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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| H01264 | 免疫不全を伴う肝静脈閉塞性疾患 | Hepatic venoocclusive disease with immunodeficiency (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. Mutations in the gene coding PML nuclear ... | 免疫系疾患 | SP110 [HSA:3431] [KO:K24503] | |
| H01265 | Hydrolethalus 症候群 | Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome leading to stillbirth or death shortly after birth. HLS is characterized by hydrocephaly with absent upper midline structures ... | 先天奇形 |
(HLS1) HYLS1 [HSA:219844] [KO:K16472] (HLS2) KIF7 [HSA:374654] [KO:K18806] |
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| H01266 | 高カロチン血症およびビタミン A 欠乏症 | Hypercarotenemia and vitamin A deficiency is caused by mutation in the CMO1(BCMO1) gene, that catalyzes the first step in the conversion of dietary provitamin A carotenoids to vitamin A. Vitamin A is essential ... | 先天性代謝異常症 | BCMO1 [HSA:53630] [KO:K00515] | |
| H01267 | 家族性高インスリン性低血糖症 | Familial hyperinsulinemic hypoglycemia (HHF) is the most common cause of persistent hypoglycemia in infancy. Recent studies on the molecular basis of the disease have disclosed specific genetic defects ... | 先天性代謝異常症 |
(HHF1/ LIH) ABCC8 [HSA:6833] [KO:K05032] (HHF2) KCNJ11 [HSA:3767] [KO:K05004] (HHF3) GCK [HSA:2645] [KO:K12407] (HHF4) HADH [HSA:3033] [KO:K00022] (HHF5) INSR [HSA:3643] [KO:K04527] (HHF6) GLUD1 [HSA:2746] [KO:K00261] (HHF7) SLC16A1 [HSA:6566] [KO:K08179] (HHF8) SLC25A36 [HSA:55186] [KO:K15116] |
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| H01268 |
HHH症候群 高オルニチン血症・高アンモニア血症・ホモシトルリン尿症 |
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder, characterized by mental retardation, progressive spastic paraparesis, seizures, and myoclonus epilepsy ... | 先天性代謝異常症 | SLC25A15 [HSA:10166] [KO:K15101] | |
| H01269 | 先天性甲状腺機能亢進症 | Congenital hyperthyroidism is a rare clinical condition, and in most cases, it is a transient disorder caused by maternal Graves disease associated with the transplacental passage of maternal thyroid-stimulating ... | 内分泌代謝疾患 | TSHR [HSA:7253] [KO:K04249] | |
| H01270 | 家族性低βリポタンパク血症 | Familial hypobetalipoproteinemia (FHBL) is an inherited disorder of lipid metabolism defined by very low levels of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein ... | 先天性代謝異常症 |
(FHBL1) APOB [HSA:338] [KO:K14462] (FHBL2) ANGPTL3 [HSA:27329] [KO:K22288] |
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| H01271 | HDR症候群 | Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR syndrome) is a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations ... | 先天奇形 | GATA3 [HSA:2625] [KO:K17895] | |
| H01272 | 左心低形成症候群 | Hypoplastic left heart syndrome (HLHS) is a severe, uniformly fatal congenital heart defect typically characterized by hypoplasia of the left ventricular chamber and aorta in association with stenosis ... | 先天奇形 |
GJA1 [HSA:2697] [KO:K07372] NKX2-5 [HSA:1482] [KO:K09345] HAND1 [HSA:9421] [KO:K09071] |
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| H01273 | 常染色体優性遺伝性角膜炎 | Autosomal dominant keratitis (ADK) is a very rare ocular disorder characterised by corneal opacification and vascularization and by foveal hypoplasia. ADK is associated with mutations in the PAX6 gene ... | 神経系疾患 | PAX6 [HSA:5080] [KO:K08031] | |
| H01274 | IGF-I resistance | Growth delay due to IGF-I resistance (IGF1RES) is characterised by variable prenatal and postnatal growth retardation and elevated serum IGF-I levels. It has been described that the defects in the IGF-IR ... | 内分泌代謝疾患 | IGF1R [HSA:3480] [KO:K05087] | |
| H01275 | インターロイキン1レセプターアンタゴニスト欠損症 | Interleukin 1 receptor antagonist deficiency (DIRA) is a rare autosomal recessive autoinflammatory disease caused by mutations in IL1RN. The absence of interleukin 1 receptor (IL-1R) antagonist allows ... | 免疫系疾患 | IL1RN [HSA:3557] [KO:K05481] | |
| H01276 | 慢性特発性偽性腸閉塞症 | Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare, often fatal syndrome, caused by a heterogeneous group of enteric neuromuscular diseases that result in a severe abnormality of gastrointestinal ... | 消化器系疾患 | FLNA [HSA:2316] [KO:K04437] | |
| H01277 | ビタミン B12 欠乏性貧血 | Vitamin B12 deficiency anaemia is caused by intestinal malabsorption of cobalamin. Imerslund-Grasbeck syndrome (IGS) is an autosomal recessive disorder characterized by juvenile megaloblastic anaemia and ... | 血液疾患 |
(IGS1) CUBN [HSA:8029] [KO:K14616] (IGS2) AMN [HSA:81693] [KO:K18259] (IFD) CBLIF [HSA:2694] [KO:K14615] |
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| H01278 | 鉄剤不応性鉄欠乏性貧血 | Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone ... | 血液疾患 | TMPRSS6 [HSA:164656] [KO:K09637] | |
| H01279 | イソブチリルCoA脱水素酵素欠損症 | Isobutyryl-CoA dehydrogenase (IBD) deficiency is a rare inborn error of valine metabolism. The patients present dilated cardiomyopathy, anemia, and carnitine deficiency. Mutations in the ACAD8 gene cause ... | 先天性代謝異常症 | ACAD8 [HSA:27034] [KO:K11538] | |
| H01280 | L-2-ヒドロキシグルタル酸尿症 | L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder characterized by progressive ataxia, mental deficiency with subcortical leukoencephalopathy, and cerebellar atrophy | 先天性代謝異常症 | L2HGDH [HSA:79944] [KO:K00109] | |
| H01281 | Lathosterolosis | Lathosterolosis is an inborn error of cholesterol biosynthesis caused by mutations in SC5D gene encoding lathosterol 5-desaturase. It is characterized by a complex phenotype, including multiple congenital ... | 先天性代謝異常症 | (LATHOS) SC5D [HSA:6309] [KO:K00227] | |
| H01282 | 精子形成異常 | Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia ... | 生殖器系疾患 |
(SPGF1) SYCP2 [HSA:10388] [KO:K19529] (SPGF2) MSH4 [HSA:4438] [KO:K08740] (SPGF3) SLC26A8 [HSA:116369] [KO:K14705] (SPGF4) SYCP3 [HSA:50511] [KO:K19528] (SPGF5) AURKC [HSA:6795] [KO:K11480] (SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF7) CATSPER1 [HSA:117144] [KO:K16889] (SPGF8) NR5A1 [HSA:2516] [KO:K08560] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF10) SEPTIN12 [HSA:124404] [KO:K16938] (SPGF11) KLHL10 [HSA:317719] [KO:K10448] (SPGF12) NANOS1 [HSA:340719] [KO:K18741] (SPGF13) TAF4B [HSA:6875] [KO:K03129] (SPGF14) ZMYND15 [HSA:84225] [KO:K24081] (SPGF15) SYCE1 [HSA:93426] [KO:K19534] (SPGF16) SUN5 [HSA:140732] [KO:K21876] (SPGF17) PLCZ1 [HSA:89869] [KO:K05861] (SPGF18) DNAH1 [HSA:25981] [KO:K10408] (SPGF19) CFAP43 [HSA:80217] [KO:K24223] (SPGF20) CFAP44 [HSA:55779] [KO:K24224] (SPGF21) BRDT [HSA:676] [KO:K11724] (SPGF22) MEIOB [HSA:254528] [KO:K22420] (SPGF23) TEX14 [HSA:56155] [KO:K17540] (SPGF24) CFAP69 [HSA:79846] [KO:K24227] (SPGF25) TEX15 [HSA:56154] [KO:K25680] (SPGF26) TSGA10 [HSA:80705] [KO:K25632] (SPGF27) AK7 [HSA:122481] [KO:K00939] (SPGF28) FANCM [HSA:57697] [KO:K10896] (SPGF29) SPINK2 [HSA:6691] [KO:K23418] (SPGF30) TDRD9 [HSA:122402] [KO:K18408] (SPGF31) PMFBP1 [HSA:83449] [KO:K23223] (SPGF32) SOHLH1 [HSA:402381] [KO:K22495] (SPGF33) CFAP251 [HSA:144406] [KO:K24228] (SPGF34) FSIP2 [HSA:401024] [KO:K26675] (SPGF35) QRICH2 [HSA:84074] [KO:K24298] (SPGF36) PPP2R3C [HSA:55012] [KO:K11583] (SPGF37) TTC21A [HSA:199223] [KO:K24178] (SPGF38) ARMC2 [HSA:84071] [KO:K24123] (SPGF39) DNAH17 [HSA:8632] [KO:K10408] (SPGF40) CFAP65 [HSA:255101] [KO:K24226] (SPGF41) CFAP70 [HSA:118491] [KO:K24932] (SPGF42) TTC29 [HSA:83894] [KO:K24937] (SPGF43) SPEF2 [HSA:79925] [KO:K25615] (SPGF44) CEP112 [HSA:201134] [KO:K16767] (SPGF45) DNAH2 [HSA:146754] [KO:K10408] (SPGF46) DNAH8 [HSA:1769] [KO:K10408] (SPGF47) DZIP1 [HSA:22873] [KO:K16470] (SPGF48) M1AP [HSA:130951] [KO:K26106] (SPGF49) CFAP58 [HSA:159686] [KO:K25554] (SPGF50) XRCC2 [HSA:7516] [KO:K10879] (SPGF51) CFAP91 [HSA:89876] [KO:K25461] (SPGF52) C14orf39 [HSA:317761] [KO:K25705] (SPGF53) ACTL9 [HSA:284382] [KO:K27902] (SPGF54) CATIP [HSA:375307] [KO:K25788] (SPGF55) SPAG17 [HSA:200162] [KO:K25533] (SPGF56) DNAH10 [HSA:196385] [KO:K10408] (SPGF57) PNLDC1 [HSA:154197] [KO:K01148] (SPGF58) IFT74 [HSA:80173] [KO:K19679] (SPGF59) TERB2 [HSA:145645] [KO:K25750] (SPGF60) TERB1 [HSA:283847] [KO:K25749] (SPGF61) STAG3 [HSA:10734] [KO:K13055] (SPGF62) RNF212 [HSA:285498] [KO:K25662] (SPGF63) RPL10L [HSA:140801] [KO:K02866] (SPGF64) FBXO43 [HSA:286151] [KO:K10318] (SPGF65) DNHD1 [HSA:144132] [KO:K26555] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] [KO:K26807] (SPGF70) PDHA2 [HSA:5161] [KO:K00161] (SPGF71) ZSWIM7 [HSA:125150] [KO:K25770] (SPGF72) WDR19 [HSA:57728] [KO:K19671] (SPGF73) MOV10L1 [HSA:54456] [KO:K13983] (SPGF74) MSH5 [HSA:4439] [KO:K08741] (SPGF75) SHOC1 [HSA:158401] [KO:K28108] (SPGF76) CCDC34 [HSA:91057] [KO:K16753] (SPGF77) FKBP6 [HSA:8468] [KO:K09572] (SPGF78) IQCN [HSA:80726] [KO:K26737] (SPGF79) KCNU1 [HSA:157855] [KO:K05274] (SPGF80) DRC1 [HSA:92749] [KO:K19754] (SPGF81) TEKT3 [HSA:64518] [KO:K18630] (SPGF82) AKAP3 [HSA:10566] [KO:K16520] (SPGF83) DNALI1 [HSA:7802] [KO:K10410] (SPGF84) CFAP61 [HSA:26074] [KO:K25460] (SPGF85) SPACA1 [HSA:81833] [KO:K25513] (SPGF86) ACTL7A [HSA:10881] [KO:K27901] (SPGF87) ACR [HSA:49] [KO:K01317] (SPGF88) KASH5 [HSA:147872] [KO:K22595] (SPGF89) AK9 [HSA:221264] [KO:K18533] (SPGF90) ARMC12 [HSA:221481] [KO:K24168] (SPGF91) CCIN [HSA:881] [KO:K24809] (SPGF92) LRRC23 [HSA:10233] [KO:K27856] (SPGF93) STK33 [HSA:65975] [KO:K08813] (SPGF94) CCDC146 [HSA:57639] [KO:K27712] (SPGF95) CFAP57 [HSA:149465] [KO:K24729] (SPGF96) SPATA22 [HSA:84690] [KO:K22421] (SPGF97) NUP210L [HSA:91181] [KO:K14314] (SPGF98) CFAP54 [HSA:144535] [KO:K25553] (SPGF99) SEPT4 [HSA:5414] [KO:K16943] (SPGF100) DNAH12 [HSA:201625] [KO:K10408] (SPGF101) ATG4D [HSA:84971] [KO:K08342] (SPGF102) CFAP206 [HSA:154313] [KO:K25471] (SPGFX2) TEX11 [HSA:56159] [KO:K24574] (SPGFX3) CFAP47 [HSA:286464] [KO:K25552] (SPGFX4) GCNA [HSA:93953] [KO:K26957] (SPGFX5) SSX1 [HSA:6756] [KO:K15624] (SPGFX6) USP26 [HSA:83844] [KO:K11850] (SPGFX7) CT55 [HSA:54967] [KO:K25478] (SPGFX8) CYLC1 [HSA:1538] [KO:K28057] (SPGFX9) RBBP7 [HSA:5931] [KO:K11659] |
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| H01283 | マロニル-CoA脱炭酸酵素欠損症 | Malonyl-CoA decarboxylase deficiency is a rare autosomal recessive disease characterized by developmental delay, seizure, hypoglycemia, cardiomyopathy and malonic aciduria. Malonyl-CoA decarboxylase (MCD) ... | 先天性代謝異常症 | MLYCD [HSA:23417] [KO:K01578] | |
| H01284 | マリネスコ・シェーグレン症候群 | Marinesco-Sjogren syndrome is an autosomal recessive multisystem disorder which is characterized by cerebellar ataxia, progressive myopathy and cataracts. Mutations in the endoplasmic reticulum associated ... | 神経系疾患 | SIL1 [HSA:64374] [KO:K14001] | |
| H01285 | メチルコバラミン欠乏G | Methylcobalamin deficiency type G (cblG) is an autosomal recessive disease characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia. Mutations in the MTR gene, which encodes methionine ... | 先天性代謝異常症 | MTR [HSA:4548] [KO:K00548] | |
| H01286 | 小耳症・難聴および口蓋裂 | Microtia is a congenital anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing loss. Syndromic form of microtia occurs in conjunction with other abnormalities ... | 先天奇形 | HOXA2 [HSA:3199] [KO:K09302] | |
| H01287 | 先天性鏡像運動症 | Mirror movements (MRMV) are involuntary movements of one side of the body that mirror intentional movements on the opposite side. While mirror movements are occasionally found in young children, persistence ... | 神経系疾患 |
(MRMV1) DCC [HSA:1630] [KO:K06765] (MRMV2) RAD51A [HSA:5888] [KO:K04482] (MRMV3) DNAL4 [HSA:10126] [KO:K10412] (MRMV4) NTN1 [HSA:9423] [KO:K06843] |
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| H01288 |
多彩異数性モザイク症候群 MVA症候群 |
Mosaic variegated aneuploidy syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies, diverse phenotypic abnormalities and predisposition to cancer. MVA is due to defective ... | 染色体異常 |
(MVA1/PCS) BUB1B [HSA:701] [KO:K06637] (MVA2) CEP57 [HSA:9702] [KO:K16762] (MVA3) TRIP13 [HSA:9319] [KO:K22399] (MVA4) CENATAC [HSA:338657] [KO:K26160] (MVA7) MAD1L1 [HSA:8379] [KO:K06679] |
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| H01289 | マリブレー低身長症 | Mulibrey nanism is an autosomal recessive growth disorder characterized by prenatal-onset growth failure and heart disease involving constrictive pericarditis and restrictive cardiomyopathy. Mutations ... | 先天奇形 | TRIM37 [HSA:4591] [KO:K10608] | |
| H01290 | 発作性ミオグロビン尿症 | Acute recurrent myoglobinuria is caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative phosphorylation. It has been reported that mutations in LPIN1 cause recurrent ... | 先天性代謝異常症 | LPIN1 [HSA:23175] [KO:K15728] | |
| H01291 |
スフェロイド小体ミオパチー 筋原線維性ミオパチー 3 |
Spheroid body myopathy (SBM) is a rare autosomal dominant neuromuscular disorder characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. The unique feature noted pathologically ... | 神経系疾患; 筋骨格疾患 | (MFM3) MYOT [HSA:9499] [KO:K19875] | |
| H01292 | Nance-Horan 症候群 | Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Mutations in NHS gene ... | 先天奇形 | NHS [HSA:4810] [KO:K24144] | |
| H01293 | ナルコレプシー | Narcolepsy is a disabling sleep disorder characterized by irresistible excessive daytime sleepiness and cataplexy, a condition triggered by strong emotions leading to a sudden loss of muscle tone. Narcolepsy ... | 神経系疾患 |
(NRCLP1) HCRT [HSA:3060] [KO:K05246] (NRCLP7) MOG [HSA:4340] [KO:K17270] |