| 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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H03038
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Pettigrew 症候群
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Pettigrew syndrome (PGS) is an X-linked intellectual disability characterized by intellectual disability, Dandy-Walker malformation, seizures, choreoathetosis, coarse facies, basal ganglia calcification ...
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先天奇形
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AP1S2 [HSA:8905] [KO:K12394]
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H03039
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低身長-小顎症症候群
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Short stature-micrognathia syndrome (SSMG), also known as ARCN1-related syndrome, presents with a wide clinical spectrum ranging from a severe embryonic lethal syndrome to a mild syndrome with intrauterine ...
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先天奇形
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ARCN1 [HSA:372] [KO:K20471]
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H03040
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てんかんおよび脳萎縮を伴う神経発達障害
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Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) is a novel disorder caused by mutations in ATP6V0A1, the brain-enriched isoform of a subunit in the V0 domain of vacuolar-type ATPase ...
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先天奇形
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ATP6V0A1 [HSA:535] [KO:K02154]
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H03041
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成長不良と骨格異常を伴う神経発達障害
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Neurodevelopmental disorder with poor growth and skeletal anomalies (NEDGS) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, seizures, and intellectual disability ...
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先天奇形
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PCDHGC4 [HSA:56098] [KO:K16497]
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H03042
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発達遅滞、言語障害および目の異常
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Developmental delay, language impairment, and ocular abnormalities (DEVLO) is a neurodevelopmental disorder characterized by significant speech impairment, mild motor delays, microcephaly, and variable ...
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先天奇形
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ARPC4 [HSA:10093] [KO:K05755]
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H03043
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脳の構造異常および顔異形を伴う神経発達障害
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Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) is caused by mutations in the RAC3 gene, encoding a small Rho GTPase involved in cytoskeletal regulation. Characteristic ...
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先天奇形
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RAC3 [HSA:5881] [KO:K07861]
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H03044
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脳の構造異常と頭蓋顔面異常を伴う神経発達障害
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Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities (NEDBAC) is a rare, severe prenatal-onset neurodevelopmental syndrome. It has been reported that mutations ...
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先天奇形
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SNAPIN [HSA:23557] [KO:K20002]
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H03045
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パーキンソニズムまたは他の運動異常を伴う神経発達障害
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Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is a novel autosomal recessive disorder caused by mutations in EPG5. The age-dependent phenotypic spectrum of this ...
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先天奇形
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EPG5 [HSA:57724] [KO:K23883]
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H03046
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成長不良とてんかん発作または運動失調を伴う(伴わない)知的発達障害
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Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA) is a variable phenotypic syndrome characterized by intellectual disability. Mutations in ABCA2 have ...
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先天奇形
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ABCA2 [HSA:20] [KO:K05642]
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H03047
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多腺性ポリニューロパチー症候群
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Polyendocrine-polyneuropathy syndrome (PEPNS) is a syndrome that involves gonadotropic axis deficiency, central hypothyroidism, peripheral demyelinating sensorimotor polyneuropathy, impaired intellectual ...
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神経系疾患
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DMXL2 [HSA:23312] [KO:K24155]
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H03048
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発作性舞踏病アテトーゼを伴う家族性乳児けいれん
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Familial infantile convulsions with paroxysmal choreoathetosis (ICCA) is a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis ...
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先天性代謝異常症
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PRRT2 [HSA:112476] [KO:K23897]
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H03049
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Hypersulfaturia
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Hypersulfaturia (HYSULF) is an autosomal recessive condition characterized by increased urinary sulfate excretion. It has been reported that a patient presenting with painful perichondritis, hyposulfatemia ...
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先天性代謝異常症
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SLC26A1 [HSA:10861] [KO:K14700]
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H03050
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網膜ジストロフィおよび肥満
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Retinal dystrophy and obesity (RDOB) is a rare early-onset autosomal recessive disease. Mutations in TUB have been reported in patients. TUB is a member of the tubby-like protein (TULP) family, which regulates ...
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神経系疾患
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TUB [HSA:7275] [KO:K19600]
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H03051
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Autosomal dominant isolated mitochondrial myopathy
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Autosomal dominant isolated mitochondrial myopathy (IMMD) is characterized by exercise intolerance and proximal myopathy in the first decade of life. Some patients have elevated serum lactate and creatine ...
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先天性代謝異常症
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CHCHD10 [HSA:400916] [KO:K22759]
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H03052
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高プロインスリン血症
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Familial hyperproinsulinemia is an autosomal dominant disorder characterized by a marked increase in immunoreactive proinsulin-like material in the serum. Mutations in the insulin gene have been reported ...
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先天性代謝異常症
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INS [HSA:3630] [KO:K04526]
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H03053
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Huppke-Brendel 症候群
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Huppke-Brendel syndrome (HPBDS) is a lethal autosomal recessive syndrome characterized by congenital cataracts, hearing loss, and severe developmental delay. It has been reported that mutations in SLC33A1 ...
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先天性代謝異常症
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SLC33A1 [HSA:9197] [KO:K03372]
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H03054
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胎便性イレウス
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Meconium ileus is a manifestation of intestinal and pancreatic dysfunction that results in the accumulation of sticky and inspissated intraluminal meconium, which in most cases results from cystic fibrosis ...
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消化器系疾患
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GUCY2C [HSA:2984] [KO:K12320]
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H03055
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タウロドンティズム・矮小歯および陥入歯
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Taurodontism, microdontia, and dens invaginatus (TMDI) is a novel X-linked recessive syndrome. It has been reported that mutations in KIF4A cause this syndrome. KIF4A encodes an ATP-dependent microtubule-based ...
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先天奇形
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KIF4A [HSA:24137] [KO:K10395]
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H03056
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高分子キニノーゲン欠損症
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High molecular weight kininogen (HMWK) deficiency is a very rare hereditary disorder caused by mutations in KGN1. HMWK is a circulating plasma protein that participates not only in intrinsic coagulation ...
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血液疾患
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KNG1 [HSA:3827] [KO:K03898]
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H03057
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CEBALID 症候群
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CEBALID syndrome is a novel neurodevelopmental and craniofacial disorder characterized by partial rhombencephalosynapsis. Truncating mutations in MN1 have been reported in individuals with this syndrome ...
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先天奇形
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MN1 [HSA:4330] [KO:K22543]
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H03058
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顔異形を伴う肢根型四肢短縮
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Rhizomelic limb shortening with dysmorphic features (RLSDF) is a novel skeletal disorder. It has been reported that biallelic mutations in PKDCC cause RLSDF. PKDCC encodes a component of the Hedgehog signaling ...
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先天奇形
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PKDCC [HSA:91461] [KO:K17548]
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H03059
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ハルデロポルフィリン症
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Harderoporphyria (HARPO) is a rare erythropoietic variant form of hereditary coproporphyria [DS:H00202], characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions and the accumulation ...
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先天性代謝異常症
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CPOX [HSA:1371] [KO:K00228]
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H03060
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スクアレンシンターゼ欠損症
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Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical manifestations similar to Smith-Lemli-Opitz syndrome [DS:H00161]. Clinical features include ...
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先天性代謝異常症
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FDFT1 [HSA:2222] [KO:K00801]
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H03061
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Lobodontia
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Lobodontia (LBDT) is a rare dental anomaly characterized by supernumerary cusps and a single pyramid-shaped molar root. It has been reported that mutations in ASCL5 cause lobodontia. ASCL5 encodes a recently ...
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先天奇形
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ASCL5 [HSA:647219] [KO:K09067]
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H03062
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本態性フルクトース尿症
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Essential fructosuria is a rare and benign error of metabolism. This disorder is caused by the inherited deficiency of fructokinase (ketohexokinase, KHK). Since it is asymptomatic and harmless, many cases ...
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先天性代謝異常症
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KHK [HSA:3795] [KO:K00846]
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H03063
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コロボーマ・大理石骨病・小眼球症・巨頭症・白子症および難聴
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Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) is a novel syndrome caused by biallelic mutations in the MITF gene. MITF encodes a basic helix-loop-helix zipper protein ...
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先天奇形
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MITF [HSA:4286] [KO:K09455]
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H03064
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Familial visceral neuropathy
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Familial visceral neuropathy (VSCN) is a heterogeneous group of disorders caused by abnormalities of the myenteric plexus. It commonly presents with gastrointestinal symptoms, particularly chronic intestinal ...
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神経系疾患
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(VSCN1) ERBB3 [HSA:2065] [KO:K05084]
(VSCN2) ERBB2 [HSA:2064] [KO:K05083]
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H03065
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好中球減少や血小板の異常を伴う/伴わないX-連鎖性貧血
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X-linked anemia with or without neutropenia and/or platelet abnormalities (XLANP) is an X-linked recessive hematologic disorder caused by inherited mutations in exon 2 of the hematopoietic transcription ...
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血液疾患
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GATA1 [HSA:2623] [KO:K09182]
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H03066
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頭蓋顔面の異常および前眼部形成異常症候群
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Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS) is a rare syndrome characterized by craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory ...
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先天奇形
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VSX1 [HSA:30813] [KO:K09335]
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H03067
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胸腺無形成を伴うT細胞免疫不全症
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T-cell immunodeficiency with thymic aplasia (TIDTA) is a combined immunodeficiency caused by mutations in FOXN1, a transcription factor essential for thymic epithelial cell differentiation. Patients have ...
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免疫系疾患
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FOXN1 [HSA:8456] [KO:K09407]
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