 Animal model
 211  左心低形成症候群 
 "Hypoplastic left heart syndrome", "Single ventricular circulation syndrome" 
 16 trials 
 9 / 7 / 0 / 0 
 16 drugs 
 [ 7 drugs
 4 genes 
 13 pathways
 
 [告示番号210-213計]約3,500人(単心室循環症候群の総数。)  Biobank 
 Animal model
 212  三尖弁閉鎖症 
 "Tricuspid atresia", "Single ventricular circulation syndrome" 
 4 trials 
 2 / 1 / 0 / 0 
 5 drugs 
 [ 5 drugs
 6 genes 
 5 pathways
 
 [告示番号210-213計]約3,500人(単心室循環症候群の総数。)  Biobank 
 Animal model
 213  心室中隔欠損を伴わない肺動脈閉鎖症 
 "Pulmonary atresia without ventricular septum defect", "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia", "Single ventricular circulation syndrome" 
 -  -  -  [告示番号210-213計]約3,500人(単心室循環症候群の総数。)  Biobank 
 Animal model
 214  心室中隔欠損を伴う肺動脈閉鎖症 
 "Pulmonary atresia with ventricular septum defect", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia", "Tetralogy of Fallot with severe pulmonary stenosis" 
 2 trials 
 0 / 0 / 0 / 0 
 4 drugs 
 [ 4 drugs
 -  [告示番号214-216計]約5,500人(ファロー四徴症類縁疾患の総数。)  Biobank 
 Animal model
 215  ファロー四徴症 
 "Tetralogy of Fallot", "Fallot tetralogy" 
 14 trials 
 2 / 3 / 1 / 1 
 16 drugs 
 [ 13 drugs
 13 genes 
 39 pathways
 
 [告示番号214-216計]約5,500人(ファロー四徴症類縁疾患の総数。)  Biobank 
 Animal model
 216  両大血管右室起始症 
 "Double outlet right ventricle" 
 -  -  -  [告示番号214-216計]約5,500人(ファロー四徴症類縁疾患の総数。)  Biobank 
 Animal model
 217  エプスタイン病 
 "Ebstein disease", "Ebstein malformation" 
 -  -  -  約300人  Biobank 
 Animal model
 218  アルポート症候群 
 "Alport syndrome" 
 8 trials 
 1 / 3 / 3 / 0 
 15 drugs 
 [ 8 drugs
 5 genes 
 25 pathways
 
 約1,200人  Biobank 
 Animal model
 219  ギャロウェイ・モワト症候群 
 "Galloway-Mowat syndrome" 
 -  -  -  約200人  Biobank 
 Animal model
 220  急速進行性糸球体腎炎 
 "Rapidly progressive glomerulonephritis" 
 2 trials 
 0 / 1 / 2 / 0 
 4 drugs 
 [ 2 drugs
 1 gene 
 1 pathway
 
 総患者数約3,800〜5,800人と推計されている。  Biobank 
 Animal model
 221  抗糸球体基底膜腎炎 
 "Anti-glomerular basement membrane disease" 
 1 trial 
 0 / 1 / 0 / 0 
 1 drug 
 [ 1 drug
 -  約200〜400人  Biobank 
 Animal model
 222  一次性ネフローゼ症候群 
 "Primary nephrotic syndrome", "Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Membranoproliferative glomerulonephritis", "MPGN" 
 152 trials 
 18 / 50 / 24 / 15 
 167 drugs 
 [ 61 drugs
 50 genes 
 174 pathways
 
 約16,000人  Biobank 
 Animal model
 223  一次性膜性増殖性糸球体腎炎 
 "Primary membranoproliferative glomerulonephritis", "Dense deposit disease" 
 13 trials 
 4 / 8 / 1 / 0 
 12 drugs 
 [ 5 drugs
 10 genes 
 38 pathways
 
 約1,000人  Biobank 
 Animal model
 224  紫斑病性腎炎 
 "Purpura nephritis" 
 7 trials 
 1 / 3 / 0 / 1 
 31 drugs 
 [ 17 drugs
 15 genes 
 51 pathways
 
 400例〜640例/年  Biobank 
 Animal model
 225  先天性腎性尿崩症 
 "Congenital nephrogenic diabetes insipidus", "Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus" 
 11 trials 
 2 / 3 / 0 / 0 
 35 drugs 
 [ 15 drugs
 30 genes 
 61 pathways
 
 約200人  Biobank 
 Animal model
 226  間質性膀胱炎(ハンナ型) 
 "Interstitial cystitis with Hunners ulcer", "Interstitial cystitis" 
 83 trials 
 8 / 35 / 12 / 8 
 122 drugs 
 [ 44 drugs
 54 genes 
 134 pathways
 
 約2,000人  Biobank 
 Animal model
 227  オスラー病 
 "Osler disease", "Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease" 
 38 trials 
 7 / 23 / 6 / 2 
 44 drugs 
 [ 18 drugs
 12 genes 
 106 pathways
 
 約10,000人  Biobank 
 Animal model
 228  閉塞性細気管支炎 
 "Bronchiolitis obliterans", "Obliterating bronchiolitis" 
 57 trials 
 8 / 24 / 14 / 6 
 78 drugs 
 [ 34 drugs
 33 genes 
 145 pathways
 
 約300〜500人  Biobank 
 Animal model
 229  肺胞蛋白症(自己免疫性又は先天性) 
 "Autoimmune pulmonary alveolar proteinosis", "Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis" 
 20 trials 
 6 / 12 / 5 / 0 
 15 drugs 
 [ 7 drugs
 3 genes 
 12 pathways
 
 約900人(自己免疫性PAP及び先天性PAP)  Biobank 
 Animal model
 230  肺胞低換気症候群 
 "Alveolar hypoventilation syndrome", "Hypoventilation syndrome" 
 5 trials 
 0 / 1 / 2 / 0 
 5 drugs 
 [ 3 drugs
 16 genes 
 25 pathways
 
 約3,000人  Biobank 
 Animal model
 231  α1-アンチトリプシン欠乏症 
 "Alpha-1-antitrypsin deficiency", "AATD" 
 38 trials 
 9 / 21 / 11 / 1 
 56 drugs 
 [ 17 drugs
 43 genes 
 49 pathways
 
 100人未満  Biobank 
 Animal model
 232  カーニー複合 
 "Carney complex" 
 1 trial 
 0 / 1 / 0 / 0 
 1 drug 
 [ 1 drug
 1 gene 
 29 pathways
 
 100人未満  Biobank 
 Animal model
 233  ウォルフラム症候群 
 "Wolfram syndrome", "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome" 
 4 trials 
 1 / 3 / 1 / 0 
 10 drugs 
 [ 7 drugs
 11 genes 
 40 pathways
 
 約200人  Biobank 
 Animal model
 234  ペルオキシソーム病(副腎白質ジストロフィーを除く。) 
 "Peroxisomal disease (except Adrenoleukodystrophy)", "Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "Zellweger syndrome", "PEX gene disorder", "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", "Acatalasemia", "Acatalasia", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS" 
 17 trials 
 3 / 7 / 5 / 0 
 28 drugs 
 [ 11 drugs
 11 genes 
 37 pathways
 
 100人未満  Biobank 
 Animal model
 235  副甲状腺機能低下症 
 "Hypoparathyroidism", "Accessory thyroid hypergasia disease" 
 44 trials 
 7 / 7 / 14 / 9 
 59 drugs 
 [ 18 drugs
 4 genes 
 5 pathways
 
 約900人  Biobank 
 Animal model
 236  偽性副甲状腺機能低下症 
 "Pseudohypoparathyroidism" 
 4 trials 
 0 / 2 / 0 / 1 
 3 drugs 
 [ 2 drugs
 20 genes 
 28 pathways
 
 約400人  Biobank 
 Animal model
 237  副腎皮質刺激ホルモン不応症 
 "ACTH unresponsiveness", "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome" 
 -  -  -  100人未満  Biobank 
 Animal model
 238  ビタミンD抵抗性くる病/骨軟化症 
 "Vitamin D-resistant rickets", "Vitamin D-resistant osteomalacia", "VDRR", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia" 
 1 trial 
 0 / 0 / 1 / 0 
 1 drug 
 [ - ] 
 -  厚生労働省ホルモン受容機構異常に関する研究班の全国調査から、本邦での年間発症症例数117例(95% CI 75-160)と推定されている。  Biobank 
 Animal model
 239  ビタミンD依存性くる病/骨軟化症 
 "Vitamin D-dependent rickets", "Vitamin D-dependent osteomalacia", "VDDR" 
 -  -  -  100人未満  Biobank 
 Animal model
 240  フェニルケトン尿症 
 "Phenylketonuria", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia" 
 78 trials 
 12 / 15 / 17 / 10 
 53 drugs 
 [ 8 drugs
 -  約500人  Biobank 
 Animal model
 241  高チロシン血症1型 
 "Hypertyrosinemia type I", "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I" 
 11 trials 
 5 / 1 / 1 / 0 
 6 drugs 
 [ 1 drug
 1 gene 
 4 pathways
 
 [告示番号241-243計]100人未満  Biobank 
 Animal model
 242  高チロシン血症2型 
 "Hypertyrosinemia type II", "Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II" 
 -  -  -  [告示番号241-243計]100人未満  Biobank 
 Animal model
 243  高チロシン血症3型 
 "Hypertyrosinemia type III", "High tyrosinemia", "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III" 
 -  -  -  [告示番号241-243計]100人未満  Biobank 
 Animal model
 244  メープルシロップ尿症 
 "Maple syrup urine disease", "MSUD" 
 1 trial 
 0 / 1 / 1 / 0 
 1 drug 
 [ 1 drug
 -  約100人  Biobank 
 Animal model
 245  プロピオン酸血症 
 "Propionic acidemia" 
 5 trials 
 1 / 3 / 1 / 0 
 9 drugs 
 [ 4 drugs
 1 gene 
 6 pathways
 
 約300人  Biobank 
 Animal model
 246  メチルマロン酸血症 
 "Methylmalonic acidemia" 
 6 trials 
 1 / 5 / 1 / 0 
 16 drugs 
 [ 2 drugs
 1 gene 
 6 pathways
 
 約300人  Biobank 
 Animal model
 247  イソ吉草酸血症 
 "Isovaleric acidemia", "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency" 
 -  -  -  100人未満  Biobank 
 Animal model
 248  グルコーストランスポーター1欠損症 
 "Glucose transporter type 1 deficiency", "GLUT1 deficiency" 
 18 trials 
 4 / 10 / 3 / 0 
 7 drugs 
 [ 1 drug
 -  100人未満  Biobank 
 Animal model
 249  グルタル酸血症1型 
 "Glutaric acidemia type 1" 
 -  -  -  100人未満  Biobank 
 Animal model
 250  グルタル酸血症2型 
 "Glutaric acidemia type 2", "Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD" 
 -  -  -  100人未満  Biobank 
 Animal model
 251  尿素サイクル異常症 
 "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" 
 20 trials 
 10 / 11 / 0 / 2 
 29 drugs 
 [ 9 drugs
 1 gene 
 1 pathway
 
 OTC欠損症 約500人; CPSI欠損症 約100人; アルギニノコハク酸尿症 約100人; その他の尿素サイクル異常症 それぞれ100人未満;  Biobank 
 Animal model
 252  リジン尿性蛋白不耐症 
 "Lysinuric protein intolerance" 
 -  -  -  100人未満  Biobank 
 Animal model
 253  先天性葉酸吸収不全 
 "Congenital folate malabsorption", "Hereditary folate malabsorption", "Folate malabsorption" 
 -  -  -  100人未満  Biobank 
 Animal model
 254  ポルフィリン症 
 "Porphyria", "Hereditary coproporphyria", "Erythropoietic protoporphyria", "X-linked dominant protoporphyria" 
 34 trials 
 9 / 15 / 11 / 1 
 35 drugs 
 [ 20 drugs
 17 genes 
 30 pathways
 
 約200人  Biobank 
 Animal model
 255  複合カルボキシラーゼ欠損症 
 "Multiple carboxylase deficiency", "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency" 
 1 trial 
 1 / 1 / 0 / 0 
 1 drug 
 [ - ] 
 -  本邦での HCS 欠損症の発症頻度は1/100万である。ビオチニダーゼ欠損症は数例の報告である。  Biobank 
 Animal model
 256  筋型糖原病 
 "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" 
 81 trials 
 17 / 33 / 12 / 14 
 71 drugs 
 [ 20 drugs
 32 genes 
 97 pathways
 
 推定約3,000〜6,000人  Biobank 
 Animal model
 257  肝型糖原病 
 "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 
 15 drugs 
 [ 4 drugs
 1 gene 
 4 pathways
 
 約1,200人   Biobank 
 Animal model
 258  ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症 
 "Galactose-1-phosphate uridylyltransferase deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency" 
 -  -  -  100人未満  Biobank 
 Animal model
 259  レシチンコレステロールアシルトランスフェラーゼ欠損症 
 "Lecithin-cholesterol acyltransferase deficiency", "LCAT deficiency", "Fish-eye disease" 
 1 trial 
 0 / 0 / 0 / 0 
 2 drugs 
 [ 1 drug
 -  100人未満  Biobank 
 Animal model
 260  シトステロール血症 
 "Sitosterolemia" 
 12 trials 
 0 / 1 / 5 / 0 
 11 drugs 
 [ 4 drugs
 1 gene 
 1 pathway
 
 100人未満    Biobank 
 Animal model
 261  タンジール病 
 "Tangier disease" 
 1 trial 
 0 / 0 / 0 / 0 
 2 drugs 
 [ 1 drug
 -  約100人未満  Biobank 
 Animal model
 262  原発性高カイロミクロン血症 
 "Primary hyperchylomicronemia" 
 -  -  -  約300人  Biobank 
 Animal model
 263  脳腱黄色腫症 
 "Cerebrotendinous xanthomatosis", "27-hydroxylase deficiency", "CYP27 deficiency" 
 3 trials 
 0 / 1 / 0 / 0 
 3 drugs 
 [ 2 drugs
 2 genes 
 4 pathways
 
 100人未満   Biobank 
 Animal model
 264  無βリポタンパク血症 
 "Abetalipoproteinemia", "Microsomal triglyceride transfer protein deficiency", "MTP deficiency" 
 -  -  -  100人未満(わが国では1,983年に第1例が報告されて以降数家系のみ)  Biobank 
 Animal model
 265  脂肪萎縮症 
 "Lipodystrophy", "Berardinelli-Seip syndrome", "Lawrence syndrome", "Barraquer-Simons syndrome" 
 88 trials 
 9 / 23 / 11 / 21 
 132 drugs 
 [ 54 drugs
 14 genes 
 78 pathways
 
 約100人  Biobank 
 Animal model
 266  家族性地中海熱 
 "Familial mediterranean fever" 
 16 trials 
 1 / 7 / 2 / 2 
 14 drugs 
 [ 6 drugs
 14 genes 
 52 pathways
 
 約300人  Biobank 
 Animal model
 267  高IgD症候群 
 "Hyper-IgD syndrome", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome" 
 -  -  -  100人未満  Biobank 
 Animal model
 268  中條・西村症候群 
 "Nakajo-Nishimura syndrome", "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome" 
 -  -  -  100人未満  Biobank 
 Animal model
 269  化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 
 "Pyogenic arthritis", "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome" 
 18 trials 
 1 / 10 / 6 / 0 
 22 drugs 
 [ 11 drugs
 12 genes 
 88 pathways
 
 約100人未満  Biobank 
 Animal model
 270  慢性再発性多発性骨髄炎 
 "Chronic recurrent multifocal osteomyelitis" 
 -  -  -  100人未満  Biobank 
 Animal model
 271  強直性脊椎炎 
 "Ankylosing spondylitis", "Spondylarthritis ankylopoietica" 
 254 trials 
 13 / 53 / 84 / 54 
 252 drugs 
 [ 59 drugs
 36 genes 
 130 pathways
 
 約4,500人  Biobank 
 Animal model
 272  進行性骨化性線維異形成症 
 "Fibrodysplasia ossificans progressiva" 
 9 trials 
 1 / 7 / 2 / 0 
 7 drugs 
 [ 2 drugs
 8 genes 
 42 pathways
 
 100人未満  Biobank 
 Animal model
 273  肋骨異常を伴う先天性側弯症 
 "Congenital scoliosis with rib anomaly", "Congenital scoliosis" 
 -  -  -  10歳以下の小児において、およそ2,000人以下。  Biobank 
 Animal model
 274  骨形成不全症 
 "Osteogenesis Imperfecta" 
 42 trials 
 7 / 12 / 7 / 6 
 55 drugs 
 [ 13 drugs
 12 genes 
 70 pathways
 
 約6,000人  Biobank 
 Animal model
 275  タナトフォリック骨異形成症 
 "Thanatophoric dysplasia" 
 -  -  -  100人未満  Biobank 
 Animal model
 276  軟骨無形成症 
 "Achondroplasia" 
 11 trials 
 1 / 5 / 3 / 0 
 8 drugs 
 [ 2 drugs
 1 gene 
 5 pathways
 
 全国で6,000人(発生頻度から推定。)  Biobank 
 Animal model
 277  リンパ管腫症/ゴーハム病 
 "Lymphangiomatosis", "Generalized lymphatic anomaly", "Gorham disease", "Gorham-Stout disease", "Diffuse lymphangiomatosis", "Mass osteolysis" 
 6 trials 
 2 / 2 / 1 / 0 
 2 drugs 
 [ 2 drugs
 1 gene 
 43 pathways
 
 約100人(研究班全国調査より推定)  Biobank 
 Animal model
 278  巨大リンパ管奇形(頚部顔面病変) 
 "Huge lymphatic malformation with cervicofacial lesion", "Huge lymphatic malformation", "Lymphatic malformation" 
 14 trials 
 1 / 8 / 2 / 1 
 15 drugs 
 [ 7 drugs
 5 genes 
 55 pathways
 
 約600人  Biobank 
 Animal model
 279  巨大静脈奇形(頚部口腔咽頭びまん性病変) 
 "Huge venous malformation with cervical, oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation" 
 7 trials 
 1 / 3 / 0 / 2 
 16 drugs 
 [ 6 drugs
 1 gene 
 43 pathways
 
 約200人  Biobank 
 Animal model
 280  巨大動静脈奇形(頚部顔面又は四肢病変) 
 "Huge arteriovenous malformation with cervicofacial or limb lesion", "Huge arteriovenous malformation", "Arteriovenous malformation" 
 17 trials 
 4 / 3 / 0 / 2 
 17 drugs 
 [ 10 drugs
 8 genes 
 106 pathways
 
 約700人  Biobank 
 Animal model
 281  クリッペル・トレノネー・ウェーバー症候群 
 "Klippel-Trenaunay-Weber syndrome" 
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 1 gene 
 43 pathways
 
 約3,000人  Biobank 
 Animal model
 282  先天性赤血球形成異常性貧血 
 "Congenital dyserythropoietic anemia" 
 1 trial 
 0 / 0 / 0 / 1 
 1 drug 
 [ 1 drug
 2 genes 
 4 pathways
 
 100人未満  Biobank 
 Animal model
 283  後天性赤芽球癆 
 "Acquired pure red cell aplasia", "Pure red cell aplasia" 
 12 trials 
 2 / 7 / 1 / 3 
 25 drugs 
 [ 17 drugs
 15 genes 
 84 pathways
 
 年間新規患者発生率:0.3人/100万人  Biobank 
 Animal model
 284  ダイアモンド・ブラックファン貧血 
 "Diamond-Blackfan anemia" 
 34 trials 
 13 / 25 / 3 / 1 
 91 drugs 
 [ 36 drugs
 21 genes 
 106 pathways
 
 約200人  Biobank 
 Animal model
 285  ファンコニ貧血 
 "Fanconi anemia" 
 46 trials 
 21 / 29 / 2 / 0 
 65 drugs 
 [ 27 drugs
 25 genes 
 133 pathways
 
 約200人  Biobank 
 Animal model
 286  遺伝性鉄芽球性貧血 
 "Hereditary sideroblastic anemia", "Congenital sideroblastic anemia", "Sideroblastic anemia" 
 3 trials 
 0 / 1 / 0 / 0 
 7 drugs 
 [ 4 drugs
 -  100人未満  Biobank 
 Animal model
 287  エプスタイン症候群 
 "Epstein syndrome" 
 -  -  -  約200人  Biobank 
 Animal model
 288  自己免疫性後天性凝固因子欠乏症 
 "Autoimmune acquired coagulation factor deficiency", "Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "von Willebrand Disease", "Factor V deficiency" 
 84 trials 
 6 / 17 / 25 / 10 
 115 drugs 
 [ 21 drugs
 7 genes 
 10 pathways
 
 約700人  Biobank 
 Animal model
 289  クロンカイト・カナダ症候群 
 "Cronkhite-Canada syndrome" 
 -  -  -  約500人  Biobank 
 Animal model
 290  非特異性多発性小腸潰瘍症 
 "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
 
 約200人  Biobank 
 Animal model
 291  ヒルシュスプルング病(全結腸型又は小腸型) 
 "Hirschsprung disease, entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis" 
 10 trials 
 0 / 1 / 1 / 1 
 20 drugs 
 [ 12 drugs
 -  約10,000人(そのうち全結腸型、小腸型は約1,000人)  Biobank 
 Animal model
 292  総排泄腔外反症 
 "Cloacal exstrophy", "Vesicointestinal fissure" 
 -  -  -  約300人  Biobank 
 Animal model
 293  総排泄腔遺残 
 "Persistent cloaca" 
 -  -  -  約600人  Biobank 
 Animal model
 294  先天性横隔膜ヘルニア 
 "Congenital diaphragmatic hernia" 
 7 trials 
 1 / 1 / 2 / 1 
 12 drugs 
 [ 4 drugs
 5 genes 
 14 pathways
 
 約5,000人  Biobank 
 Animal model
 295  乳幼児肝巨大血管腫 
 "Infant huge hepatic hemangioma", "Infant giant liver hemangioma" 
 -  -  -  100人未満  Biobank 
 Animal model
 296  胆道閉鎖症 
 "Biliary atresia" 
 23 trials 
 4 / 3 / 1 / 1 
 37 drugs 
 [ 21 drugs
 35 genes 
 35 pathways
 
 約3,500人   Biobank 
 Animal model
 297  アラジール症候群 
 "Alagille syndrome" 
 13 trials 
 2 / 4 / 0 / 0 
 13 drugs 
 [ 8 drugs
 -  約200〜300人   Biobank 
 Animal model
 298  遺伝性膵炎 
 "Hereditary pancreatitis", "Chronic pancreatitis" 
 79 trials 
 14 / 22 / 15 / 9 
 116 drugs 
 [ 44 drugs
 46 genes 
 121 pathways
 
 約300〜400人  Biobank 
 Animal model
 299  嚢胞性線維症 
 "Cystic fibrosis" 
 856 trials 
 163 / 267 / 186 / 82 
 981 drugs 
 [ 220 drugs
 84 genes 
 158 pathways
 
 100人未満  Biobank 
 Animal model
 300  IgG4関連疾患 
 "IgG4-related disease", "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease" 
 20 trials 
 4 / 5 / 3 / 2 
 19 drugs 
 [ 13 drugs
 8 genes 
 72 pathways
 
 約8,000人  Biobank 
 Animal model
 301  黄斑ジストロフィー 
 "Macular dystrophy", "Best disease", "Stargardt disease", "Cone dystrophy", "Cone rod dystrophy", "X-linked juvenile retinoschisis", "Central areolar choroidal dystrophy" 
 25 trials 
 14 / 16 / 2 / 0 
 28 drugs 
 [ 7 drugs
 6 genes 
 45 pathways
 
 1,000名  Biobank 
 Animal model
 302  レーベル遺伝性視神経症 
 "Leber hereditary optic neuropathy" 
 8 trials 
 2 / 4 / 4 / 0 
 10 drugs 
 [ 3 drugs
 5 genes 
 30 pathways
 
 一年間の新規発症推定患者数117人  Biobank 
 Animal model
 303  アッシャー症候群 
 "Usher syndrome" 
 3 trials 
 2 / 3 / 0 / 0 
 3 drugs 
 [ - ] 
 -  約8,160人  Biobank 
 Animal model
 304  若年発症型両側性感音難聴 
 "Juvenile-onset bilateral sensorineural hearing loss" 
 -  -  -  約4,000人  Biobank 
 Animal model
 305  遅発性内リンパ水腫 
 "Delayed endolymphatic hydrops" 
 2 trials 
 0 / 0 / 0 / 0 
 2 drugs 
 [ 2 drugs
 -  約4,000〜5,000人  Biobank 
 Animal model
 306  好酸球性副鼻腔炎 
 "Eosinophilic sinusitis" 
 1 trial 
 0 / 0 / 0 / 0 
 3 drugs 
 [ 3 drugs
 2 genes 
 8 pathways
 
 約20,000人  Biobank 
 Animal model
 307  カナバン病 
 "Canavan disease" 
 3 trials 
 1 / 1 / 0 / 0 
 4 drugs 
 [ - ] 
 -  数人  Biobank 
 Animal model
 308  進行性白質脳症 
 "Progressive leukoencephalopathy", "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure" 
 -  -  -  100人未満  Biobank 
 Animal model
 309  進行性ミオクローヌスてんかん 
 "Progressive myoclonus epilepsy", "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME" 
 4 trials 
 0 / 0 / 3 / 0 
 10 drugs 
 [ 3 drugs
 4 genes 
 9 pathways
 
 約3,000人  Biobank 
 Animal model
 310  先天異常症候群 
 "Congenital anomalies syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome" 
 8 trials 
 2 / 6 / 0 / 0 
 13 drugs 
 [ 6 drugs
 2 genes 
 4 pathways
 
 約4,000人  Biobank 
 Animal model
 311  先天性三尖弁狭窄症 
 "Congenital tricuspid stenosis" 
 -  -  -  約500人  Biobank 
 Animal model
 312  先天性僧帽弁狭窄症 
 "Congenital mitral stenosis" 
 -  -  -  約100人  Biobank 
 Animal model
 313  先天性肺静脈狭窄症 
 "Congenital pulmonary vein stenosis" 
 -  -  -  約80人  Biobank 
 Animal model
 314  左肺動脈右肺動脈起始症 
 "Vascular sling" 
 -  -  -  約600人  Biobank 
 Animal model
 315  ネイルパテラ症候群(爪膝蓋骨症候群)/LMX1B関連腎症 
 "Nail-Patella syndrome", "LMX1B-associated nephropathy" 
 -  -  -  約500人  Biobank 
 Animal model
 316  カルニチン回路異常症 
 "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" 
 3 trials 
 0 / 0 / 1 / 0 
 10 drugs 
 [ 4 drugs
 2 genes 
 8 pathways
 
 約960人  Biobank 
 Animal model
 317  三頭酵素欠損症 
 "Trifunctional protein deficiency" 
 3 trials 
 0 / 1 / 0 / 0 
 8 drugs 
 [ 4 drugs
 1 gene 
 1 pathway
 
 100人未満  Biobank 
 Animal model
 318  シトリン欠損症  
 "Citrin deficiency", "NICCD", "Adult-onset type II citrullinemia", "CTLN2" 
 1 trial 
 0 / 1 / 0 / 0 
 1 drug 
 [ 1 drug
 -  約1,500人  Biobank 
 Animal model
 319  セピアプテリン還元酵素(SR)欠損症 
 "Sepiapterin reductase deficiency" 
 -  -  -  100人未満(約1人)  Biobank 
 Animal model
 320  先天性グリコシルホスファチジルイノシトール(GPI)欠損症 
 "Inherited glycosylphosphatidylinositol deficiency", "Congenital glycosylphosphatidylinositol deficiency" 
 -  -  -  100人未満   Biobank 
 Animal model
 321  非ケトーシス型高グリシン血症 
 "Non-ketotic hyperglycinemia" 
 -  -  -  100人未満  Biobank 
 Animal model
 322  β―ケトチオラーゼ欠損症 
 "Beta-ketothiolase deficiency" 
 -  -  -  100人未満  Biobank 
 Animal model
 323  芳香族L-アミノ酸脱炭酸酵素欠損症 
 "Aromatic L-amino acid decarboxylase deficiency" 
 -  -  -  100人未満(約10例)  Biobank 
 Animal model
 324  メチルグルタコン酸尿症 
 "Methylglutaconic aciduria", "3-methylglutaconyl-CoA hydratase deficiency", "Barth syndrome", "Costeff syndrome", "Mitochondrial respiratory chain disorder", "Dilated cardiomyopathy with ataxia syndrome", "DCMA syndrome" 
 2 trials 
 0 / 2 / 1 / 0 
 2 drugs 
 [ 2 drugs
 -  100人未満  Biobank 
 Animal model
 325  遺伝性自己炎症疾患 
 "Hereditary autoinflammatory syndrome", "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "Aicardi-Goutieres syndrome", "A20 haploinsufficiency" 
 5 trials 
 2 / 4 / 0 / 0 
 9 drugs 
 [ 6 drugs
 2 genes 
 32 pathways
 
 100人未満(すべて成人症例が存在する。)  Biobank 
 Animal model
 326  大理石骨病 
 "Osteopetrosis" 
 16 trials 
 5 / 11 / 4 / 1 
 33 drugs 
 [ 11 drugs
 15 genes 
 55 pathways
 
 約100人  Biobank 
 Animal model
 327  特発性血栓症(遺伝性血栓性素因によるものに限る。) 
 "Idiopathic thrombosis" 
 -  -  -  研究班の全国調査から、本邦での患者総数は、約2,000人、年間発症患者数は、新生児・乳児期発症患者は100人未満、成人発症患者は約500人と推定される。  Biobank 
 Animal model
 328  前眼部形成異常 
 "Anterior segment dysgenesis" 
 -  -  -  約6,000人  Biobank 
 Animal model
 329  無虹彩症 
 "Aniridia" 
 3 trials 
 0 / 2 / 0 / 0 
 2 drugs 
 [ 2 drugs
 -  約1,200人  Biobank 
 Animal model
 330  先天性気管狭窄症/先天性声門下狭窄症 
 "Congenital tracheal stenosis", "Congenital subglottic stenosis" 
 1 trial 
 0 / 1 / 0 / 0 
 3 drugs 
 [ 2 drugs
 -  約1,000人  Biobank 
 Animal model
 331  特発性多中心性キャッスルマン病 
 "Idiopathic multicentric castleman disease", "Castleman disease" 
 18 trials 
 6 / 10 / 0 / 1 
 37 drugs 
 [ 24 drugs
 30 genes 
 140 pathways
 
 約1,500人  Biobank 
 Animal model
 332  膠様滴状角膜ジストロフィー 
 "Gelatinous drop-like corneal dystrophy" 
 -  -  -  約400人  Biobank 
 Animal model
 333  ハッチンソン・ギルフォード症候群 
 "Hutchinson-Gilford syndrome", "Hutchinson-Gilford progeria syndrome", "HGPS" 
 5 trials 
 1 / 4 / 1 / 0 
 5 drugs 
 [ 3 drugs
 4 genes 
 6 pathways
 
 100人未満  Biobank 
 Animal model

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