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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| H02437 | 成長遅滞、知的発達障害、筋緊張低下および肝障害 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) is a prenatal onset syndrome caused by bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS). | 先天奇形 | IARS1 [HSA:3376] [KO:K01870] | |
| H02438 | 高グリシン血症、乳酸アシドーシスおよびてんかん発作 | Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) is characterized by neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. Mutations ... | 先天性代謝異常症 | LIAS [HSA:11019] [KO:K03644] | |
| H02439 | 低身長、成長遅滞、先天性心疾患 | Short stature, developmental delay, congenital heart defect (SDDHD) is an autosomal recessive syndrome caused by mutations in TKT, that encodes transketolase. Transketolase is a thiamine-dependent enzyme ... | 先天性代謝異常症 | TKT [HSA:7086] [KO:K00615] | |
| H02440 | 家族性良性斑点網膜症 | Familial benign fleck retina (FRFB) is an autosomal recessive condition associated with a distinctive retinal appearance. Affected individuals are asymptomatic, but fundus examination reveals a striking ... | 神経系疾患 | PLA2G5 [HSA:5322] [KO:K01047] | |
| H02441 | HUPRA 症候群 | HUPRA syndrome is a multisystemic mitochondrial cytopathy of infancy, characterized by hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. It has been reported that mutations in SARS2 ... | 先天性代謝異常症 | SARS2 [HSA:54938] [KO:K01875] | |
| H02442 |
風邪 普通感冒 |
The common cold is a viral infection of the upper respiratory tract. Many types of viruses can cause a common cold, with rhinoviruses being the most common. Certain coronaviruses are also implicated in ... | ウイルス感染症 | ||
| H02444 | Luscan-Lumish 症候群 | Luscan-Lumish syndrome is an overgrowth condition caused by mutations in SETD2. It is characterised by macrocephaly, intellectual disability, speech delay, and behavioral problems. | 先天奇形 | SETD2 [HSA:29072] [KO:K11423] | |
| H02445 | 小角膜・近視性網脈絡膜萎縮および眼角隔離 | Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is a syndrome caused by mutations in ADAMTS18. ADAMTS18 encodes a member of a family of metallo-proteases that are known for their role ... | 先天奇形 | ADAMTS18 [HSA:170692] [KO:K08632] | |
| H02446 | 常染色体劣性遺伝性巨頭症/巨脳症症候群 | Autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is characterized by intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms ... | 先天奇形 | TBC1D7 [HSA:51256] [KO:K20396] | |
| H02447 | 錐体外路症状を伴うミオパチー | Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive disorder characterized by proximal myopathy, learning difficulties, and a progressive extrapyramidal movement disorder. Mutations in ... | 神経系疾患 | MICU1 [HSA:10367] [KO:K22827] | |
| H02448 | Harel-Yoon 症候群 | Harel-Yoon syndrome (HAYOS) is a neurological syndrome characterized by global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. It has been reported that ... | 神経系疾患 | ATAD3A [HSA:55210] [KO:K17681] | |
| H02449 | 常染色体優性遺伝性葉状魚鱗癬 | Autosomal dominant lamellar ichthyosis (ADLI) is a skin disorder caused by mutations in ASPRV1. Clinical and histologic features are similar to those of autosomal-recessive lamellar ichthyosis [DS:H00734] ... | 先天奇形 | ASPRV1 [HSA:151516] [KO:K24552] | |
| H02450 | 進行性脊柱側弯症を伴う水平注視麻痺 | Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterized by congenital absence of horizontal conjugate eye movements with progressive scoliosis developing ... | 神経系疾患 |
(HGPPS1) ROBO3 [HSA:64221] [KO:K06755] (HGPPS2) DCC [HSA:1630] [KO:K06765] |
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| H02451 | フコシル化の欠損を伴う先天性グリコシル化異常症 | Congenital disorder of glycosylation with defective fucosylation (CDGF) is a rare inherited metabolic disorder due to abnormalities in fucosylation, which is an enzymatic process of incorporating L-fucose ... | 先天性代謝異常症 |
(CDGF1) FUT8 [HSA:2530] [KO:K00717] (CDGF2) FCSK [HSA:197258] [KO:K05305] |
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| H02452 | 筋肥大 | Muscle hypertrophy (MSLHP) is defined as an increase in muscle mass, as a result of an increase in the size of pre-existing muscle fibers. A myostatin mutation in a child with muscle hypertrophy has been ... | 筋骨格疾患 | MSTN [HSA:2660] [KO:K05497] | |
| H02453 | 先天性心疾患および外胚葉異形成 | Congenital heart defects and ectodermal dysplasia (CHDED) is one of the syndromic congenital heart defects. Patients have extra-cardiac manifestations, including severe developmental delay, ectodermal ... | 先天奇形 | PRKD1 [HSA:5587] [KO:K06070] | |
| H02454 | 先天性心疾患・ 顔異形および知的発達障害 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) is one of the syndromic congenital heart defects. It has been reported that heterozygous mutations ... | 先天奇形 | CDK13 [HSA:8621] [KO:K08819] | |
| H02455 |
先天性心疾患・舌の過誤腫および多合指症 Ostravik-Lindemann-Solberg 症候群 |
Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP), also known as Ostravik-Lindemann-Solberg syndrome, is a rare, autosomal recessive disorder characterized by coarctation of the ... | 先天奇形 | WDPCP [HSA:51057] [KO:K22863] | |
| H02456 | 外胚葉形成異常 | Ectodermal dysplasias (ECTD) are a heterogeneous group of disorders characterized by a deficiency of ectodermally derived tissues, including hair, skin, teeth, and sweat glands. These conditions feature ... | 先天奇形 |
(ECTD14) TSPEAR [HSA:54084] [KO:K24437] (EDFAOB) RHOA [HSA:387] [KO:K04513] (CLPED1) NECTIN1 [HSA:5818] [KO:K06081] |
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| H02457 | 発育遅延、白質脳症および神経学的代償不全 | Developmental delay, leukoencephalopathy, and neurologic decompensation is an autosomal dominant neurodevelopmental syndrome caused by missense mutations in EIF2AK1 and EIF2AK2. They encode members of ... | 神経系疾患 |
(LEMSPAD) EIF2AK1 [HSA:27102] [KO:K16194] (LEUDEN) EIF2AK2 [HSA:5610] [KO:K16195] |
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| H02458 |
シルビウス水道の先天性狭窄による水頭症 X 連鎖性水頭症 |
Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS) is a rare X-linked disease characterized by severe hydrocephaly. HSAS is the most common of the inherited form of hydrocephalus. It ... | 先天奇形 | L1CAM [HSA:3897] [KO:K06550] | |
| H02459 | 症候群性神経発達障害 | Syndromic neurodevelopmental disorder (NED) is a group of disorders that have a number of clinical features in addition to intellectual disability and developmental delay. Many genes that cause these syndromes ... | 先天奇形 |
(NEDALVS) WASF1 [HSA:8936] [KO:K05753] (NEDIDHA) DOCK3 [HSA:1795] [KO:K05727] (NEDISHM) ZNF142 [HSA:7701] [KO:K24851] (NEDSSWI) DHPS [HSA:1725] [KO:K00809] (NEDMIAL) DHX30 [HSA:22907] [KO:K13185] (NEDMOSBA) TMEM222 [HSA:84065] [KO:K20726] (NEDSGO) TBC1D2B [HSA:23102] [KO:K20166] (NEDEGE) NBEA [HSA:26960] [KO:K24183] (NEDSOA) THUMPD1 [HSA:55623] [KO:K06963] (NEDLBAS) AGO1 [HSA:26523] [KO:K11593] (NEDLDS) TIAM1 [HSA:7074] [KO:K05731] (NEDGBA) ATP9A [HSA:10079] [KO:K26679] (NEDLAAD) CAPRIN1 [HSA:4076] [KO:K18743] (NEDOA) SNF8 [HSA:11267] [KO:K12188] |
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| H02460 | 顔異形と骨格異常を伴う神経発達障害 | Neurodevelopmental disorder (NED) with dysmorphic facies and skeletal anomalies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies and ... | 先天奇形 |
(NEDDFSA) ZMIZ1 [HSA:57178] [KO:K22403] (DEGCAGS) ZNF699 [HSA:374879] [KO:K09228] (NEDFSS) TRPM3 [HSA:80036] [KO:K04978] (NEDSFF) DPH5 [HSA:51611] [KO:K00586] |
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| H02461 | 小頭症を伴う神経発達障害 | Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes ... | 先天奇形 |
(NEDMEBA) TRAPPC6B [HSA:122553] [KO:K20304] (NDMSBA) PLAA [HSA:9373] [KO:K14018] (NEDMABA) SMPD4 [HSA:55627] [KO:K12353] (NEDAHM) SVBP [HSA:374969] [KO:K23357] (NEDMCMS) TMX2 [HSA:51075] [KO:K25112] (NEDMEHM) MTHFS [HSA:10588] [KO:K01934] (NMIHBA) PRUNE1 [HSA:58497] [KO:K01514] (NEDHYMS) ADARB1 [HSA:104] [KO:K13194] (NEDSEBA) EXOC7 [HSA:23265] [KO:K07195] (NEDMISB) EXOC8 [HSA:149371] [KO:K19986] (NEDSOSB) SEC31A [HSA:22872] [KO:K14005] (NEDMSC) VPS50 [HSA:55610] [KO:K23288] (NEDMHS) CPSF3 [HSA:51692] [KO:K14403] (NEDMIMS) CHKA [HSA:1119] [KO:K14156] (NEDMISS) TRAPPC10 [HSA:7109] [KO:K20307] (NEDMVIC) DOHH [HSA:83475] [KO:K06072] (NEDSMBA) PPFIBP1 [HSA:8496] [KO:K27096] (NEDMIM) TTI1 [HSA:9675] [KO:K20403] (NEDGS) PCDHGC4 [HSA:56098] [KO:K16497] (NEDMISH) FLVCR1 [HSA:28982] [KO:K08220] |
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| H02462 | 脊椎骨端異形成 | Spondyloepiphyseal dysplasia (SED) refers to a heterogeneous group of disorders with primary involvement of vertebrae and epiphyseal centers of long bones. Three major types of SED are recognized SED congenita ... | 先天奇形 |
(SEDKF) MBTPS1 [HSA:8720] [KO:K08653] (SEDN) MIR140 [HSA:406932] [KO:K17145] (SEDH) BNIP1 [HSA:662] [KO:K08497] |
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| H02463 | 症候群性知的発達障害 | Syndromic intellectual developmental disorder (IDD) is a group of disorders characterized by intellectual disability presented together with additional features such as facial dysmorphisms or congenital ... | 精神及び行動の障害 |
(IDDRP) SCAPER [HSA:49855] [KO:K24869] (IDDCDF) TMEM94 [HSA:9772] [KO:K25291] (IDDFP) BRPF1 [HSA:7862] [KO:K11348] (IDDFSDA) OTUD6B [HSA:51633] [KO:K18342] (IDDGIP) PPM1D [HSA:8493] [KO:K10147] (DILOS) BCL11A [HSA:53335] [KO:K22045] (IDDBCS) PHF21A [HSA:51317] [KO:K24651] (IDDFBA) FBXO11 [HSA:80204] [KO:K10297] (IDDEBF) ALG14 [HSA:199857] [KO:K07441] (IDDHDF) CCNK [HSA:8812] [KO:K23326] (IDDHBA) CDK8 [HSA:1024] [KO:K02208] (IDDMSSD) PAK1 [HSA:5058] [KO:K04409] (IDDNPF) SLC45A1 [HSA:50651] [KO:K15378] (IDDECA) RORA [HSA:6095] [KO:K08532] (IDDSELD) SETD1B [HSA:23067] [KO:K11422] (IDDHISD) TNPO2 [HSA:30000] [KO:K18727] (IDDSSAD) ACTL6B [HSA:51412] [KO:K11652] (IDDFSTA) BCL11B [HSA:64919] [KO:K22046] (FHEIG) KCNK4 [HSA:50801] [KO:K04915] (HIDEA) P4HTM [HSA:54681] [KO:K06711] (IDPOGSA) ABCA2 [HSA:20] [KO:K05642] (IDDHISD) TNPO2 [HSA:30000] [KO:K18727] (IDDPADS) PDE2A [HSA:5138] [KO:K18283] (IDDSAPN) NEMF [HSA:9147] [KO:K24971] (CAGS) ANKRD17 [HSA:26057] [KO:K16726] (MRFACD) MED13L [HSA:23389] [KO:K15164] (IDDMDS) LGI3 [HSA:203190] [KO:K19999] (IDDOF) MTSS2 [HSA:92154] [KO:K20128] (IDDPN) NUDT2 [HSA:318] [KO:K01518] |
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| H02464 | Poretti-Boltshauser 症候群 | Poretti-Boltshauser syndrome (PTBHS) is an autosomal recessive disorder characterized by nonprogressive cerebellar ataxia, intellectual disability, and ocular apraxia with cerebellar cysts. It has been ... | 先天奇形 | LAMA1 [HSA:284217] [KO:K05637] | |
| H02465 | Weiss-Kruszka 症候群 | Weiss-Kruszka syndrome is an autosomal dominant disorder characterized by craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. It has been reported that haploinsufficiency ... | 先天奇形 | ZNF462 [HSA:58499] [KO:K24853] | |
| H02466 | Rajab 間質性肺疾患および脳石灰化 | Rajab interstitial lung disease with brain calcification (RILDBC) is severe growth restriction with combined brain, liver and lung involvement. Mutations in genes encoding phenylalanyl-tRNA synthetases ... | 呼吸器系疾患 |
(RILDBC1) FARSB [HSA:10056] [KO:K01890] (RILDBC2) FARSA [HSA:2193] [KO:K01889] |
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| H02467 | 新生児炎症性皮膚および腸疾患 | Neonatal inflammatory skin and bowel disease (NISBD) is a rare autosomal recessive disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. A few gene mutations ... | 免疫系疾患 |
(NISBD1) ADAM17 [HSA:6868] [KO:K06059] (NISBD2) EGFR [HSA:1956] [KO:K04361] |