| 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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H02948
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遺伝性好中球増加症
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Hereditary neutrophilia is a rare genetic immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors ...
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免疫系疾患
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CSF3R [HSA:1441] [KO:K05061]
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H02949
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Robinow-Sorauf 症候群
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Robinow-Sorauf syndrome is an autosomal dominant syndrome characterized by craniosynostosis and duplication of the hallux. It has been reported that mutations in TWIST1 cause this syndrome. TWIST1 encodes ...
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先天奇形
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TWIST1 [HSA:7291] [KO:K09069]
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H02950
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脊椎骨端異形成・感音性難聴・知的発達障害およびレーバー先天性黒内障
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Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis (SHILCA) is a novel autosomal recessive multiple systemic disorder. It has been ...
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先天奇形
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NMNAT1 [HSA:64802] [KO:K06210]
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H02951
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嚢胞腎を伴う脳室拡大
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Ventriculomegaly with cystic kidney disease (VMCKD) is a novel syndrome characterized by greatly elevated maternal serum alpha-fetoprotein and/or amniotic fluid alpha-fetoprotein levels, cerebral ventriculomegaly ...
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先天奇形
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CRB2 [HSA:286204] [KO:K16681]
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H02952
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常染色体劣性遺伝性レーバー様視神経症
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Leber hereditary optic atrophy (LHON) [DS:H00068] is an ophthalmological disorder, characterized by acute or subacute bilateral optic atrophy that results in the loss of central vision. LHON is generally ...
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神経系疾患
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(LHONAR1) DNAJC30 [HSA:84277] [KO:K19374]
(LHONAR2) NDUFS2 [HSA:4720] [KO:K03935]
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H02953
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ウルグァイ顔心筋骨格症候群
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Uruguay facio-cardio-musculo-skeletal syndrome (FCMSU) is an X-linked recessive syndrome characterized by pugilistic facies, skeletal deformities, and muscular hypertrophy despite a lack of exercise and ...
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先天奇形
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FHL1 [HSA:2273] [KO:K14365]
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H02954
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多発性脂腺嚢腫
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Steatocystoma multiplex is a rare disorder characterized by multiple, asymptomatic, yellow-coloured to skin-coloured cystic lesions localised mainly to the arms, chest, axillae and neck. It is an autosomal ...
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新生物
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KRT17 [HSA:3872] [KO:K07604]
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H02955
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白内障・脱毛・口腔粘膜疾患および乾癬様症候群
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Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome (CAOP) is a rare autosomal recessive disorder characterized by early-onset bilateral lens cataract, generalized nonscarring alopecia ...
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先天奇形
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MBTPS1 [HSA:8720] [KO:K08653]
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H02956
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Gillessen-Kaesbach-Nishimura 症候群
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Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) is a rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations. It has been reported that mutations ...
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先天性代謝異常症
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ALG9 [HSA:79796] [KO:K03846]
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H02957
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ICHAD 症候群
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ICHAD syndrome is a novel disorder characterized by immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay. It has been reported that dominant negative variants ...
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免疫系疾患
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IKZF2 [HSA:22807] [KO:K09220]
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H02958
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様々な免疫不全と自己免疫を伴う免疫調節障害
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Immunodysregulation with variable immunodeficiency and autoimmunity (IMDIA) is a combined immunodeficiency characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic ...
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免疫系疾患
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IKZF2 [HSA:22807] [KO:K09220]
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H02959
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Li-Takada-Miyake 症候群
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Li-Takada-Miyake syndrome (LTMS) is a novel syndrome characterized by prenatal-onset growth impairment, microcephaly, characteristic face, situs inversus, and developmental delay. It has been reported ...
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先天奇形
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GON4L [HSA:54856] [KO:K23804]
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H02960
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アミロイド血管症を伴わない常染色体優性遺伝性成人発症白質脳症
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Autosomal dominant adult-onset leukodystrophy without amyloid angiopathy (ADLDWA) is a novel adult onset leukodystrophy caused by truncating mutations in CST3. The main manifestations include recurrent ...
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神経系疾患
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CST3 [HSA:1471] [KO:K13899]
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H02961
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Guillouet-Gordon 症候群
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Guillouet-Gordon syndrome (GGNS) is a novel multiple congenital anomalies-intellectual disability syndrome characterized by intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations ...
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先天奇形
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MED16 [HSA:10025] [KO:K15159]
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H02962
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言語障害と早期発症ドーパミン反応性ジストニア・パーキンソニズム
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Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism (IDLDP) is a novel autosomal-dominant syndrome caused by NR4A2 mutations. NR4A2 encodes ...
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神経系疾患
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NR4A2 [HSA:4929] [KO:K08558]
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H02963
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痙縮を伴うX連鎖性パーキンソニズム
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X-linked parkinsonism with spasticity (XPDS) is a familial parkinsonian disorder that presents either as typical adult onset Parkinson disease or earlier onset spasticity followed by parkinsonism. It has ...
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神経系疾患
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ATP6AP2 [HSA:10159] [KO:K19514]
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H02964
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乳幼児突然死症候群
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Sudden infant death syndrome (SIDS) is defined as sudden and unanticipated death in an infant with no recognized lethal disorder after an investigation that includes autopsy, examination of the death scene ...
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循環器系疾患
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SCN5A [HSA:6331] [KO:K04838]
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H02965
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Hoxha-Aliu 症候群
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Hoxha-Aliu syndrome (HXAL) is an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities, and cardiac malformation. Mutations in ERI1 have been reported to be associated ...
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先天奇形
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ERI1 [HSA:90459] [KO:K18416]
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H02966
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小脳機能不全・知的発達障害および低ゴナドトロピン性腺機能低下症
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Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism (CDIDHH) is a novel recessive syndrome associated with PRDM13 mutation. Patients exhibit intellectual disability ...
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先天奇形
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PRDM13 [HSA:59336] [KO:K24645]
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H02967
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Ogden 症候群
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Ogden syndrome is a rare perinatal lethal disorder characterised by global developmental delay, craniofacial abnormalities, hypotonia, cardiac arrhythmia and an aged appearance with lax skin. It has been ...
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内分泌代謝疾患
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NAA10 [HSA:8260] [KO:K20791]
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H02968
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Curry-Jones 症候群
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Curry-Jones syndrome (CRJS) is a rare multiple malformation disorder associated with brain and skull abnormalities, polysyndactyly, and defects of the eyes, skin and gastrointestinal tract. It has been ...
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先天奇形
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SMO [HSA:6608] [KO:K06226]
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H02969
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Hardikar 症候群
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Hardikar syndrome (HDKR) is a rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, but with preserved cognition ...
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先天奇形
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MED12 [HSA:9968] [KO:K15162]
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H02970
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てんかんとヘモクロマトーシスを伴う神経発達症
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Neurodevelopmental disorder with epilepsy and hemochromatosis (NEDEPH), also known as Ferro-Cerebro-Cutaneous syndrome, is a rare X-linked syndrome associated with neurodegeneration, cutaneous abnormalities ...
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先天性代謝異常症
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PIGA [HSA:5277] [KO:K03857]
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H02971
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VEXAS 症候群
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VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe adult-onset autoinflammatory disease with rheumatologic and hematologic features. It has been reported that somatic ...
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免疫系疾患
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UBA1 [HSA:7317] [KO:K03178]
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H02972
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慢性良性蛋白尿
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Chronic benign proteinuria (PROCHOB) is an autosomal recessive condition caused by C-terminal CUBN variants, leading to isolated proteinuria without kidney dysfunction and hypoalbuminemia. CUBN encodes ...
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先天性代謝異常症
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CUBN [HSA:8029] [KO:K14616]
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H02973
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多発ニューロパチーを伴うパーキンソニズム
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Parkinsonism with polyneuropathy (PKNPY) is a rare late-onset autosomal dominant parkinsonism with axonal type predominant sensorimotor polyneuropathy. It has been reported that mutations in UQCRC1 cause ...
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神経系疾患
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UQCRC1 [HSA:7384] [KO:K00414]
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H02974
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眼瞼裂狭小・知的発達障害症候群
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Blepharophimosis-impaired intellectual development syndrome (BIS) is a rare genetic syndrome characterized by epicanthal folds, blepharophimosis, and downturned nasal tip along with variable degree of ...
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先天奇形
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SMARCA2 [HSA:6595] [KO:K11647]
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H02975
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パーキンソニズムと認知障害を伴うX連鎖女性限定神経変性疾患
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X-linked female-restricted neurodegenerative disorder with parkinsonism and cognitive impairment (NDPACX) is a novel atypical parkinsonism in females with SLC9A6 mutations. SLC9A6 encodes sodium/hydrogen ...
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神経系疾患
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SLC9A6 [HSA:10479] [KO:K12041]
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H02976
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Waisman 症候群
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Waisman syndrome (WSMN) is a rare X-linked condition characterized by intellectual disability and early-onset parkinsonism with basal ganglia calcification. In females, the clinical signs tend to be milder ...
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先天奇形
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RAB39B [HSA:116442] [KO:K07925]
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H02977
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Punctiform and polychromatic pre-Descemet corneal dystrophy
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Punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) is a rare autosomal dominant corneal dystrophy characterized by the presence of punctiform, multicolored opacities in the posterior stroma ...
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神経系疾患
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PRDX3 [HSA:10935] [KO:K20011]
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