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 |
|---|---|---|---|---|---|
| H02858 | てんかん発作を伴う (伴わない) 言語障害を伴う神経発達障害 | Neurodevelopmental disorder with speech impairment and with or without seizures (NEDSIS) is caused by heterozygous mutations in the CACNA1I gene with a phenotypic spectrum ranging from borderline intellectual ... | 先天奇形 | CACNA1I [HSA:8911] [KO:K04856] | |
| H02859 | てんかん発作および非てんかん性多動性運動を伴う神経発達障害 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is caused by homozygous or compound heterozygous mutations in the CACNA1B gene and is characterized by epileptic ... | 先天奇形 | CACNA1B [HSA:774] [KO:K04849] | |
| H02860 | Gillespie 症候群 | Gillespie syndrome is a rare genetic disorder characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy. It has been reported that mutations ... | 先天奇形 | ITPR1 [HSA:3708] [KO:K04958] | |
| H02861 | てんかん発作を伴う (伴わない) 痙性四肢麻痺および脳異常を伴う神経発達障害 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (NEDSBAS) is caused by homozygous mutations in the WDR45B gene and is characterized by profound developmental ... | 先天奇形 | WDR45B [HSA:56270] [KO:K22991] | |
| H02862 | 多様な脳奇形を伴う (伴わない) 神経発達障害 | Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) is caused by heterozygous mutations in the MAPK8IP3 gene and is characterized by developmental delay and/or intellectual ... | 先天奇形 | MAPK8IP3 [HSA:23162] [KO:K04436] | |
| H02863 | 失調性歩行、言語障害、皮質白質の減少を伴う神経発達障害 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) is a neurodevelopmental syndrome caused by heterozygous mutations in the RAB11B gene. This gene ... | 先天奇形 | RAB11B [HSA:9230] [KO:K07905] | |
| H02864 | 自閉症または痙攣発作を伴う（伴わない）神経発達障害 | Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is caused by heterozygous mutations in the CUL3 gene, which encodes a core component of the ubiquitin E3 ligase complex. Recent studies ... | 先天奇形 | CUL3 [HSA:8452] [KO:K03869] | |
| H02865 | 多動性運動および痙攣発作を伴う(伴わない)神経発達障害 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures (NDHMSD/NDHMSR) is a severe neurodevelopmental condition inherited in either an autosomal dominant or autosomal recessive ... | 神経系疾患 | GRIN1 [HSA:2902] [KO:K05208] | |
| H02866 | 乳酸アシドーシスを伴う遺伝性ミオパチー | Hereditary myopathy with lactic acidosis (HML), also known as myopathy with succinate dehydrogenase and aconitase deficiency, is characterised by childhood-onset early fatigue, dyspnoea and palpitations ... | 先天性代謝異常症 | ISCU [HSA:23479] [KO:K22068] | |
| H02867 | 再発性角膜上皮びらんジストロフィ | Epithelial recurrent erosion dystrophy (ERED) is a rare autosomal dominant disorder that is characterized by recurrent corneal epithelial erosions secondary to impaired epithelial adherence. It has been ... | 神経系疾患 | COL17A1 [HSA:1308] [KO:K07603] | |
| H02868 | ハインツ小体性貧血 | Heinz body anemia can present with symptoms including jaundice, dyspnea, tachycardia, hematuria, fatigue, and even hypotension. Heinz bodies are inclusions of irreversibly denatured hemoglobin attached ... | 血液疾患 |
HBB [HSA:3043] [KO:K13823] HBA1 [HSA:3039] [KO:K13822] HBA2 [HSA:3040] [KO:K13822] |
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| H02869 | 家族性肝細胞腺腫 | Hepatocellular adenoma (HCA) is a rare benign liver tumor characterized by the monoclonal proliferation of hepatocytes. The etiology of HCAs involves hormonal influences and genetic predispositions. The ... | 新生物 | HNF1A [HSA:6927] [KO:K08036] | |
| H02870 | Penttinen 型早期老化症候群 | Premature aging syndrome, Penttinen type (PENTT) is a rare progeroid syndrome characterized by prematurely aged appearance, delayed dental development, acro-osteolysis, diffuse keloid-like lesions, and ... | 先天奇形 | PDGFRB [HSA:5159] [KO:K05089] | |
| H02871 | Lowry-Wood 症候群 | Lowry Wood syndrome (LWS) is a rare autosomal recessive syndrome characterized by multiple epiphyseal dysplasia without spinal involvement and accompanied by microcephaly and intellectual disability. It ... | 先天奇形 | RNU4ATAC [HSA:100151683] [KO:K26388] | |
| H02872 | Kosaki 過成長症候群 | Kosaki overgrowth syndrome (KOGS) is a novel syndrome characterized by skeletal overgrowth. Moreover, various degrees of abnormalities of the connective tissue and central nervous system are also often ... | 先天奇形 | PDGFRB [HSA:5159] [KO:K05089] | |
| H02873 | 後弯肢異形成症 | Kyphomelic dysplasia (KMD) is a rare heterogenous group of skeletal dysplasia, characterized by bowing of the limbs primarily affecting the femora, along with short stature, short and wide iliac wings ... | 先天奇形 | CCN2 [HSA:1490] [KO:K06827] | |
| H02874 |
先天性色素細胞母斑症候群 先天性巨大色素性母斑 |
Congenital melanocytic nevus syndrome (CMNS) is a rare condition characterized by pigmented skin lesions that are usually present at birth and are associated with an increased risk of neurological abnormalities ... | 新生物 |
NRAS [HSA:4893] [KO:K07828] HRAS [HSA:3265] [KO:K02833] |
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| H02875 | 神経皮膚黒色症 | Neurocutaneous melanosis (NCMS) is a rare disorder characterized by multiple or giant congenital nevi [DS:H02874] and excessive proliferation of melanocytes in the leptomeninges and brain parenchyma. Nearly ... | 新生物 | NRAS [HSA:4893] [KO:K07828] | |
| H02876 | Cantu 症候群 | Cantu syndrome is a rare autosomal dominant disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. It has been reported that mutations ... | 先天奇形 | ABCC9 [HSA:10060] [KO:K05033] | |
| H02877 | 緑内障 | Glaucoma is a heterogeneous group of optic neuropathies characterized by a specific pattern of optic nerve degeneration and visual field loss that is usually accompanied by increased intraocular pressure ... | 神経系疾患 |
(GLCC/PACG) COL18A1 [HSA:80781] [KO:K06823] (NTG) OPA1 [HSA:4976] [KO:K17079] (NTG) OPTN [HSA:10133] [KO:K19946] (XFS) LOXL1 [HSA:4016] [KO:K14678] |
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| H02878 | モノソミー7骨髄異形成および白血病症候群 | Monosomy 7 myelodysplasia and leukemia syndrome (M7MLS) is a familial hematologic disorder. Affected individuals have a highly variable clinical course that ranges from mild and transient dyspoietic changes ... | がん |
(M7MLS1) SAMD9L [HSA:219285] [KO:K23949] (M7MLS2) SAMD9 [HSA:54809] [KO:K23949] |
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| H02879 | MIRAGE 症候群 | MIRAGE syndrome is a new form of syndromic adrenal hypoplasia with multifaceted clinical features, including myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and ... | 内分泌代謝疾患 | SAMD9 [HSA:54809] [KO:K23949] | |
| H02880 | 網膜動脈蛇行 | Retinal arterial tortuosity (RATOR) is a rare autosomal dominant disorder characterized by tortuosity of the second and higher order retinal arterioles. It may be asymptomatic but may cause visual loss ... | 先天奇形 | COL4A1 [HSA:1282] [KO:K06237] | |
| H02881 | Jawad 症候群 | Jawad syndrome (JWDS) is a syndromic form of autosomal recessive congenital microcephaly. Clinical features include congenital microcephaly with sharply slopping forehead, moderate to severe intellectual ... | 先天奇形 | RBBP8 [HSA:5932] [KO:K20773] | |
| H02882 | 続発性緑内障を伴う(伴わない)水晶体転位を伴う小球状水晶体および(または)巨大角膜 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma (MSPKA) is an autosomal recessive ocular syndrome. It has been reported that mutations in LTBP2 cause this ... | 先天奇形 | LTBP2 [HSA:4053] [KO:K08023] | |
| H02883 | Sneddon 症候群 | Sneddon syndrome (SNDNS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. It has been reported that mutations in ADA2 ... | 循環器系疾患 | ADA2 [HSA:51816] [KO:K19572] | |
| H02884 | RHYNS 症候群 | RHYNS syndrome is a rare autosomal recessive disorder characterized by retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia. It has been reported that mutations in TMEM67 ... | 先天奇形 | TMEM67 [HSA:91147] [KO:K19348] | |
| H02885 | 筋緊張低下および顔貌異常を伴う神経発達障害 | Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay, intellectual disability, and dysmorphism. GNB2 mutations have been reported to ... | 先天奇形 | GNB2 [HSA:2783] [KO:K04537] | |
| H02886 | てんかん発作、筋緊張低下、脳画像異常を伴う神経発達障害 | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by developmental delay, neonatal- or ... | 先天奇形 | GRM7 [HSA:2917] [KO:K04609] | |
| H02887 | 言語障害および行動異常を伴う神経発達障害 | Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) is characterized by intellectual disability and neurodevelopmental abnormalities, including autism spectrum disorder ... | 先天奇形 | GRIA2 [HSA:2891] [KO:K05198] |