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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| H02528 | Hao-Fountain 症候群 | Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. HAFOUS is caused by mutations in USP7 that encodes deubiquitinating enzyme | 先天奇形 | USP7 [HSA:7874] [KO:K11838] | |
| H02529 | 骨髄不全症候群 | Bone marrow failure syndromes are a heterogeneous group of life-threatening disorders characterized by the inability of the bone marrow to make an adequate number of mature blood cells. | 血液疾患 |
(BMFS1) SRP72 [HSA:6731] [KO:K03108] (BMFS2) ERCC6L2 [HSA:375748] [KO:K20098] (BMFS3) DNAJC21 [HSA:134218] [KO:K09506] (BMFS4) MYSM1 [HSA:114803] [KO:K11865] (BMFS5) TP53 [HSA:7157] [KO:K04451] (BMFS6) MDM4 [HSA:4194] [KO:K10127] (BMFS7) ADH5 [HSA:128] [KO:K00121] (BMFS8) SLC30A7 [HSA:148867] [KO:K14692] (BMFDMS) DUT [HSA:1854] [KO:K01520] |
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| H02530 | 遺伝性前立腺癌 | Hereditary prostate cancer (HPC) has been used to characterize families with a particularly strong history of prostate cancer and includes those families with either: three or more affected first-degree ... | がん |
(HPC1) RNASEL [HSA:6041] [KO:K01165] (HPC2) ELAC2 [HSA:60528] [KO:K00784] (HPC9) HOXB13 [HSA:10481] [KO:K09298] (HPC12) EHBP1 [HSA:23301] [KO:K25572] (HPC13) MSMB [HSA:4477] [KO:K25684] (HPCX3) AR [HSA:4477] [KO:K25684] |
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| H02531 | 家族性乳がん卵巣がん | Hereditary susceptibility to breast cancer is considered to be polygenic. The most important breast cancer susceptibility genes are BRCA1 and BRCA2. Mutations in these genes confer a high risk of early-onset ... | がん |
(BROVCA1) BRCA1 [HSA:672] [KO:K10605] (BROVCA2) BRCA2 [HSA:675] [KO:K08775] (BROVCA3) RAD51C [HSA:5889] [KO:K10870] (BROVCA4) RAD51D [HSA:5892] [KO:K10871] (BROVCA5) PALB2 [HSA:79728] [KO:K10897] |
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| H02532 | プロテアソーム関連自己炎症性症候群 | Proteasome-associated autoinflammatory syndrome (PRAAS) is also known as Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE). PRAAS is a rare autoinflammatory ... | 免疫系疾患 |
(PRAAS1) PSMB8 [HSA:5696] [KO:K02740] (PRAAS2) POMP [HSA:51371] [KO:K11599] (PRAAS3) PSMB4 [HSA:5692] [KO:K02736] (PRAAS3/PRAAS6) PSMB9 [HSA:5698] [KO:K02741] (PRAAS4) PSMG2 [HSA:56984] [KO:K11876] (PRAAS5) PSMB10 [HSA:5699] [KO:K02733] |
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| H02533 | Kaufman 眼脳顔症候群 | Kaufman oculocerebrofacial syndrome (KOS) is a rare developmental disorder characterised by reduced growth, microcephaly, ocular anomalies, distinctive facial features, intellectual disability, and generalised ... | 先天奇形 | UBE3B [HSA:89910] [KO:K10588] | |
| H02534 | Y-連鎖精子形成異常 | The important role of the human Y chromosome in the causation of male infertility is increasingly recognized. The Y chromosome harbors a number of genes essential for testis development and function. | 生殖器系疾患 |
USP9Y [HSA:8287] [KO:K11840] BPY2 [HSA:9083] [KO:K26999] CDY1 [HSA:9085] [KO:K00653] DAZ1 [HSA:1617] [KO:K24980] DAZ2 [HSA:57055] [KO:K24980] DDX3Y [HSA:8653] [KO:K17642] PRY [HSA:9081] PRY2 [HSA:442862] RBMY1A1 [HSA:5940] [KO:K25090] |
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| H02535 | 顔異形を伴う神経発達障害 | Neurodevelopmental disorder (NED) with dysmorphic facies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies. Several underlying genetic ... | 先天奇形 |
(NEDBAF) RAC3 [HSA:5881] [KO:K07861] (NEDFACH) EXOC2 [HSA:55770] [KO:K17637] (NDCAGF) INTS1 [HSA:26173] [KO:K13138] (NEDDFAS) EMC10 [HSA:284361] [KO:K23570] (NEDCAFD) TTC5 [HSA:91875] [KO:K24928] (CFNDS) CCDC32 [HSA:90416] [KO:K27410] (CPPRDD) LRRC32 [HSA:2615] [KO:K26316] (HINCONS) RALA [HSA:5898] [KO:K07834] (ALKUS) SMG8 [HSA:55181] [KO:K18734] (NEDFLPH) TMEM147 [HSA:10430] [KO:K26498] (NEDGFAX) TCEAL1 [HSA:9338] [KO:K26769] (NEDGFC) FRA10AC1 [HSA:118924] [KO:K13121] (NEDFBA) SRSF1 [HSA:6426] [KO:K12890] (NEDGEF) ZNF668 [HSA:79759] [KO:K27106] (NEDITPO) SMG9 [HSA:56006] [KO:K18735] (NEDFSAB) CHASERR [HSA:100507217] (NEDGSAF/NEDHGFA) SEL1L [HSA:6400] [KO:K14026] (NEDSFB) NAV3 [HSA:89795] [KO:K23919] (NEDFBS) GTF3C3 [HSA:9330] [KO:K15201] (NEDSZFB) KLHL20 [HSA:27252] [KO:K10457] |
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| H02536 | 感染誘発性急性脳症 | Infection-induced acute encephalopathy (IIAE) is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever, often leading to coma, multiple-organ ... | 神経系疾患; 感染症 |
(IIAE1) UNC93B1 [HSA:81622] [KO:K26150] (IIAE2) TLR3 [HSA:7098] [KO:K05401] (IIAE3) RANBP2 [HSA:5903] [KO:K12172] (IIAE4) CPT2 [HSA:1376] [KO:K08766] (IIAE5) TRAF3 [HSA:7187] [KO:K03174] (IIAE6) TICAM1 [HSA:148022] [KO:K05842] (IIAE7) IRF3 [HSA:3661] [KO:K05411] (IIAE8) TBK1 [HSA:29110] [KO:K05410] (IIAE9) NUP214 [HSA:8021] [KO:K14317] (IIAE10) SNORA31 [HSA:677814] [KO:K26336] (IIAE11) DBR1 [HSA:51163] [KO:K18328] (IIAE12) RNH1 [HSA:6050] [KO:K16634] |
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| H02537 | 自己炎症、免疫調節障害および好酸球増多症 | Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant systemic immune dysregulatory syndrome caused by gain-of-function mutations in JAK1. JAK-STAT signaling pathway ... | 免疫系疾患 | JAK1 [HSA:3716] [KO:K11217] | |
| H02538 | 傍神経節腫 | Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. The pathogenesis and progression of PGLs are very strongly ... | 新生物 |
(PGL1) SDHD [HSA:6392] [KO:K00237] (PGL2) SDHAF2 [HSA:54949] [KO:K18168] (PGL3) SDHC [HSA:6391] [KO:K00236] (PGL4) SDHB [HSA:6390] [KO:K00235] (PGL5) SDHA [HSA:6389] [KO:K00234] (PGL6) SLC25A11 [HSA:8402] [KO:K15104] (PGL7) DLST [HSA:1743] [KO:K00658] |
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| H02539 | 椎間板症 | Intervertebral disc degeneration (IDD) is a common musculoskeletal disease associated with genetic factors. | 筋骨格疾患 |
COL11A1 [HSA:1301] [KO:K19721] COL9A3 [HSA:1299] [KO:K08131] THBS2 [HSA:7058] [KO:K04659] ASPN [HSA:54829] [KO:K08120] CILP [HSA:8483] [KO:K24436] |
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| H02540 | 乳児発症多臓器自己免疫疾患 | Infantile-onset multisystem autoimmune disease (ADMIO) is typified by hypogammaglobulinemia and onset of autoimmune phenomena during early childhood that include diabetes and autoimmune enteritis. | 免疫系疾患 |
(ADMIO1) STAT3 [HSA:6774] [KO:K04692] (ADMIO2) ZAP70 [HSA:7535] [KO:K07360] (ADMIO3) CBLB [HSA:868] [KO:K22517] (ADMIO4) PDCD1 [HSA:5133] [KO:K06744] (ADMIO5) CD274 [HSA:29126] [KO:K06745] |
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| H02541 | 若年性骨髄単球性白血病 | Juvenile myelomonocytic leukemia (JMML) is a rare clonal hematopoietic disorder of early childhood with features characteristic of both myelodysplastic and myeloproliferative disorders. Recent studies ... | がん |
PTPN11 [HSA:5781] [KO:K07293] ARHGAP26 [HSA:23092] [KO:K20071] CBL [HSA:867] [KO:K04707] NF1 [HSA:4763] [KO:K08052] NRAS [HSA:4893] [KO:K07828] KRAS [HSA:3845] [KO:K07827] |
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| H02542 | 急性前骨髄球性白血病 | Acute promyelocytic leukemia (APL) is the most malignant form of acute myeloid leukemia (AML) with a severe bleeding tendency and a fatal course of only weeks. Morphologically, it is identified as AML-M3 ... | がん |
PML-RARA (translocation) [HSA:5371 5914] [KO:K10054 K08527] PLZF-RARA (translocation) [HSA:7704] [KO:K10055] NUMA1-RARA (translocation) [HSA:4926] [KO:K16808] |
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| H02543 | 遠位中間肢異形成症 | Acromesomelic dysplasia (AMD) is a group of autosomal recessive form of skeletal disorders characterized by dwarfism associated with anomalies of middle and distal segments of the extremities. Mutations ... | 先天奇形 |
(AMD1) NPR2 [HSA:4882] [KO:K12324] (AMD2) GDF5 [HSA:8200] [KO:K04664] (AMD3) BMPR1B [HSA:658] [KO:K13578] (AMD4) PRKG2 [HSA:5593] [KO:K19477] |
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| H02544 | リボフラビン欠乏症 | Riboflavin deficiency is the common vitamin deficiency. Riboflavin is essential for cellular function, as it participates in a diversity of redox reactions central to human metabolism. Genetic variations ... | 内分泌代謝疾患 | SLC52A1 [HSA:55065] [KO:K22117] | |
| H02545 | 高トリプトファン血症 | Hypertryptophanemia (HYPTRP) is a rare inherited metabolic disorder caused by congenital defects of tryptophan metabolism. Tryptophan is a precursor to the neurotransmitters serotonin and melatonin. It ... | 先天性代謝異常症 | (HYPTRP) TDO2 [HSA:6999] [KO:K00453] | |
| H02546 | 高バリン血症および高ロイシン・イソロイシン血症 | Hypervalinemia and hyperleucine-isoleucinemia is a very rare disease caused by mutations in BCAT2 that catalyze the first step in branched-chain amino acid (BCAA) catabolism. BCAT2 deficiency results in ... | 先天性代謝異常症 | BCAT2 [HSA:587] [KO:K00826] | |
| H02547 | BRENS 症候群 | Biliary, renal, neurologic, and skeletal (BRENS) syndrome is a severe ciliopathy disorder that segregates in an autosomal recessive manner. BRENS syndrome is caused by homozygous mutations in TTC26 gene ... | 先天奇形 | TTC26 [HSA:79989] [KO:K19685] | |
| H02548 | CIMDAG 症候群 | CIMDAG syndrome is a multisystem disease characterized by cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation ... | 先天奇形 | VPS4A [HSA:27183] [KO:K12196] | |
| H02549 | 小脳失調・脳奇形及び心伝導障害 | Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) is a rare autosomal recessive disorder. Patients with biallelic variants in EXOSC5 have been reported. EXOSC5 encodes a structural ... | 先天奇形 | EXOSC5 [HSA:56915] [KO:K12590] | |
| H02550 | Birk-Landau-Perez 症候群 | Birk-Landau-Perez syndrome (BILAPES) is a novel autosomal recessive cerebro-renal syndrome characterized by early onset intellectual disability and tubulointerstitial nephropathy. It has been suggested ... | 先天性代謝異常症 | SLC30A9 [HSA:10463] [KO:K14696] | |
| H02551 | 関節弛緩と骨年齢亢進を伴う骨異形成症 | Skeletal dysplasia with joint laxity and advanced bone age (SDJLABA) is a congenital disorder of glycosylation. SDJLABA is caused by mutations in CSGALNACT1that encodes a key enzyme in the biosynthesis ... | 先天奇形 | CSGALNACT1 [HSA:55790] [KO:K00746] | |
| H02552 | 運動失調・企図振戦および筋緊張低下症候群 | Ataxia, intention tremor, and hypotonia syndrome (ATITHS) is a childhood-onset ataxia syndrome. It has been suggested that heterozygous, loss-of-function variants in POU4F1 cause this disease. POU4F1 is ... | 神経系疾患 | POU4F1 [HSA:5457] [KO:K09366] | |
| H02553 | 腹部ミオパチー | Visceral myopathy (VSCM) is a rare inherited form of myopathic pseudo-obstruction. It is characterized by impaired functions of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe ... | 先天奇形 |
(VSCM1) ACTG2 [HSA:72] [KO:K12315] (VSCM2) MYH11 [HSA:4629] [KO:K10352] |
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| H02554 | Omenn 症候群 | Omenn syndrome is a rare autosomal recessive disease that is characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Mutations ... | 免疫系疾患 |
RAG1 [HSA:5896] [KO:K10628] RAG2 [HSA:5897] [KO:K10988] DCLRE1C [HSA:64421] [KO:K10887] |
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| H02555 | マックル-ウェルズ症候群 | Muckle-Wells syndrome (MWS) is a rare inherited autoinflammatory disease characterized by fevers, rashes, arthralgia, conjunctivitis, and sensorineural hearing loss. In MWS, NLRP3 gene mutations are associated ... | 免疫系疾患 | NLRP3 [HSA:114548] [KO:K12800] | |
| H02556 |
CINCA 症候群 慢性乳児神経皮膚関節炎症候群 |
Chronic infantile neurological cutaneous and articular (CINCA) syndrome, also known as neonatal onset multisystemic inflammatory disease (NOMID), is a rare congenital inflammatory disorder characterized ... | 免疫系疾患 | NLRP3 [HSA:114548] [KO:K12800] | |
| H02557 | ドーパ反応性ジストニア | Dopa-responsive dystonia (DRD) encompasses a clinically and genetically heterogeneous group of disorders that typically manifest as limb-onset dystonia that fluctuates diurnally and improves with levodopa ... | 神経系疾患 |
(DYT5a) GCH1 [HSA:2643] [KO:K01495] (DYT5b) TH [HSA:7054] [KO:K00501] |