| 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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H03008
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掌蹠角化症、乏毛症、高 IgE 血症を伴う先天性紅皮症
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Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE (EPKHE) is a rare genetic syndrome characterized by severe dermatitis, multiple allergies, and metabolic wasting. Pathogenic ...
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先天奇形
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DSG1 [HSA:1828] [KO:K07596]
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H03009
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黄色爪症候群
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Yellow nail syndrome (YNS) is a rare disorder characterized by a triad of nail abnormalities, chronic respiratory disease, and primary lymphoedema. Because most patients lack a positive family history ...
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皮膚疾患
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CELSR1 [HSA:9620] [KO:K04600]
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H03010
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失語症と様々な痙攣発作を伴う神経発達障害
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Neurodevelopmental disorder with absent language and variable seizures (NEDALVS) is caused by de novo variants in WAS protein family member 1 (WASF1), which encodes WAVE1. WAVE1 is a component of the WAVE ...
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先天奇形
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WASF1 [HSA:8936] [KO:K05753]
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H03011
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先天性筋緊張低下、てんかん、発達遅延、および指の異常
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Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) is a neurodevelopmental disorder characterized by severe cognitive impairment, hypotonia, a distinctive facial gestalt ...
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先天奇形
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ATN1 [HSA:1822] [KO:K05626]
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H03012
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免疫調節不全を伴う全身性自己炎症・自己免疫性疾患
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Autoinflammation and autoimmunity, systemic, with immune dysregulation (AIAISD) is a rare syndrome of autoimmune disease characterized by high-titer autoantibodies, inflammatory arthritis and interstitial ...
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免疫系疾患
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(AIAISD1) COPA [HSA:1314] [KO:K05236]
(AIAISD2) OAS2 [HSA:4939] [KO:K14216]
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H03013
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免疫調節不全・神経発達異常および大腸炎
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Immune dysregulation, neurodevelopmental defects, and colitis (IDNDC) is a novel syndrome characterized by eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and other developmental ...
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免疫系疾患
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ITGAV [HSA:3685] [KO:K06487]
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H03014
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ホスホリボシルアミノイミダゾールカルボキシラーゼ欠損症
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Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD) is a novel autosomal recessive inborn error resulting in multiple malformations and early neonatal death. It has been reported that a homozygous ...
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先天性代謝異常症
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PAICS [HSA:10606] [KO:K01587]
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H03015
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脳の異常・神経変性および異骨性骨硬化症
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Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is a novel disease characterized by leukoencephalopathy, brain malformations and skeletal dysplasia compatible with dysosteosclerosis ...
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先天奇形
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CSF1R [HSA:1436] [KO:K05090]
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H03016
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Valence-Farazi 小脳失調症候群
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Valence-Farazi cerebellar ataxia syndrome (VAFCAS) is a novel syndrome characterized by neurodevelopmental delay and ataxia. Mutations in SKOR2 gene linked to this syndrome have been identified. SKOR2 ...
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先天奇形
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SKOR2 [HSA:652991] [KO:K28746]
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H03017
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頭蓋顔面異形症および骨格系障害を伴う神経発達障害
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Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) is a syndromic intellectual disability caused by mutations in HNRNPH1. Features include a distinctive dysmorphic ...
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先天奇形
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HNRNPH1 [HSA:3187] [KO:K12898]
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H03018
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顔異形と骨格および脳の異常を伴う神経発達障害
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Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB) is a syndromic intellectual disability characterized by developmental delay, microcephaly, seizures, facial ...
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先天奇形
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HNRNPR [HSA:10236] [KO:K13161]
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H03019
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筋緊張低下、頭蓋顔面の異常およびてんかん発作を伴う神経発達障害
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Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures (NEDHCS) is an inherited neurodevelopmental disorder associated with a SNIP1 mutation, present at high frequency in ...
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先天奇形
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SNIP1 [HSA:79753] [KO:K13108]
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H03020
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NESCAV 症候群
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NESCAV syndrome (NESCAVS) is a complicated form of hereditary spastic paraplegia. Additional symptoms include cognitive impairment and varying degrees of peripheral neuropathy, epilepsy, decreased visual ...
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神経系疾患
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KIF1A [HSA:547] [KO:K10392]
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H03021
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Craniofaciocardiohepatic 症候群
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Craniofaciocardiohepatic syndrome (CFCHS) is a novel syndrome characterized by craniofacial anomalies, congenital heart defects, and chronic liver dysfunction. It has been reported that mutations in AMOTL1 ...
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先天奇形
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AMOTL1 [HSA:154810] [KO:K06104]
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H03022
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肥満・多食および発達遅滞
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Obesity, hyperphagia, and developmental delay (OBHD) is a complex developmental syndrome characterized by moderate to severe intellectual disability, seizures, hyperphagia and early-onset obesity. It has ...
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神経系疾患
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NTRK2 [HSA:4915] [KO:K04360]
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H03023
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多発性自己治癒性掌蹠癌
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Multiple self-healing palmoplantar carcinoma (MSPC) is a rare, autosomal dominant genetic condition which primarily affects epithelium lacking hair follicles, such as the palms and soles, leading to multiple ...
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がん
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NLRP1 [HSA:22861] [KO:K12798]
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H03024
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Saul-Wilson 症候群
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Saul-Wilson syndrome (SWILS) is a rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal ...
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先天奇形
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COG4 [HSA:25839] [KO:K20291]
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H03025
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血球減少症・高亜鉛血症および高カルプロテクチン血症を伴う自己炎症性症候群
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Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia (AICZC) is a recently described, rare autoinflammatory disorder caused by specific mutations in the PSTPIP1 gene. Patients ...
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免疫系疾患
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PSTPIP1 [HSA:9051] [KO:K12804]
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H03026
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筋緊張低下、てんかん、言語障害を伴う神経発達障害
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Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech (NEDHES) is a severe autosomal recessive disorder caused by biallelic loss-of-function mutations in UNC13A, which result in impaired ...
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先天奇形
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UNC13A [HSA:23025] [KO:K15293]
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H03027
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言語遅延、運動異常、発作を伴う神経発達障害
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Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures (NEDSMS) is caused by UNC13A mutations that lead to increased short-term synaptic depression during, and reduced augmentation ...
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先天奇形
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UNC13A [HSA:23025] [KO:K15293]
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H03028
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痙攣発作および顔貌異常を伴う知的発達障害
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Intellectual development disorder with seizures and dysmorphic facies (IDDSF) is an autosomal dominant disorder characterized by learning difficulties to mild-moderate intellectual disability as well as ...
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先天奇形
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UNC13A [HSA:23025] [KO:K15293]
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H03029
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外胚葉形成異常/低身長症候群
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Ectodermal dysplasia/short stature syndrome (ECTDS) is a rare autosomal recessive ectodermal dysplasia syndrome. The clinical features comprise short stature, nail dystrophy or nail loss, marginal palmoplantar ...
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先天奇形
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GRHL2 [HSA:79977] [KO:K09275]
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H03030
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早期発症黄斑変性
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Early-onset macular degeneration (EOMD) is an early-onset monogenic disease. Macular degeneration is a major cause of untreatable visual impairment and affects the central region of the retina and the ...
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神経系疾患
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FBN2 [HSA:2201] [KO:K23342]
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H03031
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Marden-Walker 症候群
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Marden-Walker syndrome (MWKS) is a very rare disorder characterized by joint contractures, cleft palate, blepharophimosis, immobile facies, diminished muscular bulk, developmental delay, and hindbrain ...
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先天奇形
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PIEZO2 [HSA:63895] [KO:K22128]
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H03032
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Ramond-Elliott 神経発達症候群
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Ramond-Elliott neurodevelopmental syndrome (RAMELN) is a novel neurodevelopmental syndrome. Affected individuals presented intellectual disability and/or developmental delay, frequently associated with ...
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先天奇形
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TRA2B [HSA:6434] [KO:K12897]
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