Disease The intractable diseases designated by MHLW, Japan
Diseases : 338 - Clinical trials : 34,520 / Drugs : 19,957 - ( DrugBank : 2,195 ) / Drug target genes : 613 - Drug target pathways : 297
Disease group: Neuromuscular diseases| ID | Disease name [Group] | Clinical trial Phase 1 / 2 / 3 / 4 | Drug [ DrugBank ] | Target gene Target pathway | Domestic patients (1) MHLW, (2) Med expenses recipients (FY2021) |
|---|---|---|---|---|---|
| 1 | Spinal and bulbar muscular atrophy [Neu] 💬 "Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy-Alter-Sung syndrome" | 18 18 trials 1 / 10 / 2 / 1 💬 | 15 15 drugs [ 8 8 drugs ] | 10 10 genes 17 pathways | 1641 (1) 1,223 patients (2) 1,641 patients Age distribution  💬 |
| 2 | Amyotrophic lateral sclerosis [Neu] 💬 "ALS" | 645 645 trials 227 / 290 / 231 / 26 💬 | 589 589 drugs [ 163 163 drugs ] | 150 150 genes 225 pathways | 9968 (1) 9,096 patients (2) 9,968 patients Age distribution  💬 |
| 3 | Spinal muscular atrophy [Neu] 💬 "Myelopathic muscular atrophy", "Spinal muscular atrophy type I", "SMA I", "Werdnig-Hoffman disease", "Spinal muscular atrophy type II", "SMA II", "Dubowitz disease", "Spinal muscular atrophy type III", "SMA III", "Kugelberg-Welander disease", "Spinal muscular atrophy type IV", "SMA IV" | 237 237 trials 106 / 117 / 116 / 28 💬 | 123 123 drugs [ 29 29 drugs ] | 51 51 genes 75 pathways | 929 (1) 712 patients (2) 929 patients Age distribution  💬 |
| 4 | Primary lateral sclerosis [Neu] 💬 "PLS" | 5 5 trials 2 / 2 / 0 / 1 💬 | 13 13 drugs [ 6 6 drugs ] | 13 13 genes 25 pathways | 140 (1) 175 patients (By the research group) (2) 140 patients Age distribution  💬 |
| 5 | Progressive supranuclear palsy [Neu] 💬 "PSP" | 89 89 trials 45 / 42 / 9 / 6 💬 | 107 107 drugs [ 40 40 drugs ] | 65 65 genes 108 pathways | 12557 (1) About 8,100 patients (2) 12,557 patients Age distribution  💬 |
| 6 | Parkinson disease [Neu] 💬 "Disease Parkinson's" | 2,307 2,307 trials 810 / 703 / 607 / 290 💬 | 2,007 2,007 drugs [ 349 349 drugs ] | 188 188 genes 199 pathways | 140473 (1) About 108,800 patients (estimated from Parkinson disease related diseases) (2) 140,473 patients Age distribution  💬 |
| 7 | Corticobasal degeneration [Neu] 💬 "Corticobasal syndrome", "CBD" | 16 16 trials 5 / 3 / 1 / 0 💬 | 28 28 drugs [ 13 13 drugs ] | 9 9 genes 38 pathways | 4517 (1) 3,500 patients (2) 4,517 patients Age distribution  💬 |
| 8 | Huntington disease [Neu] 💬 "Huntington chorea" | 242 242 trials 111 / 134 / 50 / 13 💬 | 205 205 drugs [ 62 62 drugs ] | 85 85 genes 159 pathways | 918 (1) 933 patients (2) 918 patients Age distribution  💬 |
| 9 | Neuroacanthocytosis [Neu] 💬 "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome", "Huntington disease-like 2", "HDL2", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Hallervorden-Spatz syndrome" | 0 - | 0 - | 0 - | 35 (1) Less than 100 patients (By the research group) (2) 35 patients Age distribution  💬 |
| 10 | Charcot-Marie-Tooth disease [Neu] 💬 "CMT", "Charcot-Marie-Tooth disease type 1", "CMT1", "Demyelinating CMT", "Charcot-Marie-Tooth disease type 2", "CMT2", "Axonal CMT", "Intermediate Charcot-Marie-Tooth disease", "CMT-I", "Intermediate CMT" | 41 41 trials 25 / 17 / 24 / 4 💬 | 46 46 drugs [ 9 9 drugs ] | 11 11 genes 15 pathways | 781 (1) 6,250 patients (By the research group) (2) 781 patients Age distribution  💬 |
| 11 | Myasthenia gravis [Neu] 💬 "MG", "Generalized myasthenia gravis", "Generalized MG", "GMG", "Systemic myasthenia gravis", "Systemic MG", "Ocular myasthenia gravis", "Ocular MG", "OMG" | 332 332 trials 110 / 106 / 204 / 29 💬 | 234 234 drugs [ 81 81 drugs ] | 45 45 genes 127 pathways | 25568 (1) 22,998 patients (2) 25,568 patients Age distribution  💬 |
| 12 | Congenital myasthenic syndrome [Neu] 💬 "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" | 5 5 trials 1 / 0 / 0 / 0 💬 | 7 7 drugs [ 3 3 drugs ] | 5 5 genes 13 pathways | 11 (1) Less than 100 patients (By the research group) (2) 11 patients Age distribution  💬 |
| 13 | Multiple sclerosis/Neuromyelitis optica [Neu] 💬 "Multiple sclerosis", "MS", "Neuromyelitis optica", "Neuromyelitis optica spectrum disorder", "NMOSD", "Balo concentric sclerosis", "Baló concentric sclerosis" | 3,340 3,340 trials 996 / 796 / 1256 / 514 💬 | 2,163 2,163 drugs [ 383 383 drugs ] | 241 241 genes 238 pathways | 21967 (1) 17,073 patients (2) 21,967 patients Age distribution  💬 |
| 14 | Chronic inflammatory demyelinating polyneuropathy [Neu] 💬 "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "CIDP", "Multifocal motor neuropathy" | 175 175 trials 46 / 94 / 76 / 14 💬 | 161 161 drugs [ 41 41 drugs ] | 13 13 genes 24 pathways | 5108 (1) 4,633 patients (2) 5,108 patients Age distribution  💬 |
| 15 | Inclusion body myositis [Neu] 💬 | 42 42 trials 31 / 19 / 25 / 5 💬 | 33 33 drugs [ 11 11 drugs ] | 12 12 genes 123 pathways | 756 (1) 1,000 patients (By the research group) (2) 756 patients Age distribution  💬 |
| 16 | Crow-Fukase syndrome [Neu] 💬 "POEMS syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "Takatsuki disease", "PEP syndrome", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome" | 13 13 trials 2 / 7 / 2 / 1 💬 | 14 14 drugs [ 7 7 drugs ] | 4 4 genes 75 pathways | 223 (1) 340 patients (By the research group) (2) 223 patients Age distribution  💬 |
| 17 | Multiple system atrophy [Neu] 💬 "MSA-C", "MSA-P", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome" | 119 119 trials 43 / 40 / 40 / 7 💬 | 138 138 drugs [ 44 44 drugs ] | 59 59 genes 111 pathways | 11255 (1) 11,733 patients (2) 11,255 patients Age distribution  💬 |
| 18 | Spinocerebellar degeneration [Neu] 💬 "SCD", "Spinocerebellar ataxia type I", "SCA1", "Spinocerebellar ataxia type II", "SCA2", "Spinocerebellar ataxia type III", "SCA3", "Machado-Joseph disease", "Spinocerebellar ataxia type VI", "SCA6", "Spinocerebellar ataxia type VII", "SCA7", "Spinocerebellar ataxia type X", "SCA10", "Spinocerebellar ataxia type XII", "SCA12", "Dentatorubural pallidoluysian atrophy", "Dentatorubropallidoluysial atrophy", "DRPLA", "Naito-Koyanagi disease", "Friedreich ataxia", "FRDA", "Ataxia with vitamin E deficiency", "AVED", "Early-onset ataxia with ocular motor ataxia and hypoalbuminemia", "EOAH" | 76 76 trials 20 / 46 / 19 / 5 💬 | 98 98 drugs [ 31 31 drugs ] | 44 44 genes 65 pathways | 26630 (1) 25,447 patients (2) 26,630 patients Age distribution  💬 |
| 22 | Moyamoya disease [Neu] 💬 "Occlusive disease in circle of Willis" | 17 17 trials 3 / 2 / 1 / 3 💬 | 22 22 drugs [ 17 17 drugs ] | 33 33 genes 45 pathways | 13431 (1) 15,177 patients (2) 13,431 patients Age distribution  💬 |
| 23 | Prion disease [Neu] 💬 "Creutzfeldt-Jakob disease", "CJD", "Sporadic Creutzfeldt-Jakob disease", "Sporadic CJD", "sCJD", "Gerstmann-Straussler-Scheinker syndrome", "GSS", "Fatal familial insomnia", "FFI", "Environmentally acquired CJD", "Kuru disease", "Iatrogenic CJD", "iCJD", "Variant CCJD", "vCJD" | 4 4 trials 0 / 1 / 0 / 0 💬 | 5 5 drugs [ 2 2 drugs ] | 0 - | 481 (1) 584 patients (2) 481 patients Age distribution  💬 |
| 24 | Subacute sclerosing panencephalitis [Neu] 💬 "SSPE" | 0 - | 0 - | 0 - | 66 (1) About 100 patients (2) 66 patients Age distribution  💬 |
| 25 | Progressive multifocal leukoencephalopathy [Neu] 💬 "PML", "Leukoencephalopathy, progressive multifocal" | 26 26 trials 3 / 8 / 0 / 2 💬 | 35 35 drugs [ 22 22 drugs ] | 8 8 genes 37 pathways | 88 (1) Less than 100 patients (By the research group) (2) 88 patients Age distribution  💬 |
| 26 | HTLV-1-associated myelopathy [Neu] 💬 "Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy" | 29 29 trials 10 / 15 / 10 / 0 💬 | 47 47 drugs [ 29 29 drugs ] | 34 34 genes 119 pathways | 977 (1) 3,000 patients (By the research group) (2) 977 patients Age distribution  💬 |
| 27 | Idiopathic basal ganglia calcification [Neu] 💬 "IBGC", "Fahr disease", "Familial idiopathic basal ganglia calcification", "FIBGC", "Primary familial brain calcification", "PFBC" | 1 1 trial 0 / 1 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 127 (1) 200 patients (By the research group) (2) 127 patients Age distribution  💬 |
| 29 | Ullrich disease [Neu] 💬 "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy" | 0 - | 0 - | 0 - | 21 (1) About 300 patients (By the research group) (2) 21 patients Age distribution  💬 |
| 30 | Distal myopathy [Neu] 💬 "Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "Distal myopathy with rimmed vacuoles", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy" | 15 15 trials 1 / 5 / 12 / 0 💬 | 17 17 drugs [ 3 3 drugs ] | 1 1 gene 1 pathway | 294 (1) 400 patients (By the research group) (2) 294 patients Age distribution  💬 |
| 31 | Bethlem myopathy [Neu] 💬 "Beth Rem myopathy" | 0 - | 0 - | 0 - | 19 (1) Less than 100 patients (By the research group) (2) 19 patients Age distribution  💬 |
| 32 | Autophagic vacuolar myopathy [Neu] 💬 "Danon disease", "X-linked myopathy with excessive autophagy", "XMEA" | 1 1 trial 1 / 0 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 9 (1) Less than 100 patients (By the research group) (2) 9 patients Age distribution  💬 |
| 33 | Schwartz-Jampel syndrome [Neu] 💬 "Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Schwartz-Jampel syndrome type 1", "SJS type 1", "Schwartz-Jampel syndrome type 2", "SJS type 2", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome" | 0 - | 0 - | 0 - | 1 (1) Less than 100 patients (By the research group) (2) 1 patient Age distribution  💬 |
| 111 | Congenital myopathy [Neu] 💬 "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 11 / 8 / 1 / 2 💬 | 17 17 drugs [ 5 5 drugs ] | 1 1 gene 9 pathways | 351 (1) About 1,000 patients (2) 351 patients Age distribution  💬 |
| 112 | Marinesco-Sjogren syndrome [Neu] 💬 "Hereditary cerebellar ataxia-childhood cataracts" | 0 - | 0 - | 0 - | 5 (1) Less than 100 patients (2) 5 patients Age distribution  💬 |
| 113 | Muscular dystrophy [Neu] 💬 "Dystrophinopathies", "Duchenne muscular dystrophy", "DMD", "Becker muscular dystrophy", "Limb-girdle muscular dystrophy", "Myotilinopathy", "Laminopathy", "Caveolinopathy", "Limb gridle muscular dystrophy 1C", "LGMD1C", "Desminopathy", "Sarcoglycanopathy", "α-dystroglycanopathy", "Congenital muscular dystrophy", "Facioscapulohumeral muscular dystrophy", "Emery-Dreifuss muscular dystrophy", "Oculopharyngeal muscular dystrophy", "Fukuyama-type congenital muscular dystrophy", "FCMD", "Walker-Warburg syndrome", "Muscle-eye-brain disease", "Myotonic dystrophy", "Integrin α7 deficient CMD", "CIntegrin α7 deficient ongenital muscular dystrophy", "Merosin-deficient congenital muscular dystrophy", "Ullrich congenital muscular dystrophy", "Rigid spine syndrome", "Dynamin 2 deficient congenital muscular dystrophy", "Telesonin-deficient congenital muscular dystrophy", "Congenital muscular dystrophy with mitochondrial structural abnormalities" | 646 646 trials 401 / 281 / 275 / 65 💬 | 471 471 drugs [ 105 105 drugs ] | 59 59 genes 170 pathways | 5246 (1) About 25,400 patients (2) 5,246 patients Age distribution  💬 |
| 114 | Non-dystrophic myotonia syndrome [Neu] 💬 "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 1 / 3 / 5 / 0 💬 | 19 19 drugs [ 5 5 drugs ] | 18 18 genes 10 pathways | 23 (1) About 1,000 patients (2) 23 patients Age distribution  💬 |
| 115 | Hereditary periodic paralysis [Neu] 💬 "Hereditary Hypokalemic Periodic Paralysis", "Andersen-Tawil syndrome", "Hereditary Hyperkalemic Periodic Paralysis" | 1 1 trial 1 / 0 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 13 13 genes 7 pathways | 60 (1) About 1,000 patients (2) 60 patients Age distribution  💬 |
| 116 | Atopic myelitis [Neu] 💬 "Idiopathic eosinophilic myelitis" | 0 - | 0 - | 0 - | 47 (1) About 1,000 patients (2) 47 patients Age distribution  💬 |
| 117 | Syringomyelia [Neu] 💬 "Symptomatic syringomyelia", "Asymptomatic syringomyelia", "Syringomyelia with Chiari I malformation", "Syringomyelia with Chiari II malformation", "Syringomyelia without Chiari malformation", "Secondary syringomyelia", "Idiopathic syringomyelia" | 3 3 trials 0 / 2 / 0 / 0 💬 | 5 5 drugs [ 1 1 drug ] | 0 - | 602 (1) About 3,000 patients (2) 602 patients Age distribution  💬 |
| 118 | Myelomeningocele [Neu] 💬 "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele" | 5 5 trials 1 / 1 / 0 / 1 💬 | 7 7 drugs [ 4 4 drugs ] | 2 2 genes 10 pathways | 124 (1) 5.0~6.0 cases occur per 10,000 born (500~600 child patients are born per year) (2) 124 patients Age distribution  💬 |
| 119 | Isaacs syndrome [Neu] 💬 "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis" | 0 - | 0 - | 0 - | 108 (1) About 100 patients (2) 108 patients Age distribution  💬 |
| 120 | Hereditary dystonia [Neu] 💬 "DYT1 dystonia", "DYT2 dystonia", "DYT3 dystonia", "X-linked dystonia-parkinsonism", "Lubag", "DYT4 dystonia", "DYT5 dystonia", "DYT5a dystonia", "DYT5b dystonia", "DYT14 dystonia", "Segawa syndrome", "SS", "Dopa-responsive dystonia", "DRD", "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", "CSE", "DYT10 dystonia", "Episodic kinesigenic dyskinesia 1", "EKD1", "DYT11 dystonia", "Myoclonus-dystonia syndrome", "MDS", "DYT12 dystonia", "Rapid-onset dystonia-parkinsonism", "RDP", "Alternating hemiplegia of childhood", "AHC", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "DYT13 dystonia", "DYT15 dystonia", "DYT16 dystonia", "DYT17 dystonia", "DYT18 dystonia", "Paroxysmal execise-induced dyskinesia", "PED", "DYT19 dystonia", "Episodic kinesigenic dyskinesia 2", "EKD2", "DYT20 dystonia", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "Neurodegeneration with Brain Iron Accumulation 1", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Classical PKAN", "Atypical PKAN", "NBIA1", "Hallervorden-Spatz syndrome", "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration", "Neurodegeneration with Brain Iron Accumulation 2", "Infantile neuroaxonal dystrophy", "INAD", "Classical INAD", "Atypical 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", "FAHN", "Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35" | 26 26 trials 11 / 3 / 18 / 3 💬 | 19 19 drugs [ 3 3 drugs ] | 2 2 genes 2 pathways | 113 (1) About 500 patients (2) 113 patients Age distribution  💬 |
| 121 | Neuroferritinopathy [Neu] 💬 | 0 - | 0 - | 0 - | 2 (1) Less than 100 patients (2) 2 patients Age distribution  💬 |
| 122 | Superficial siderosis [Neu] 💬 "SS", "Classical superficial siderosis", "Classical SS", "Brain table hemosiderosis" | 3 3 trials 0 / 0 / 0 / 0 💬 | 3 3 drugs [ 2 2 drugs ] | 0 - | 198 (1) Less than 100 patients (2) 198 patients Age distribution  💬 |
| 123 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [Neu] 💬 "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" | 0 - | 0 - | 0 - | 5 (1) Less than 100 patients (2) 5 patients Age distribution  💬 |
| 124 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [Neu] 💬 "CADASIL", "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease" | 12 12 trials 10 / 7 / 2 / 2 💬 | 14 14 drugs [ 5 5 drugs ] | 3 3 genes 11 pathways | 187 (1) About 200 patients (2) 187 patients Age distribution  💬 |
| 125 | Hereditary diffuse leukoencephalopathy with spheroid [Neu] 💬 "HDLS", "Hereditary diffuse leukoencephalopathy" | 1 1 trial 0 / 1 / 0 / 0 💬 | 9 9 drugs [ 1 1 drug ] | 0 - | 65 (1) Less than 100 patients (2) 65 patients Age distribution  💬 |
| 126 | Perry syndrome [Neu] 💬 | 0 - | 0 - | 0 - | 5 (1) Less than 100 patients (2) 5 patients Age distribution  💬 |
| 127 | Frontotemporal lobar degeneration [Neu] 💬 "Frontotemporal dementia", "Semantic dementia" | 90 90 trials 32 / 36 / 31 / 8 💬 | 87 87 drugs [ 30 30 drugs ] | 39 39 genes 88 pathways | 1311 (1) About 12,000 patients (2) 1,311 patients Age distribution  💬 |
| 128 | Bickerstaff brainstem encephalitis [Neu] 💬 | 0 - | 0 - | 0 - | 77 (1) Occurrence: About 100 patients per year (2) 77 patients Age distribution  💬 |
| 129 | Acute encephalopathy with biphasic seizures and late reduced diffusion [Neu] 💬 "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy" | 1 1 trial 0 / 1 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 46 (1) About 2,000~7,800 patients (Morbidity rate: 100~200 patients per year) (2) 46 patients Age distribution  💬 |
| 130 | Congenital insensitivity to pain with anhydrosis [Neu] 💬 "CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5" | 0 - | 0 - | 0 - | 42 (1) About 200~300 patients (2) 42 patients Age distribution  💬 |
| 131 | Alexander disease [Neu] 💬 "ALXDRD", "AxD", "Alexander Disease type 1", "ALXDRD1", "AxD1", "Alexander Disease type 2", "ALXDRD2", "AxD2", "Alexander disease type 3", "ALXDRD3", "AxD3" | 4 4 trials 3 / 3 / 4 / 0 💬 | 4 4 drugs [ 1 1 drug ] | 0 - | 46 (1) Less than 100 patients (2) 46 patients Age distribution  💬 |
| 132 | Congenital supranuclear bulbar palsy [Neu] 💬 "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome" | 0 - | 0 - | 0 - | 8 (1) About 100 patients (2) 8 patients Age distribution  💬 |
| 133 | Moebius syndrome [Neu] 💬 "Mobius syndrome", "Möbius syndrome" | 0 - | 0 - | 0 - | 13 (1) About 1,000 patients (2) 13 patients Age distribution  💬 |
| 135 | Aicardi syndrome [Neu] 💬 | 1 1 trial 0 / 1 / 0 / 0 💬 | 9 9 drugs [ 3 3 drugs ] | 0 - | 15 (1) Less than 100 patients (2) 15 patients Age distribution  💬 |
| 136 | Hemimegalencephaly [Neu] 💬 "Unilateral megalencephaly" | 0 - | 0 - | 0 - | 24 (1) Less than 100 patients (2) 24 patients Age distribution  💬 |
| 137 | Focal cortical dysplasia [Neu] 💬 "FCD", "FCD type 1a", "FCD type 1b", "FCD type 1c", "FCD type 2a", "FCD type 2b", "FCD type 3a", "FCD type 3b", "FCD type 3c", "FCD type 3d" | 9 9 trials 0 / 6 / 0 / 0 💬 | 5 5 drugs [ 3 3 drugs ] | 1 1 gene 51 pathways | 72 (1) A few thousand patients (2) 72 patients Age distribution  💬 |
| 138 | Nerve cell migration disorder [Neu] 💬 "Lissencephaly", "Neuronal migration defect", "Classical lissencephaly", "Ectopic gray matter", "Subcortical ectopic gray matter", "Periventricular nodular ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "Porencephaly", "Miller-Dieker syndrome", "Perisylvian polymicrogyria", "X-linked Lissencephaly" | 1 1 trial 0 / 1 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 1 1 gene 106 pathways | 60 (1) About 1,000 patients (2) 60 patients Age distribution  💬 |
| 139 | Congenital cerebral hypomyelination [Neu] 💬 "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", "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" | 10 10 trials 1 / 7 / 0 / 0 💬 | 7 7 drugs [ 2 2 drugs ] | 2 2 genes 2 pathways | 38 (1) About 200 patients (2) 38 patients Age distribution  💬 |
| 140 | Dorabe syndrome [Neu] 💬 "Dravet syndrome" | 116 116 trials 46 / 25 / 80 / 11 💬 | 65 65 drugs [ 17 17 drugs ] | 50 50 genes 64 pathways | 67 (1) About 3,000 patients (2) 67 patients Age distribution  💬 |
| 141 | Mesial temporal lobe epilepsy with hippocampal sclerosis [Neu] 💬 "Medial temporal lobe epilepsy with hippocampal sclerosis", "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis", "Medial temporal lobe epilepsy" | 1 1 trial 1 / 1 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 73 (1) About 5,000 patients (2) 73 patients Age distribution  💬 |
| 142 | Myoclonic absence epilepsy [Neu] 💬 | 0 - | 0 - | 0 - | 4 (1) Less than 100 patients (2) 4 patients Age distribution  💬 |
| 143 | Epilepsy with myoclonic-atonic seizure [Neu] 💬 "Epilepsy with myoclonic cataplexy" | 0 - | 0 - | 0 - | 22 (1) Less than 100 patients (2) 22 patients Age distribution  💬 |
| 144 | Lennox-Gastaut syndrome [Neu] 💬 | 111 111 trials 35 / 17 / 79 / 8 💬 | 72 72 drugs [ 14 14 drugs ] | 49 49 genes 61 pathways | 282 (1) [Disease ID 144-148 total] About 4,300 patients (2) 282 patients Age distribution  💬 |
| 145 | West syndrome [Neu] 💬 "Infantile spasm" | 43 43 trials 16 / 15 / 18 / 9 💬 | 52 52 drugs [ 15 15 drugs ] | 28 28 genes 26 pathways | 229 (1) [Disease ID 144-148 total] About 4,300 patients (2) 229 patients Age distribution  💬 |
| 146 | Ohtahara syndrome [Neu] 💬 "Early infantile epileptic encephalopathy with suppression burst" | 0 - | 0 - | 0 - | 20 (1) [Disease ID 144-148 total] About 4,300 patients (2) 20 patients Age distribution  💬 |
| 147 | Early myoclonic encephalopathy [Neu] 💬 | 0 - | 0 - | 0 - | 10 (1) [Disease ID 144-148 total] About 4,300 patients (2) 10 patients Age distribution  💬 |
| 148 | Epilepsy of infancy with migrating focal seizure [Neu] 💬 "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy" | 0 - | 0 - | 0 - | 21 (1) [Disease ID 144-148 total] About 4,300 patients (2) 21 patients Age distribution  💬 |
| 149 | Hemiconvulsion hemiplegia epilepsy syndrome [Neu] 💬 "One side convulsions", "Hemiplegia", "Epilepsy syndrome" | 25 25 trials 3 / 4 / 8 / 3 💬 | 35 35 drugs [ 13 13 drugs ] | 16 16 genes 22 pathways | 33 (1) Less than 100 patients (2) 33 patients Age distribution  💬 |
| 150 | Ring chromosome 20 epilepsy syndrome [Neu] 💬 "Ring chromosome 20 syndrome" | 0 - | 0 - | 0 - | 15 (1) Less than 100 patients (2) 15 patients Age distribution  💬 |
| 151 | Rasmussen encephalitis [Neu] 💬 | 1 1 trial 0 / 1 / 1 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 5 5 genes 33 pathways | 46 (1) Less than 100 patients (2) 46 patients Age distribution  💬 |
| 152 | PCDH19 related syndrome [Neu] 💬 "PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19-related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy" | 10 10 trials 5 / 5 / 5 / 1 💬 | 7 7 drugs [ 1 1 drug ] | 16 16 genes 7 pathways | 13 (1) Less than 100 patients (2) 13 patients Age distribution  💬 |
| 153 | Acute encephalitis with refractory, repetitive partial seizure [Neu] 💬 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" | 0 - | 0 - | 0 - | 55 (1) About 100 patients (2) 55 patients Age distribution  💬 |
| 154 | Epilepsy with continuous spikes and waves during slow sleep [Neu] 💬 "Epileptic encephalopathy with continuous spike-and-wave during sleep" | 7 7 trials 0 / 7 / 0 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 13 13 genes 7 pathways | 27 (1) [Disease ID 154-155 total] About 400 patients (2) 27 patients Age distribution  💬 |
| 155 | Acquired aphasia with convulsive disorder [Neu] 💬 "Landau-Kleffner syndrome" | 1 1 trial 0 / 1 / 1 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 29 29 genes 14 pathways | 8 (1) [Disease ID 154-155 total] About 400 patients (2) 8 patients Age distribution  💬 |
| 156 | Rett syndrome [Neu] 💬 "Typical Rett syndrome", "Atypical Rett syndrome" | 44 44 trials 4 / 24 / 16 / 0 💬 | 61 61 drugs [ 23 23 drugs ] | 57 57 genes 83 pathways | 98 (1) About 1,000 patients (2) 98 patients Age distribution  💬 |
| 157 | Sturge-Weber syndrome [Neu] 💬 "Síndrome de Sturge-Weber" | 10 10 trials 3 / 6 / 1 / 1 💬 | 13 13 drugs [ 4 4 drugs ] | 5 5 genes 63 pathways | 77 (1) About 1,000 patients (2) 77 patients Age distribution  💬 |
| 158 | Tuberous sclerosis [Neu] 💬 "Tuberous sclerosis complex" | 112 112 trials 49 / 40 / 55 / 17 💬 | 71 71 drugs [ 19 19 drugs ] | 35 35 genes 118 pathways | 925 (1) About 4,000~12,000 patients (2) 925 patients Age distribution  💬 |
| 159 | Xeroderma pigmentosum [Neu] 💬 "XP", "XP-A", "XP-B", "XP-C", "XP-D", "XP-E", "XP-F", "XP-G", "XP-V" | 11 11 trials 1 / 8 / 1 / 0 💬 | 17 17 drugs [ 5 5 drugs ] | 5 5 genes 15 pathways | 86 (1) About 300~600 patients (2) 86 patients Age distribution  💬 |
| 177 | Joubert syndrome related disorder [Neu] 💬 "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 - | 11 (1) Less than 100 patients (2) 11 patients Age distribution  💬 |
| 201 | Angelman syndrome [Neu] 💬 | 25 25 trials 9 / 8 / 5 / 0 💬 | 40 40 drugs [ 11 11 drugs ] | 22 22 genes 20 pathways | 30 (1) 500~1,000 patients (2) 30 patients Age distribution  💬 |
| 307 | Canavan disease [Neu] 💬 | 6 6 trials 3 / 3 / 0 / 0 💬 | 11 11 drugs [ 5 5 drugs ] | 2 2 genes 2 pathways | 1 (1) A few patients (2) 1 patient Age distribution  💬 |
| 308 | Progressive leukoencephalopathy [Neu] 💬 "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure" | 0 - | 0 - | 0 - | 20 (1) Less than 100 patients (2) 20 patients Age distribution  💬 |
| 309 | Progressive myoclonus epilepsy [Neu] 💬 "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME" | 11 11 trials 0 / 0 / 6 / 0 💬 | 15 15 drugs [ 2 2 drugs ] | 4 4 genes 9 pathways | 41 (1) About 3,000 patients (2) 41 patients Age distribution  💬 |
| 320 | Inherited glycosylphosphatidylinositol deficiency [Neu] 💬 "Inherited GPI deficiency", "IGD", "Congenital glycosylphosphatidylinositol deficiency", "Congenital GPI deficiency" | 3 3 trials 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 0 - | (1) Less than 100 patients (2) - |
| 334 | Cerebral creatine deficiency syndrome [Neu] 💬 "CCDS" | 0 - | 0 - | 0 - | (1) Less than 100 patients (2) - |