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 |
|---|---|---|---|---|---|
| H00424 | スフィンゴミエリン分解異常 | Defects in the degradation of sphingomyelin are a group of autosomal recessive lysosomal storage diseases including Niemann-Pick disease (NPD), type A/B and Farber lipogranulomatosis. NPD is caused by ... | 先天性代謝異常症, ライソゾーム病 |
(NPD) SMPD1 [HSA:6609] [KO:K12350] (Farber) ASAH1 [HSA:427] [KO:K12348] |
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| H00425 | リソソーム-システインプロテアーゼ異常疾患 | Defects in lysosomal cysteine proteases (Cathepsins) are autosomal recessive lysosomal storage diseases. To date only following two human cathepsin deficiencies have been described, though there are eleven ... | 先天性代謝異常症, ライソゾーム病 |
(PLS) CTSC [HSA:1075] [KO:K01275] (Pycnodysostosis) CTSK [HSA:1513] [KO:K01371] |
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| H00426 | ガングリオシドーシス | Defects in the degradation of ganglioside is a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes or their activators that play important roles in the degradation ... | 先天性代謝異常症, ライソゾーム病 |
(GM1G) GLB1 [HSA:2720] [KO:K12309] (GM2G1) HEXA [HSA:3073] [KO:K12373] (GM2G2) HEXB [HSA:3074] [KO:K12373] (GM2AB) GM2A [HSA:2760] [KO:K12383] |
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| H00427 | 回帰熱 | Relapsing fever is a bacterial infectious disease caused by spirochaetes belonging to the genus Borrelia and is transmitted by ticks or lice. Louse-borne relapsing fever is now geographically limited, ... | 細菌感染症 | ||
| H00428 | 尿細管性アシドーシス I 型 (遠位型) | Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. The distal type of RTA (dRTA) arises when ... | 泌尿器系疾患 |
(DRTA1/DRTA4) SLC4A1 [HSA:6521] [KO:K06573] (DRTA2) ATP6V1B1 [HSA:525] [KO:K02147] (DRTA3) ATP6V0A4 [HSA:50617] [KO:K02154] |
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| H00429 | 尿細管性アシドーシス II 型 (近位型) | Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Proximal RTA (type 2) is caused by an impairment ... | 泌尿器系疾患 | SLC4A4 [HSA:8671] [KO:K13575] | |
| H00430 |
進行性骨化性線維異形成症 進行性骨化線維増殖症 |
Fibrodysplasia ossificans progressiva (FOP) is a very rare disorder that leads to progressive ossification of muscle tissue and connective tissue. This process becomes noticeable in early childhood. Affected ... | 筋骨格疾患 | ACVR1 [HSA:90] [KO:K04675] | |
| H00431 | 後縦靭帯骨化症 | Ossification of the posterior longitudinal ligament of spine (OPLL) is an osteogenetic disorder of the spine found among Japanese and other East Asian populations. Ectopic bone formation in the posterior ... | 筋骨格疾患 |
COL11A2 [HSA:1302] [KO:K19721] ENPP1 [HSA:5167] [KO:K01513] COL6A1 [HSA:1291] [KO:K06238] TGFB3 [HSA:7043] [KO:K13377] |
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| H00432 | 遺伝性象牙質疾患 | Hereditary dentine disorders are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DD). DGI type I is inherited with osteogenesis imperfecta [DS:H00506] ... | 先天奇形 | DSPP [HSA:1834] [KO:K23573] | |
| H00433 | ホルト・オラム症候群 | Holt-Oram syndrome (HOS) is an autosomal-dominant disorder characterized by bilateral forelimb anomalies and congenital heart diseases. All patients with HOS have abnormal carpal bones and about 85% to ... | 先天奇形 | TBX5 [HSA:6910] [KO:K10179] | |
| H00434 |
Camurati-Engelmann病 進行性骨幹異形成症 |
Camurati-Engelmann disease (CED) is an autosomal dominant disorder characterized by hyperostosis of the diaphysis of long bones and the skull. The onset of CED is during early childhood with muscle weakness ... | 先天奇形 | TGFB1 [HSA:7040] [KO:K13375] | |
| H00435 | トキソプラズマ症 | Toxoplasmosis is a worldwide infection caused by the intracellular parasite Toxoplasma gondii. The majority of horizontal transmissions to humans is caused either by the ingestion of tissue cysts in infected ... | 寄生虫感染症 | hsa05145 Toxoplasmosis | |
| H00436 | 大理石骨病 | The osteopetroses are a heterogeneous group of disorders characterized by increased bone density and the replacement of trabecular bone with compact bone due to reduced osteoclastic bone resorption. Some ... | 先天奇形 |
(OPTA1) LRP5 [HSA:4041] [KO:K03068] (OPTA2/B4) CLCN7 [HSA:1186] [KO:K05016] (OPTA3/B6) PLEKHM1 [HSA:9842] [KO:K23282] (OPTB1) TCIRG1 [HSA:10312] [KO:K02154] (OPTB2) TNFSF11 [HSA:8600] [KO:K05473] (OPTB3) CA2 [HSA:760] [KO:K18245] (OPTB5) OSTM1 [HSA:28962] [KO:K23863] (OPTB7) TNFRSF11A [HSA:8792] [KO:K05147] (OPTB8) SNX10 [HSA:29887] [KO:K17924] (OPTB9) SLC4A2 [HSA:6522] [KO:K13855] |
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| H00437 |
骨パジェット病 骨ページェット病 |
Paget disease of bone (PDB) are rare inherited osteolytic disorders that show phenotypic overlap. Patients with these diseases carry mutations in RANK/TNFRSF11A, OPG/TNFRSF11B or SQSTM1, resulting in activation ... | 筋骨格疾患 |
(PDB2) TNFRSF11A [HSA:8792] [KO:K05147] (PDB3) SQSTM1 [HSA:8878] [KO:K14381] (PDB5) TNFRSF11B [HSA:4982] [KO:K05148] (PDB6) ZNF687 [HSA:57592] [KO:K24375] |
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| H00438 |
那須ハコラ病 多発性骨嚢胞および白質脳症 |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease is an autosomal recessive inherited disorder. It is characterized by repeated fractures occurring ... | 先天性代謝異常症 |
(PLOSL1) DAP12 [HSA:7305] [KO:K07992] (PLOSL2) TREM2 [HSA:54209] [KO:K14378] |
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| H00439 | シュバッハマン・ダイアモンド症候群 | Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. In most cases, SDS ... | リボソーム病 |
(SDS1) SBDS [HSA:51119] [KO:K14574] (SDS2) EFL1 [HSA:79631] [KO:K14536] |
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| H00440 | レット症候群 | Rett Syndrome is a severe neurological disorder found almost exclusively in girls. It is characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical ... | 神経系疾患 |
MECP2 [HSA:4204] [KO:K11588] FOXG1 [HSA:2290] [KO:K09385] |
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| H00441 | 進行性骨性異形成症 | Progressive osseous heteroplasia (POH) is a genetic disorder where heterozygous inactivating mutations in the GNAS gene have been identified. Patients with POH characteristically develop extensive bone ... | 筋骨格疾患 | GNAS [HSA:2778] [KO:K04632] | |
| H00442 | 屈曲肢異形成 | Campomelic dysplasia (CD) is a rare congenital skeletal dysplasia characterized by bowing of the long bones (campomelia). It is often associated with male-to-female autosomal sex reversal. Haploinsufficiency ... | 先天奇形 | SOX9 [HSA:6662] [KO:K18435] | |
| H00443 | 骨空洞性骨異形成症 | Osteoglophonic dysplasia (OD) or osteoglophonic dwarfism (OGD) is an autosomal dominant disorder that has skeletal phenotypes of craniosynostosis. Missense mutation of FGFR1 has been reported. | 先天奇形 | FGFR1 [HSA:2260] [KO:K04362] | |
| H00444 | 頭部硬化症を伴う線状骨障害 | Osteopathia striata with cranial sclerosis (OSCS) is a bone dysplasia characterized by longitudinal striations in the metaphyseal region of the long bones and sclerosis of the craniofacial bones. The condition ... | 先天奇形 | FAM123B [HSA:139285] [KO:K19407] | |
| H00445 | 軽症の軟骨形成異常に伴う変形性関節症 | The disease is characterized by a progressive degeneration of the articular cartilages of joints with mild spinal chondrodysplasia due to the mutation of type II procollagen (COL2A1). | 先天奇形 | COL2A1 [HSA:1280] [KO:K19719] | |
| H00446 | Craniofacial-deafness-hand 症候群 | Craniofacial-deafness-hand syndrome is inherited as an autosomal dominant or X-linked mutation characterized by a flat facial profile, hypoplastic nose, and a sensorineural hearing loss. A missense mutation ... | 先天奇形 | PAX3 [HSA:5077] [KO:K09381] | |
| H00447 | グリーンバーグ骨異形成症 | Hydrops ectopic calcification-moth-eaten (HEM) or Greenberg skeletal dysplasia is a lethal chondrodystrophy characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. It is ... | 先天奇形 | (GRBGD) LBR [HSA:3930] [KO:K19532] | |
| H00448 | 家族性離断性骨軟骨炎 | Osteochondritis dissecans is defined as a separation of articular cartilage and subchondral bone from the joint surface, affecting the knee, ankle and elbow joints. The disease is caused by heterozygous ... | 筋骨格疾患 | ACAN [HSA:176] [KO:K06792] | |
| H00449 | 眼歯指異形成症 | Oculodentodigital dysplasia (ODDD) is an inherited disorder involving characteristic facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant ... | 先天奇形 | GJA1 [HSA:2697] [KO:K07372] | |
| H00450 |
Worth 型 常染色体優性遺伝性骨硬化症 骨内膜性骨過形成 |
Worth type autosomal dominant osteosclerosis, also known as endosteal hyperostosis, is a genetic disorder characterized by high bone density. Craniofacial anomalies develop during adolescence. This disease ... | 先天奇形 | LRP5 [HSA:4041] [KO:K03068] | |
| H00451 | 骨粗鬆症・偽性神経膠腫症候群 | Osteoporosis-pseudoglioma syndrome (OPPG) is inherited as an autosomal recessive condition and is characterized by severe congenital osteoporosis with blindness. Mutations in LRP5 cause OPPG. | 先天奇形 | LRP5 [HSA:4041] [KO:K03068] | |
| H00452 |
ブシュケ‐オレンドルフ症候群 骨斑紋症 |
Buschke-Ollendorff syndrome (BOS), also known as Osteopoikilosis, is a disorders characterized by increased bone density. Loss-of-function mutations in LEMD3, which encodes an inner nuclear membrane protein ... | 先天奇形 | LEMD3 [HSA:23592] [KO:K19410] | |
| H00453 |
鰓弓耳腎症候群 BOR 症候群 |
Branchio-oto-renal (BOR) syndrome and Branchiootic (BO) syndrome show overlapping phenotypes of bilateral conductive hearing loss, branchial defects, and facial abnormalities. Individuals with BOR syndrome ... | 先天奇形 |
(BOR1/BO1) EYA1 [HSA:2138] [KO:K15616] (BOR2) SIX5 [HSA:147912] [KO:K19474] (BO3) SIX1 [HSA:6495] [KO:K15614] |