KEGG MEDICUS 疾患情報 |
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| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
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| H01807 | 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 spheroids (HDLS) is an autosomal dominant central nervous system disease with variable clinical presentations, including personality and behavioral changes, ... | 神経変性疾患 |
(HDLS1) CSF1R [HSA:1436] [KO:K05090] (HDLS2) AARS1 [HSA:16] [KO:K01872] |
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| H01808 | 片側痙攣・片麻痺・てんかん症候群 | Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare condition involving sudden and prolonged unilateral seizures in infancy and early childhood, followed by hemiplegia. The prolonged focal motor ... | 神経系疾患 | CACNA1A [HSA:773] [KO:K04344] | |
| H01809 | スタージ・ウェーバー症候群 | Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain (PWS) involving the first division of the trigeminal nerve, ipsilateral leptomeningeal ... | 先天奇形 | GNAQ [HSA:2776] [KO:K04634] | |
| H01810 | 先天性ミオパチー | The congenital myopathies are a group of genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital ... | 神経系疾患; 筋骨格疾患 |
(CMYO1A/1B) RYR1 [HSA:6261] [KO:K04961] (CMYO2A/2B/2C) ACTA1 [HSA:58] [KO:K10354] (CMYO3) SELENON [HSA:57190] [KO:K19874] (CMYO4) TPM3 [HSA:7170] [KO:K09290] (CMYO5) TTN [HSA:7273] [KO:K12567] (CMYO6) MYH2 [HSA:4620] [KO:K24220] (CMYO7) MYH7 [HSA:4625] [KO:K17751] (CMYO8) ACTN2 [HSA:88] [KO:K21073] (CMYO9A/9B) FXR1 [HSA:8087] [KO:K15516] (CMYO10A/10B) MEGF10 [HSA:84466] [KO:K24068] (CMYO11) HACD1 [HSA:9200] [KO:K10703] (CMYO12) CNTN1 [HSA:1272] [KO:K06759] (CMYO13) STAC3 [HSA:246329] [KO:K23713] (CMYO14) MYL1 [HSA:4632] [KO:K05738] (CMYO15) TNNC2 [HSA:7125] [KO:K12042] (CMYO16) MYBPC1 [HSA:4604] [KO:K12557] (CMYO17) MYOD1 [HSA:4654] [KO:K09064] (CMYO18) CACNA1S [HSA:779] [KO:K04857] (CMYO19) PAX7 [HSA:5081] [KO:K09381] (CMYO20) RYR3 [HSA:6263] [KO:K04963] (CMYO21) DNAJB4 [HSA:11080] [KO:K09510] (CMYO22A/22B) SCN4A [HSA:6329] [KO:K04837] (CMYO23) TPM2 [HSA:7169] [KO:K10374] (CMYO24) MYPN [HSA:84665] [KO:K22028] (CMYO25) JPH1 [HSA:56704] [KO:K19530] (CMYO26) TUBA4A [HSA:7277] [KO:K07374] (CMYO27) PACSIN3 [HSA:29763] [KO:K20123] (CMYO28) HMGCS1 [HSA:3157] [KO:K01641] (CMND) SPTBN4 [HSA:57731] [KO:K06115] |
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| H01811 | 有馬症候群 | Arima syndrome (AS) is a rare autosomal recessive disease characterized by severe psychomotor retardation, dysmorphic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation. AS shares ... | 先天奇形 | ||
| H01812 |
ラスムッセン脳炎 ラスムッセン症候群 |
Rasmussen encephalitis is a rare chronic neurological disorder, characterised by unilateral inflammation of the cerebral cortex, drug-resistant epilepsy, and progressive neurological and cognitive deterioration ... | 免疫系疾患; 神経系疾患 |
CTLA4 (polymorphism) [HSA:1493] [KO:K06538] PDCD1 (polymorphism) [HSA:5133] [KO:K06744] |
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| H01813 | レノックス・ガストー症候群 | Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy characterized by multiple seizure types, typical findings in the electroencephalogram (EEG), and delayed psychomotor development. Tonic seizures ... | 神経系疾患 | MAPK10 [HSA:5602] [KO:K04440] | |
| H01814 | Stromme 症候群 | Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly, and developmental delay. It is an autosomal-recessive disease ... | 先天奇形 | (STROMS) CENPF [HSA:1063] [KO:K11499] | |
| H01815 | 遊走性焦点発作を伴う乳児てんかん | Malignant migrating partial seizures in infancy (MMPSI) are rare, severe early infantile onset epileptic encephalopathy. The common clinical features are seizure onset within the first 6 months of life ... | 神経系疾患 |
PLCB1 [HSA:23236] [KO:K05858] TBC1D24 [HSA:57465] [KO:K21841] KCNT1 [HSA:57582] [KO:K04946] SLC12A5 [HSA:57468] [KO:K23967] SCN1A [HSA:6323] [KO:K04833] |
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| H01816 | Frank-ter Haar 症候群 | Frank Ter Haar syndrome (FTHS) is a rare skeletal dysplasia with classical features like megalocornea, finger flexion deformities, prominent coccyx and heart defects. The main characteristics are brachycephaly ... | 先天奇形 | SH3PXD2B [HSA:285590] [KO:K24032] | |
| H01817 | Beukes 型股関節形成不全 | Beukes hip dysplasia (BHD) is an autosomal dominant disorder characterised by bilateral dysmorphism of the proximal femur, which results in severe degenerative osteoarthropathy. Pain develops in the hip ... | 先天奇形 | UFSP2 [HSA:55325] [KO:K01376] | |
| H01818 | ドラベ症候群 | The Dravet syndrome is a rare form of epileptic encephalopathy, and is accompanied by impaired psychomotor and neurologic development, occurring in the first year of life in apparently normal infants. ... | 神経系疾患 | SCN1A [HSA:6323] [KO:K04833] | |
| H01819 | 早期ミオクロニー脳症 | Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, onset before 3 months of age, and persistent suppression-burst pattern ... | 神経系疾患 |
SLC25A22 [HSA:79751] [KO:K15107] SIK1 [HSA:150094] [KO:K19008] SLC1A2 [HSA:6506] [KO:K05613] CDKL5 [HSA:6792] [KO:K08824] |
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| H01820 | カーニー複合 | Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine tumors. Further manifestations ... | 内分泌代謝疾患 |
(CNC/CM) PRKAR1A [HSA:5573] [KO:K04739] (variant) MYH8 [HSA:4626] [KO:K24220] |
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| H01821 | 錐体・杆体ジストロフィーを伴う脊椎骨幹端異形成 | Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD) is a rare presumed autosomal-recessive disorder with postnatal growth deficiency leading to profound short stature; rhizomelia with bowing ... | 先天奇形 | PCYT1A [HSA:5130] [KO:K00968] | |
| H01822 | ミオクロニー欠神てんかん | Epilepsy with myoclonic absences (EMA) is characterized clinically by rhythmic and bilateral jerks of the limbs of severe intensity, often associated with a progressive tonic contraction. The diagnosis ... | 神経系疾患 | ||
| H01823 |
ミオクロニー脱力発作を伴うてんかん ドーゼ症候群 |
Myoclonic astatic epilepsy (MAE), also known as Doose syndrome, is a generalized epilepsy syndrome of young children that includes multiple different seizure types, of which myoclonic and astatic seizures ... | 神経系疾患 | ||
| H01824 | CODAS (脳・眼・歯・耳介・骨格) 症候群 | CODAS (cerebral, ocular, dental, auricular, skeletal anomalies) syndrome is a rare multiple congenital anomalies syndrome. The anomalies referred to in the acronym are as follows: cerebral-developmental ... | 先天奇形 | LONP1 [HSA:9361] [KO:K08675] | |
| H01825 | Sedaghatian 型脊椎骨幹端異形成症 | Sedaghatian type spondylometaphyseal dysplasia (SMDS) is a rare type of lethal congenital severe spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening ... | 先天奇形 | GPX4 [HSA:2879] [KO:K05361] | |
| H01826 | 海馬硬化を伴う内側側頭葉てんかん | Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a group of chronic disorders characterized by prominent neuronal loss and gliosis in the hippocampus and amygdala. MTLE-HS is restricted ... | 神経系疾患 | ||
| H01827 | ローランドてんかん、精神遅滞および発語失行 | Rolandic epilepsy is the most frequent childhood focal epilepsy. Mutations in GRIN2A has been detected in atypical rolandic epilepsy associated with verbal dyspraxia or with dysphasia. Recently, SRPX2 ... | 神経系疾患 |
GRIN2A [HSA:2903] [KO:K05209] SRPX2 [HSA:27286] [KO:K19408] |
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| H01828 | 成熟遅延骨異形成症 | Opsismodysplasia (OPS) is a rare, autosomal-recessive skeletal dysplasia primarily characterized by growth plate defects and delayed bone maturation. Its clinical features are rhizomelic micromelia and ... | 先天奇形 | INPPL1 [HSA:3636] [KO:K15909] | |
| H01829 | 難治頻回部分発作重積型急性脳炎 | Acute encephalitis with refractory, repetitive partial seizures (AERRPS) is a new epileptic syndrome mainly affecting children. AERRPS has not been perceived in Western countries, although it is widely ... | 神経系疾患 | ||
| H01830 | Megarbane-Dagher-Melki 型脊椎骨幹端異形成症 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM) is a rare, autosomal-recessive lethal skeletal dysplasia characterized pre and postnatal growth retardation, developmental delay, large ... | 先天奇形 | PAM16 [HSA:51025] [KO:K17805] | |
| H01831 | 環状２０番染色体症候群 | Ring chromosome 20 syndrome is a chromosomal disorder that is characterized by mild to moderate intellectual disability and epilepsy, in the absence of significant diagnostic dysmorphic features. In most ... | 染色体異常 | ||
| H01832 | Lenz-Majewski 症候群 | Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism, is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct ... | 先天奇形 | PTDSS1 [HSA:9791] [KO:K08729] | |
| H01833 | 片側巨脳症 | Hemimegalencephaly is a rare brain malformation caused by anomalous neuronal and glial proliferation or differentiation, with an abnormally enlarged and dysplastic hemisphere. It can occur as an isolated ... | 先天奇形 | ||
| H01834 | Marshall-Smith 症候群 | Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual ... | 先天奇形 | NFIX [HSA:4784] [KO:K09171] | |
| H01835 | 神経細胞移動異常症 | Neuronal migration disorders (NMD) are developmental malformations of the cerebral hemispheres, frequently associated with severe epilepsy. They can be defined as cerebral malformations characterised by ... | 先天奇形 | ||
| H01836 | 先天性無痛無汗症 | Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, is a rare autosomal recessive disorder characterized by recurrent episodes of ... | 神経系疾患 | NTRK1 [HSA:4914] [KO:K03176] |