Disease 指定難病
疾患数 : 348 - 臨床試験総数 : 39,610 / 薬物総数 : 18,765 - ( DrugBank : 2,435 ) / 標的遺伝子総数 : 703 - 標的パスウェイ総数 : 305
| 告示 番号 | 疾患名 ［疾患群］ | 臨床試験数 | Phase 1 / 2 / 3 / 4 | 薬物数 [ DrugBank ] | 標的遺伝子数 | パスウェイ数 | 国内患者数 医療費受給者証所持者数 (R5年度) |
|---|---|---|---|---|---|
| 1 | 球脊髄性筋萎縮症 [神] 💬 "Spinal and bulbar muscular atrophy", "Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy-Alter-Sung syndrome" | 19 19 trials | 1 / 13 / 1 / 1 💬 | 16 16 drugs [ 7 7 drugs ] | 10 10 genes | 18 pathways | 1700 1,700人年齢分布
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| 2 | 筋萎縮性側索硬化症 [神] 💬 "Amyotrophic lateral sclerosis", "ALS" | 786 786 trials | 153 / 339 / 262 / 10 💬 | 550 550 drugs [ 182 182 drugs ] | 170 170 genes | 232 pathways | 9727 9,727人年齢分布
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| 3 | 脊髄性筋萎縮症 [神] 💬 "Spinal muscular atrophy", "SMA", "Myelopathic muscular atrophy", "Werdnig-Hoffman disease", "Dubowitz disease", "Kugelberg-Welander disease" | 297 297 trials | 44 / 127 / 131 / 17 💬 | 143 143 drugs [ 32 32 drugs ] | 54 54 genes | 82 pathways | 955 955人年齢分布
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| 4 | 原発性側索硬化症 [神] 💬 "Primary lateral sclerosis", "PLS" | 6 6 trials | 1 / 0 / 0 / 0 💬 | 10 10 drugs [ 6 6 drugs ] | 13 13 genes | 27 pathways | 163 163人年齢分布
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| 5 | 進行性核上性麻痺 [神] 💬 "Progressive supranuclear palsy", "PSP" | 93 93 trials | 17 / 48 / 9 / 2 💬 | 97 97 drugs [ 33 33 drugs ] | 65 65 genes | 111 pathways | 13355 13,355人年齢分布
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| 6 | パーキンソン病 [神] 💬 "Parkinson disease", "Disease Parkinson's" | 2,586 2,586 trials | 347 / 712 / 597 / 231 💬 | 1,871 1,871 drugs [ 354 354 drugs ] | 188 188 genes | 205 pathways | 147481 147,481人年齢分布
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| 7 | 大脳皮質基底核変性症 [神] 💬 "Corticobasal degeneration", "Corticobasal syndrome", "CBD" | 25 25 trials | 1 / 2 / 0 / 0 💬 | 39 39 drugs [ 15 15 drugs ] | 9 9 genes | 41 pathways | 4469 4,469人年齢分布
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| 8 | ハンチントン病 [神] 💬 "Huntington disease", "Huntington chorea" | 276 276 trials | 69 / 155 / 45 / 4 💬 | 185 185 drugs [ 58 58 drugs ] | 86 86 genes | 160 pathways | 889 889人年齢分布
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| 9 | 神経有棘赤血球症 [神] 💬 "Neuroacanthocytosis", "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome", "Huntington disease-like 2", "HDL2" | 0 - | 0 - | 0 - | 34 34人年齢分布
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| 10 | シャルコー・マリー・トゥース病 [神] 💬 "Charcot-Marie-Tooth disease", "CMT" | 45 45 trials | 7 / 15 / 23 / 0 💬 | 34 34 drugs [ 10 10 drugs ] | 12 12 genes | 22 pathways | 922 922人年齢分布
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| 11 | 重症筋無力症 [神] 💬 "Myasthenia gravis", "MG" | 439 439 trials | 16 / 117 / 263 / 17 💬 | 223 223 drugs [ 73 73 drugs ] | 50 50 genes | 135 pathways | 27371 27,371人年齢分布
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| 12 | 先天性筋無力症候群 [神] 💬 "Congenital myasthenic syndrome", "End-plate acetylcholine receptor deficiency", "Slow-channel congenital myasthenic syndrome", "Fast-channel congenital myasthenic syndrome", "Sodium channel myasthenia", "End-plate acetylcholine esterase deficiency", "Congenital myasthenic syndrome with episodic apnoea", "Dok-7 myasthenia", "DOK7 congenital myasthenic syndrome" | 6 6 trials | 2 / 0 / 0 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 5 5 genes | 15 pathways | 14 14人年齢分布
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| 13 | 多発性硬化症／視神経脊髄炎 [神] 💬 "Multiple sclerosis", "Neuromyelitis optica", "Neuromyelitis optica spectrum disorder", "NMOSD", "Balo concentric sclerosis", "Baló concentric sclerosis" | 3,685 3,685 trials | 240 / 740 / 1342 / 402 💬 | 1,932 1,932 drugs [ 355 355 drugs ] | 263 263 genes | 237 pathways | 24105 24,105人年齢分布
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| 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 [神] 💬 "Chronic inflammatory demyelinating polyneuropathy", "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "CIDP", "Multifocal motor neuropathy" | 223 223 trials | 1 / 119 / 92 / 7 💬 | 119 119 drugs [ 28 28 drugs ] | 11 11 genes | 22 pathways | 5464 5,464人年齢分布
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| 15 | 封入体筋炎 [神] 💬 "Inclusion body myositis" | 46 46 trials | 6 / 18 / 24 / 0 💬 | 41 41 drugs [ 14 14 drugs ] | 14 14 genes | 130 pathways | 895 895人年齢分布
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| 16 | クロウ・深瀬症候群 [神] 💬 "Crow-Fukase syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "POEMS syndrome", "Takatsuki disease", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome", "PEP syndrome" | 16 16 trials | 1 / 9 / 2 / 1 💬 | 17 17 drugs [ 8 8 drugs ] | 5 5 genes | 79 pathways | 271 271人年齢分布
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| 17 | 多系統萎縮症 [神] 💬 "Multiple system atrophy", "MSA", "MSA", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome" | 142 142 trials | 12 / 42 / 14 / 0 💬 | 142 142 drugs [ 44 44 drugs ] | 59 59 genes | 110 pathways | 10528 10,528人年齢分布
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| 18 | 脊髄小脳変性症（多系統萎縮症を除く。） [神] 💬 "Spinocerebellar degeneration", "SCD", ":Spinocerebellar ataxia", "SCA", "Machado-Joseph disease", "MJD", "Dentatorubural pallidoluysian atrophy", "Dentatorubropallidoluysial atrophy", "DRPLA", "Naito-Koyanagi disease", "Early-onset ataxia with ocular motor ataxia and hypoalbuminemia", "EAOH", "Neu:Ataxia with vitamin E deficiency", "AVED", "Aprataxin deficiency", "APTX deficiency", "Friedreich ataxia", "FRDA", "Senataxin deficiency", "SETX deficiency", "Autosomal recessive spastic ataxia of Charlevoix-Saguenay", "Spastic ataxia" | 83 83 trials | 19 / 45 / 20 / 2 💬 | 83 83 drugs [ 31 31 drugs ] | 30 30 genes | 53 pathways | 26578 26,578人年齢分布
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| 22 | もやもや病 [神] 💬 "Moyamoya disease", "Occlusive disease in circle of Willis" | 23 23 trials | 4 / 2 / 1 / 4 💬 | 29 29 drugs [ 21 21 drugs ] | 35 35 genes | 50 pathways | 13689 13,689人年齢分布
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| 23 | プリオン病 [神] 💬 "Prion disease", "Creutzfeldt-Jakob disease", "CJD", "Sporadic CJD", "sCJD", "Gerstmann-Straussler-Scheinker syndrome", "GSS", "Fatal familial insomnia", "FFI", "Kuru disease", "Iatrogenic CJD", "iCJD", "Variant CCJD", "vCJD" | 5 5 trials | 1 / 2 / 1 / 0 💬 | 6 6 drugs [ 2 2 drugs ] | 0 - | 448 448人年齢分布
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| 24 | 亜急性硬化性全脳炎 [神] 💬 "Subacute sclerosing panencephalitis", "SSPE" | 0 - | 0 - | 0 - | 53 53人年齢分布
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| 25 | 進行性多巣性白質脳症 [神] 💬 "Progressive multifocal leukoencephalopathy", "PML", "Leukoencephalopathy, progressive multifocal" | 28 28 trials | 1 / 9 / 1 / 1 💬 | 31 31 drugs [ 20 20 drugs ] | 7 7 genes | 35 pathways | 78 78人年齢分布
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| 26 | HTLV-1関連脊髄症 [神] 💬 "HTLV-1-associated myelopathy", "Tropical spastic paraparesis", "HTLV-1", "HTLV-I", "HAM" | 32 32 trials | 8 / 16 / 9 / 3 💬 | 46 46 drugs [ 27 27 drugs ] | 35 35 genes | 124 pathways | 1038 1,038人年齢分布
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| 27 | 特発性基底核石灰化症 [神] 💬 "Idiopathic basal ganglia calcification", "IBGC", "Familial IBGC", "FIBGC", "Primary familial brain calcification", "PFBC", "Fahr disease" | 2 2 trials | 0 / 2 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 141 141人年齢分布
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| 29 | ウルリッヒ病 [神] 💬 "Ullrich disease", "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy" | 0 - | 0 - | 0 - | 21 21人年齢分布
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| 30 | 遠位型ミオパチー [神] 💬 "Distal myopathy", "Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "Distal myopathy with rimmed vacuoles", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy" | 13 13 trials | 1 / 3 / 10 / 0 💬 | 11 11 drugs [ 2 2 drugs ] | 1 1 gene | 1 pathway | 343 343人年齢分布
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| 31 | ベスレムミオパチー [神] 💬 "Bethlem myopathy", "Beth Rem myopathy" | 0 - | 0 - | 0 - | 26 26人年齢分布
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| 32 | 自己貪食空胞性ミオパチー [神] 💬 "Autophagic vacuolar myopathy", "Danon disease", "X-linked myopathy with excessive autophagy", "XMEA" | 2 2 trials | 1 / 1 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 9 9人年齢分布
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| 33 | シュワルツ・ヤンペル症候群 [神] 💬 "Schwartz-Jampel syndrome", "Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome" | 0 - | 0 - | 0 - | 1 1人年齢分布
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| 111 | 先天性ミオパチー [神] 💬 "Congenital myopathy", "Nemaline myopathy", "Central core disease", "Minicore myopathy", "Multi-minicore myopathy", "Myotubular myopathy", "X-linked myotubular myopathy", "XLMTM", "Centronuclear myopathy", "CNM", "Congenital fiber-type disproportion myopathy" | 10 10 trials | 6 / 8 / 2 / 1 💬 | 13 13 drugs [ 2 2 drugs ] | 1 1 gene | 11 pathways | 390 390人年齢分布
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| 112 | マリネスコ・シェーグレン症候群 [神] 💬 "Marinesco-Sjogren syndrome", "Hereditary cerebellar ataxia-childhood cataracts" | 0 - | 0 - | 0 - | 5 5人年齢分布
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| 113 | 筋ジストロフィー [神] 💬 "Muscular dystrophy", "Dystrophinopathies", "Duchenne muscular dystrophy", "DMD", "Becker muscular dystrophy", "BMD", "Limb-girdle muscular dystrophy", "LGMD", "Congenital muscular dystrophy", "CMD", "Fukuyama-type congenital muscular dystrophy", "FCMD", "Walker-Warburg syndrome", "Muscle-eye-brain disease", "α-dystroglycanopathy", "Integrin α7 deficient CMD", "CIntegrin α7 deficient ongenital muscular dystrophy", "Merosin-deficient congenital muscular dystrophy", "Ullrich congenital muscular dystrophy", "Laminopathy", "Rigid spine syndrome", "Dynamin 2 deficient congenital muscular dystrophy", "Telesonin-deficient congenital muscular dystrophy", "Congenital muscular dystrophy with mitochondrial structural abnormalities", "Facioscapulohumeral muscular dystrophy", "FSMD", "Myotonic dystrophy", "Dystrophia myotonica", "DM", "Emery-Dreifuss muscular dystrophy", "EDMD", "Oculopharyngeal muscular dystrophy", "OPMD", "Myotilinopathy", "Caveolinopathy", "Limb gridle muscular dystrophy 1C", "LGMD1C", "Desminopathy", "Sarcoglycanopathy" | 766 766 trials | 171 / 308 / 283 / 11 💬 | 477 477 drugs [ 119 119 drugs ] | 80 80 genes | 178 pathways | 5701 5,701人年齢分布
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| 114 | 非ジストロフィー性ミオトニー症候群 [神] 💬 "Non-dystrophic myotonia syndrome", "Non-dystrophic Myotonia", "Myotonia congenita", "Thomsen disease", "Autosomal-dominant myotonia congenita", "Becker disease", "Autosomal-recessive myotonia congenita", "Paramyotonia congenita", "Sodium channel myotonia" | 13 13 trials | 0 / 3 / 4 / 0 💬 | 14 14 drugs [ 4 4 drugs ] | 18 18 genes | 9 pathways | 33 33人年齢分布
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| 115 | 遺伝性周期性四肢麻痺 [神] 💬 "Hereditary periodic paralysis", "Hereditary hypokalemic periodic paralysis", "Andersen-Tawil syndrome", "Hereditary hyperkalemic periodic paralysis" | 2 2 trials | 1 / 1 / 0 / 0 💬 | 3 3 drugs [ 3 3 drugs ] | 18 18 genes | 9 pathways | 72 72人年齢分布
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| 116 | アトピー性脊髄炎 [神] 💬 "Atopic myelitis", "Idiopathic eosinophilic myelitis" | 0 - | 0 - | 0 - | 65 65人年齢分布
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| 117 | 脊髄空洞症 [神] 💬 "Syringomyelia" | 4 4 trials | 0 / 4 / 0 / 0 💬 | 6 6 drugs [ 2 2 drugs ] | 1 1 gene | 66 pathways | 636 636人年齢分布
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| 118 | 脊髄髄膜瘤 [神] 💬 "Myelomeningocele", "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele" | 6 6 trials | 1 / 1 / 0 / 1 💬 | 9 9 drugs [ 4 4 drugs ] | 2 2 genes | 12 pathways | 161 161人年齢分布
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| 119 | アイザックス症候群 [神] 💬 "Isaacs syndrome", "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis" | 0 - | 0 - | 0 - | 116 116人年齢分布
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| 120 | 遺伝性ジストニア [神] 💬 "Hereditary dystonia", "X-linked dystonia parkinsonism", "Lubag", "Segawa syndrome", "SS", "Dopa-responsive dystonia", "DRD", "Paroxysmal nonkinesigenic dyskinesia 1", "PNKD1", "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity", "Paroxysmal choreoathetosis and episodic ataxia and spasticity", "CSE", "Episodic kinesigenic dyskinesia 1", "EKD1", "Myoclonus-dystonia syndrome", "MDS", "Rapid-onset dystonia-parkinsonism", "RDP", "Alternating hemiplegia of childhood", "AHC", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "Paroxysmal execise-induced dyskinesia", "PED", "Episodic kinesigenic dyskinesia 2", "EKD2", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "MEPAN syndrome" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 0 - ] | 0 - | 147 147人年齢分布
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| 121 | 脳内鉄沈着神経変性症 [神] 💬 "Neurodegeneration with brain iron accumulation", "NBIA", "Neuroferritinopathy", "FTL", "NBIA3", "Pantothenate kinase-associated neurodegeneration", "PKAN", "NBIA1", "Infantile neuroaxonal dystrophy", "INAD", "NBIA2", "Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration", "PLAN", "NBIA/DYT/PARK-PLA2G6", "Mitochondrial membrane protein-associated neurodegeneration", "MPAN", "NBIA4", "Static encephalopathy of childhood with neurodegeneration in adulthood", "Beta-propeller protein-associated neurodegeneration", "BPAN", "NBIA5", "Coenzyme A synthase (COASY) protein-associated neurodegeneration", "CoPAN", "NBIA6", "Aceruloplaminemia", "Hereditary ceruloplasmin deficiency", "Fatty Acid Hydroxylase-associated neurodegeneration", "FAHN", "Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35", "Kufor-Rakeb syndrome", "DDB1 and CLUL4 associated factor 17", "DCAF17", "Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome" | 30 30 trials | 1 / 3 / 18 / 1 💬 | 26 26 drugs [ 5 5 drugs ] | 4 4 genes | 106 pathways | 3 3人年齢分布
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| 122 | 脳表ヘモジデリン沈着症 [神] 💬 "Superficial siderosis", "SS", "Classical superficial siderosis", "Classical SS", "Brain table hemosiderosis" | 4 4 trials | 0 / 0 / 0 / 0 💬 | 8 8 drugs [ 2 2 drugs ] | 0 - | 241 241人年齢分布
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| 123 | HTRA1関連脳小血管病 [神] 💬 "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", "HTRA1-related cerebral small vessel disease", "HRSVD" | 0 - | 0 - | 0 - | 9 9人年齢分布
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| 124 | 皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症 [神] 💬 "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" | 17 17 trials | 1 / 11 / 0 / 0 💬 | 19 19 drugs [ 9 9 drugs ] | 6 6 genes | 24 pathways | 259 259人年齢分布
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| 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 [神] 💬 "Hereditary diffuse leukoencephalopathy with spheroid", "HDLS", "Hereditary diffuse leukoencephalopathy" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 4 4 drugs [ 1 1 drug ] | 0 - | 72 72人年齢分布
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| 126 | ペリー病 [神] 💬 "Perry disease", "Perry syndrome" | 0 - | 0 - | 0 - | 4 4人年齢分布
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| 127 | 前頭側頭葉変性症 [神] 💬 "Frontotemporal lobar degeneration", "Frontotemporal dementia, behavioral abnormal type", "Frontotemporal dementia", "Semantic dementia" | 123 123 trials | 24 / 47 / 30 / 6 💬 | 107 107 drugs [ 33 33 drugs ] | 49 49 genes | 89 pathways | 1449 1,449人年齢分布
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| 128 | ビッカースタッフ脳幹脳炎 [神] 💬 "Bickerstaff brainstem encephalitis" | 0 - | 0 - | 0 - | 110 110人年齢分布
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| 129 | 痙攣重積型（二相性）急性脳症 [神] 💬 "Acute encephalopathy with biphasic seizures and late reduced diffusion", "AESD", "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy" | 1 1 trial | 0 / 1 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 46 46人年齢分布
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| 130 | 先天性無痛無汗症 [神] 💬 "Congenital insensitivity to pain with anhydrosis", "CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5" | 0 - | 0 - | 0 - | 45 45人年齢分布
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| 131 | アレキサンダー病 [神] 💬 "Alexander disease", "ALXDRD", "AxD" | 4 4 trials | 3 / 3 / 4 / 0 💬 | 4 4 drugs [ 1 1 drug ] | 0 - | 52 52人年齢分布
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| 132 | 先天性核上性球麻痺 [神] 💬 "Congenital supranuclear bulbar palsy", "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome" | 0 - | 0 - | 0 - | 7 7人年齢分布
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| 133 | メビウス症候群 [神] 💬 "Moebius syndrome", "Mobius syndrome", "Möbius syndrome" | 0 - | 0 - | 0 - | 17 17人年齢分布
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| 135 | アイカルディ症候群 [神] 💬 "Aicardi syndrome" | 2 2 trials | 0 / 2 / 1 / 0 💬 | 12 12 drugs [ 4 4 drugs ] | 2 2 genes | 37 pathways | 8 8人年齢分布
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| 136 | 片側巨脳症 [神] 💬 "Hemimegalencephaly", "Unilateral megalencephaly" | 0 - | 0 - | 0 - | 24 24人年齢分布
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| 137 | 限局性皮質異形成 [神] 💬 "Focal cortical dysplasia", "FCD" | 14 14 trials | 3 / 8 / 1 / 0 💬 | 10 10 drugs [ 3 3 drugs ] | 1 1 gene | 49 pathways | 82 82人年齢分布
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| 138 | 神経細胞移動異常症 [神] 💬 "Nerve cell migration disorder", "Lissencephaly", "Neuronal migration defect", "Lissencephaly", "Ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "orencephaly", "Miller-Dieker syndrome" | 2 2 trials | 0 / 2 / 0 / 0 💬 | 3 3 drugs [ 2 2 drugs ] | 1 1 gene | 103 pathways | 81 81人年齢分布
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| 139 | 先天性大脳白質形成不全症 [神] 💬 "Congenital cerebral hypomyelination", "Congenital cerebral white matter aplasia", "Congenital hypomyelinating leukodystrophy", "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", "Free sialic acid storage 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" | 13 13 trials | 2 / 7 / 1 / 0 💬 | 8 8 drugs [ 4 4 drugs ] | 2 2 genes | 3 pathways | 47 47人年齢分布
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| 140 | ドラベ症候群 [神] 💬 "Dorabe syndrome", "Dravet syndrome" | 139 139 trials | 9 / 25 / 90 / 6 💬 | 49 49 drugs [ 17 17 drugs ] | 53 53 genes | 67 pathways | 97 97人年齢分布
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| 141 | 海馬硬化を伴う内側側頭葉てんかん [神] 💬 "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" | 0 - | 0 - | 0 - | 84 84人年齢分布
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| 142 | ミオクロニー欠神てんかん [神] 💬 "Myoclonic absence epilepsy", "Epilepsy with myoclonic absence" | 0 - | 0 - | 0 - | 4 4人年齢分布
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| 143 | ミオクロニー脱力発作を伴うてんかん [神] 💬 "Epilepsy with myoclonic-atonic seizures", "Epilepsy with myoclonic cataplexy" | 1 1 trial | 0 / 0 / 1 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 18 18人年齢分布
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| 144 | レノックス・ガストー症候群 [神] 💬 "Lennox-Gastaut syndrome" | 128 128 trials | 2 / 3 / 61 / 1 💬 | 53 53 drugs [ 13 13 drugs ] | 50 50 genes | 62 pathways | 390 390人年齢分布
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| 145 | ウエスト症候群 [神] 💬 "West syndrome", "Infantile spasm", "Infantile spasms", "Infantile spasms syndrome", "Infantile epileptic spasms", "Infantile epileptic spasms syndrome" | 49 49 trials | 1 / 17 / 18 / 6 💬 | 43 43 drugs [ 16 16 drugs ] | 29 29 genes | 28 pathways | 351 351人年齢分布
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| 146 | 大田原症候群 [神] 💬 "Ohtahara syndrome", "Early infantile epileptic encephalopathy with suppression burst" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 13 13人年齢分布
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| 147 | 早期ミオクロニー脳症 [神] 💬 "Early myoclonic encephalopathy" | 0 - | 0 - | 0 - | 10 10人年齢分布
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| 148 | 遊走性焦点発作を伴う乳児てんかん [神] 💬 "Epilepsy of infancy with migrating focal seizures", "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy" | 2 2 trials | 1 / 0 / 0 / 0 💬 | 2 2 drugs [ 0 - ] | 0 - | 15 15人年齢分布
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| 149 | 片側痙攣・片麻痺・てんかん症候群 [神] 💬 "Hemiconvulsion hemiplegia epilepsy syndrome", "One side convulsions", "Hemiplegia", "Epilepsy syndrome" | 34 34 trials | 5 / 7 / 9 / 5 💬 | 37 37 drugs [ 16 16 drugs ] | 17 17 genes | 30 pathways | 31 31人年齢分布
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| 150 | 環状20番染色体症候群 [神] 💬 "Ring chromosome 20 epilepsy syndrome", "Ring chromosome 20 syndrome" | 0 - | 0 - | 0 - | 10 10人年齢分布
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| 151 | ラスムッセン脳炎 [神] 💬 "Rasmussen encephalitis" | 2 2 trials | 0 / 1 / 1 / 0 💬 | 3 3 drugs [ 2 2 drugs ] | 6 6 genes | 85 pathways | 50 50人年齢分布
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| 152 | PCDH19関連症候群 [神] 💬 "PCDH19 related syndrome", "PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19 related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy" | 11 11 trials | 0 / 4 / 5 / 0 💬 | 4 4 drugs [ 1 1 drug ] | 16 16 genes | 8 pathways | 10 10人年齢分布
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| 153 | 難治頻回部分発作重積型急性脳炎 [神] 💬 "Acute encephalitis with refractory, repetitive partial seizures", "AERRPS", "Refractory frequent partial seizures intussusception acute encephalitis", "Febrile infection related epilepsy syndrome", "FIRES", "New onset refractory status epilepsy syndrome", "NORSE syndrome" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 1 1 gene | 11 pathways | 71 71人年齢分布
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| 154 | 睡眠時棘徐波活性化を示す発達性てんかん性脳症およびてんかん性脳症 [神] 💬 "Epilepsy with continuous spikes and waves during slow sleep", "Epileptic encephalopathy with continuous spike-and-wave during sleep" | 8 8 trials | 0 / 8 / 0 / 0 💬 | 2 2 drugs [ 0 - ] | 0 - | 15 15人年齢分布
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| 155 | ランドウ・クレフナー症候群 [神] 💬 "Acquired aphasia with convulsive disorder", "Landau-Kleffner syndrome" | 1 1 trial | 0 / 1 / 1 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 29 29 genes | 14 pathways | 5 5人年齢分布
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| 156 | レット症候群 [神] 💬 "Rett syndrome" | 55 55 trials | 8 / 30 / 18 / 0 💬 | 51 51 drugs [ 22 22 drugs ] | 77 77 genes | 116 pathways | 128 128人年齢分布
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| 157 | スタージ・ウェーバー症候群 [神] 💬 "Sturge-Weber syndrome", "Síndrome de Sturge-Weber" | 8 8 trials | 3 / 5 / 1 / 1 💬 | 7 7 drugs [ 4 4 drugs ] | 5 5 genes | 63 pathways | 72 72人年齢分布
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| 158 | 結節性硬化症 [神] 💬 "Tuberous sclerosis", "Tuberous sclerosis complex", "TSC" | 129 129 trials | 5 / 35 / 56 / 10 💬 | 56 56 drugs [ 20 20 drugs ] | 35 35 genes | 116 pathways | 1092 1,092人年齢分布
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| 177 | ジュベール症候群関連疾患 [神] 💬 "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 1 trial | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 21 21人年齢分布
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| 201 | アンジェルマン症候群 [神] 💬 "Angelman syndrome" | 33 33 trials | 13 / 12 / 8 / 0 💬 | 32 32 drugs [ 13 13 drugs ] | 22 22 genes | 21 pathways | 29 29人年齢分布
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| 263 | 脳腱黄色腫症 [神] 💬 "Cerebrotendinous xanthomatosis", "CTX", "27-hydroxylase deficiency", "CYP27 deficiency" | 8 8 trials | 1 / 1 / 3 / 0 💬 | 9 9 drugs [ 2 2 drugs ] | 2 2 genes | 3 pathways | 54 54人年齢分布
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| 307 | カナバン病 [神] 💬 "Canavan disease" | 6 6 trials | 3 / 3 / 0 / 0 💬 | 8 8 drugs [ 4 4 drugs ] | 2 2 genes | 2 pathways | - |
| 308 | 進行性白質脳症 [神] 💬 "Progressive leukoencephalopathy", "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Vanishing white matter disease", "Leukoencephalopathy, progressive, with ovarian failure" | 2 2 trials | 1 / 1 / 0 / 0 💬 | 3 3 drugs [ 1 1 drug ] | 5 5 genes | 1 pathway | 22 22人年齢分布
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| 309 | 進行性ミオクローヌスてんかん [神] 💬 "Progressive myoclonus epilepsy", "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME" | 14 14 trials | 1 / 2 / 7 / 0 💬 | 16 16 drugs [ 5 5 drugs ] | 7 7 genes | 16 pathways | 48 48人年齢分布
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| 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 [神] 💬 "Inherited glycosylphosphatidylinositol deficiency", "Inherited GPI deficiency", "IGD", "Congenital glycosylphosphatidylinositol deficiency", "Congenital GPI deficiency" | 3 3 trials | 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 0 - | 2 2人年齢分布
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| 334 | 脳クレアチン欠乏症候群 [神] 💬 "Cerebral creatine deficiency syndrome", "CCDS" | 0 - | 0 - | 0 - | - |
| 342 | LMNB1関連大脳白質脳症 [神] 💬 "LMNB1-related cerebral leukoencephalopathy", "Autosomal dominant adult-onset demyelinating leukodystrophy", "LMNB1-related autosomal dominant leukodystrophy", "ADLD" | 0 - | 0 - | 0 - | - |
| 343 | PURA関連神経発達異常症 [神] 💬 "PURA-related neurodevelopmental disorders", "PURA-NDDs" | 0 - | 0 - | 0 - | - |
| 348 | ロウ症候群 [神] 💬 "Lowe syndrome", "Oculocerebrorenal syndrome of Lowe", "OCRL" | 0 - | 0 - | 0 - | - |