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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| H02828 | 耳硬化症 | Otosclerosis (OTSC) is a common cause of adult-onset progressive hearing loss. It results from dysregulation of bone homeostasis in the otic capsule, most commonly leading to fixation of the stapes bone ... | 神経系疾患 |
(OTSC11) FOXL1 [HSA:2300] [KO:K09405] (OTSC12) SMARCA4 [HSA:6597] [KO:K11647] |
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| H02829 | 関節炎と血管炎を伴う自己炎症 | Autoinflammation with arthritis and vasculitis (AIARV) is an early-onset chronic and systemic autoinflammation. It has been reported that mutations in TBK1 cause this syndrome. TBK1 encodes TANK binding ... | 免疫系疾患 | TBK1 [HSA:29110] [KO:K05410] | |
| H02830 | 動脈蛇行・骨脆弱症候群 | Arterial tortuosity-bone fragility syndrome (ATBFS) is a novel cutis laxa syndrome characterized by arterial tortuosity, aneurysm formation, and osteopenia. It has been reported that loss-of-function mutations ... | 先天奇形 | EMILIN1 [HSA:11117] [KO:K24246] | |
| H02831 | 急性一過性脳症 | Acute transient encephalopathy (ENPAT) is a novel disease characterized by recurrent reversible encephalopathy accompanied by acute febrile or afebrile illness. The patient brains displayed substantial ... | 神経系疾患 | ABCB1 [HSA:5243] [KO:K05658] | |
| H02832 | チアミン代謝異常症候群 | Thiamine metabolism dysfunction syndrome (THMD) is a group of rare autosomal recessive encephalopathies caused by deficiencies of thiamine metabolism. Four genes, SLC19A3, SLC25A19, SLC19A2, and TPK1, ... | 先天性代謝異常症 |
(THMD1) SLC19A2 [HSA:10560] [KO:K14610] (THMD2) SLC19A3 [HSA:80704] [KO:K14610] (THMD3_4) SLC25A19 [HSA:60386] [KO:K15108] (THMD5) TPK1 [HSA:27010] [KO:K00949] |
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| H02833 | Brain malformation renal syndrome | Brain malformation renal syndrome (BMRS) is a novel syndrome characterized by Dandy-Walker malformation, kidney disease, and bone marrow failure. It has been reported that mutations in EXOC3L2 cause this ... | 先天奇形 | EXOC3L2 [HSA:90332] [KO:K19988] | |
| H02834 | Kariminejad-Reversade 神経発達症候群 | Kariminejad-Reversade neurodevelopmental syndrome (KAREVS) is a novel syndrome characterized by progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual disability. It has been ... | 先天奇形 | RBSN [HSA:64145] [KO:K12481] | |
| H02835 | 貧血、好中球減少症、成長遅滞および眼球異常を伴う先天性骨髄線維症 | Congenital myelofibrosis with anemia, neutropenia, developmental delay, and ocular abnormalities (MFANDO) is a rare syndromic congenital myelofibrosis caused by mutations in RBSN. RBSN encodes rabenosyn ... | 血液疾患 | RBSN [HSA:64145] [KO:K12481] | |
| H02836 | 気管支拡張症および鼻茸 | Bronchiectasis and nasal polyposis (BENP) is a novel chronic destructive airway disease characterized by bronchiectasis throughout all lung fields (upper, middle, and lower lobes) and severe chronic rhinosinusitis ... | 呼吸器系疾患 | WFDC2 [HSA:10406] [KO:K23636] | |
| H02837 | Karayol-Borroto-Haghshenas 神経発達症候群 | Karayol-Borroto-Haghshenas neurodevelopmental syndrome (KBHS) is a novel neurodevelopmental disorder with intellectual disability, developmental delay, motor issues, seizures, dysmorphisms, and a specific ... | 先天奇形 | MSL2 [HSA:55167] [KO:K13164] | |
| H02838 | 家族性高胆汁性貧血を伴う神経発達障害 | Neurodevelopmental disorder with variable familial hypercholanemia (NEDFHCA) is a novel syndrome caused by mutations in WDR83OS. Clinical features include neurodevelopmental disorder, facial dysmorphism ... | 先天奇形 | WDR83OS [HSA:51398] [KO:K24963] | |
| H02839 | 視神経萎縮症と脳の異常を伴う乳児期発症神経変性症 | Infantile-onset neurodegeneration with optic atrophy and brain abnormalities (NDOABA) is a novel syndrome characterized by global developmental delay, severe intellectual disability, hypotonia, limb spasticity ... | 神経系疾患 | BORCS8 [HSA:729991] [KO:K20822] | |
| H02840 | Morimoto-Ryu-Malicdan 神経筋症候群 | Morimoto-Ryu-Malicdan neuromuscular syndrome (MRMNS) is a novel multisystemic disorder characterized by incoordination and muscle weakness, hearing impairment, and decreased body weight. It has been reported ... | 神経系疾患 | RFC4 [HSA:5984] [KO:K10755] | |
| H02841 | 水腫・乳酸アシドーシスおよび鉄芽球性貧血 | Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is a severe multisystem metabolic disorder caused by mutations in LARS2. LARS2 encodes mitochondrial leucyl-tRNA synthetase, which is responsible ... | 先天性代謝異常症 | LARS2 [HSA:23395] [KO:K01869] | |
| H02842 | Pan-Chung-Bellen 症候群 | Pan-Chung-Bellen syndrome (PCBS) is a novel syndrome characterized by developmental delay, intellectual disability, and dysmorphic features. It has been reported that mutations in FRYL cause this syndrome ... | 先天奇形 | FRYL [HSA:285527] [KO:K27804] | |
| H02843 | TRiCの機能障害による脳奇形とてんかん発作 | Brain malformations and seizures by impaired function of TRiC is a novel group of disorders in the development of the central nervous system. They are caused by mutations in genes that encode subunits ... | 先天奇形 |
(IDDPMGS) TCP1 [HSA:6950] [KO:K09493] (NEDSVH) CCT3 [HSA:7203] [KO:K09495] |
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| H02844 | 掌蹠角化症および先天性脱毛症 | Palmoplantar keratoderma and congenital alopecia (PPKCA) is a rare autosomal dominant disorder characterized by severe skin hyperkeratosis, congenital alopecia and leukonychia totalis. It has been reported ... | 先天奇形 | GJA1 [HSA:2697] [KO:K07372] | |
| H02845 | 脳の動静脈奇形 | Arteriovenous malformations of the brain are morphologically abnormal connections between arteries and veins in the brain vasculature. They are leading causes of hemorrhagic stroke in young adults and ... | 先天奇形 | KRAS [HSA:3845] [KO:K07827] | |
| H02846 | 全般的発達遅滞・進行性運動失調症およびグルタミン上昇 | Global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) is an inborn error of metabolism caused by an expansion of a GCA-repeat tract in the 5' untranslated region of the gene encoding ... | 先天性代謝異常症 | GLS [HSA:2744] [KO:K01425] | |
| H02847 |
CASGID 症候群 乳児白内障・皮膚の異常・グルタミン酸過剰および知的発達障害 |
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (CASGID) is an inborn error of metabolism caused by a glutaminase (GLS) hyperactivity variant, the enzyme ... | 先天性代謝異常症 | GLS [HSA:2744] [KO:K01425] | |
| H02848 | 心臓リアノジン受容体のカルシウム放出異常による心室性不整脈症候群 | Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) is a previously unknown disease entity characterized by sudden cardiac death with normal exercise ... | 循環器系疾患 | RYR2 [HSA:6262] [KO:K04962] | |
| H02849 | 家族性自然短眠 | Familial natural short sleep (FNSS) is a rare genetic trait characterized by the ability to sleep 4-6.5 hours per night without experiencing daytime sleepiness or significant impairments. Mutations in ... | 神経系疾患 |
(FNSS1) BHLHE41 [HSA:79365] [KO:K03730] (FNSS2) ADRB1 [HSA:153] [KO:K04141] (FNSS3) NPSR1 [HSA:387129] [KO:K08376] |
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| H02850 | TIMES 症候群 | TIMES syndrome is a novel multisystem disorder characterized by telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. It has been ... | 先天奇形 | LRRC8C [HSA:84230] [KO:K22038] | |
| H02851 | Muggenthaler-Chowdhury-Chioza 症候群 | Muggenthaler-Chowdhury-Chioza syndrome (MCCS) is a novel syndrome characterized by orofacial clefting, facial dysmorphism, congenital heart disease, and ocular abnormalities. It has been reported that ... | 先天奇形 | HYAL2 [HSA:8692] [KO:K01197] | |
| H02852 | 片側性(または両側性)孤発性潜在眼球症 | Unilateral or bilateral isolated cryptophthalmos (CRYPTOP) is a rare congenital disorder characterized by ocular dysplasia with eyelid malformation. It has been reported that mutations in FREM2 cause isolated ... | 先天奇形 | FREM2 [HSA:341640] [KO:K23380] | |
| H02853 | Teebi 両眼隔離症候群 | Teebi hypertelorism syndrome (TBHS) is a rare craniofacial disorder characterized by hypertelorism, prominent forehead, short nose with broad or depressed nasal root. Some cases of TBHS have been attributed ... | 先天奇形 |
(TBHS1) SPECC1L [HSA:23384] [KO:K23028] (TBHS2) CDH11 [HSA:1009] [KO:K06803] |
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| H02854 | Okur-Chung 神経発達症候群 | Okur-Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, and multisystemic abnormalities. It has been reported ... | 先天奇形 | CSNK2A1 [HSA:1457] [KO:K03097] | |
| H02855 | Shashi-Pena 症候群 | Shashi-Pena syndrome (SHAPNS) is characterized by distinctive facial features accompanied by variable further clinical findings. Dental anomalies may include early eruption and loss of teeth as well as ... | 先天奇形 | ASXL2 [HSA:55252] [KO:K11471] | |
| H02856 | てんかん発作を伴う (伴わない) 筋緊張低下、言語遅延および骨格異常を伴う神経発達障害 | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) is caused by heterozygous missense mutations in the CACNA1C gene and is characterized ... | 先天奇形 | CACNA1C [HSA:775] [KO:K04850] | |
| H02857 | 小頭症および脳の構造異常を伴う神経発達障害 | Neurodevelopmental disorder with microcephaly and structural brain anomalies (NEDMIBA) is an autosomal recessive syndromic microcephaly with intellectual disability, cerebral malformations, and dysmorphic ... | 先天奇形 | DYNC1I2 [HSA:1781] [KO:K10415] |