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 |
|---|---|---|---|---|---|
| H00933 | 遺伝性膵炎 | Hereditary pancreatitis is a very rare form of chronic relapsing pancreatitis. Its inheritance mode is autosomal dominant with an incomplete penetrance (80%). Patients had recurrent pancreatitis with impairment ... | 消化器系疾患 |
PRSS1 [HSA:5644] [KO:K01312] SPINK1 [HSA:6690] [KO:K23417] CFTR [HSA:1080] [KO:K05031] PRSS2 [HSA:5645] [KO:K01312] CTRC [HSA:11330] [KO:K01311] |
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| H00934 |
尾方重複異常 尾部重複奇形 |
Caudal duplication anomaly is a rare type of developmental disorder that arises from incomplete separation of mono-ovular twins. It can involve various congenital anomalies, but the hallmark is duplication ... | 先天奇形 | AXIN1 (methylation at the promoter region) [HSA:8312] [KO:K02157] | |
| H00935 | 寒冷誘発性発汗症候群 | Cold-induced sweating syndrome (CISS) is inherited in an autosomal recessive manner. Mutations in CRLF1 account for about 90% and mutations in CLCF1 account for about 10% of CISS. CISS is characterized ... | 先天奇形 |
(CISS1) CRLF1 [HSA:9244] [KO:K24481] (CISS2) CLCF1 [HSA:23529] [KO:K05421] (CISS3) KLHL7 [HSA:55975] [KO:K10445] |
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| H00936 | Goldberg-Shprintzen 巨大結腸症候群 | Goldberg-Shprintzen megacolon syndrome is a rare disorder caused by inactivating mutations in the kinesin binding protein (KBP) and is characterized by central and enteric nervous system defects. Clinical ... | 先天奇形 | KBP [HSA:26128] [KO:K23845] | |
| H00937 | 思春期早発症 | Precocious puberty has been classically defined as the onset of secondary sexual characteristics in girls younger than 8 years old and in boys younger than 9 and a half years old. Central precocious puberty ... | 内分泌代謝疾患 |
(CEPREPU) KISS1R [HSA:84634] [KO:K08374] (FMPP) LHCGR [HSA:3973] [KO:K04248] |
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| H00938 |
先天性第XI因子欠乏症 ローゼンタール病 |
Factor XI (FXI) deficiency is an injury-related bleeding disorder common in Ashkenazi Jews and rare worldwide. FXI deficiency is characterized by infrequent spontaneous bleeding, but increased risk of ... | 血液疾患 | F11 [HSA:2160] [KO:K01323] | |
| H00939 | Darsun 症候群 | G6PC3 deficiency is a syndromic variant of severe congenital neutropenia associated by complex organ malformation. Patients often have cardiac defects such as atrial septal defects, an increased superficial ... | 免疫系疾患 | G6PC3 [HSA:92579] [KO:K01084] | |
| H00940 | Cohen 症候群 | Cohen syndrome is an autosomal recessive disorder with a broad phenotypic spectrum. Essential symptoms include mental retardation, progressive postnatal microcephaly, typical facial anomalies, ophthalmologic ... | 先天奇形 | COH1 [HSA:157680] [KO:K19526] | |
| H00941 | 先天性第XII因子欠乏症 | Factor XII (FXII) deficiency is a rare autosomal recessive disorder. Although FXII deficiency is not associated with a clinical bleeding tendency, FXII is an important protease that plays a major role ... | 血液疾患 | F12 [HSA:2161] [KO:K01328] | |
| H00942 | ラブソン・メンデンホール症候群 | Rabson-Mendenhall syndrome (RMS) is a rare disorder involving severe insulin resistance due to mutations in the insulin receptor (INSR) gene. Obligatory symptoms are extreme hyperinsulinemia and profound ... | 内分泌代謝疾患 | INSR [HSA:3643] [KO:K04527] | |
| H00943 | TARP 症候群 | TARP syndrome is a disorder marked by early lethality. It comprises Talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left ... | 先天奇形 | RBM10 [HSA:8241] [KO:K13094] | |
| H00944 | ダウリング‐デゴス病 | Dowling-Degos disease is a rare pigmented skin disorder caused by mutations in keratin 5 and protein O-fucosyltransferase 1. Small hyperpigmented macules appear in a clustered or reticulated pattern at ... | 皮膚疾患 |
(DDD1) KRT5 [HSA:3852] [KO:K07605] (DDD2) POFUT1 [HSA:23509] [KO:K03691] (DDD4) POGLUT1 [HSA:56983] [KO:K13667] |
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| H00945 | 先天性第XIII因子欠乏症 | Factor XIII deficiency is a rare autosomal recessive disorder characterized by defective cross-linking of fibrin and poor resistance to fibrinolysis. The severity of the bleeding tendency varies from benign ... | 血液疾患 |
F13A1 [HSA:2162] [KO:K03917] F13B [HSA:2165] [KO:K03906] |
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| H00946 | Arts 症候群 | Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, delayed motor development, ataxia, congenital sensorineural hearing impairment, and optic atrophy. Patients ... | 先天奇形 | PRPS1 [HSA:5631] [KO:K00948] | |
| H00947 | 毛母腫 | Pilomatricoma is a benign cutaneous tumor of follicular structures. It occurs either in isolation or in conjunction with other symptoms such as myotonic dystrophy and Rubenstein-Taybi syndrome. The histologic ... | 新生物 | CTNNB1 [HSA:1499] [KO:K02105] | |
| H00948 | 腎性低尿酸血症 | Renal hypouricemia (RHUC) is a disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Renal urate reabsorption ... | 泌尿器系疾患 |
(RHUC1) SLC22A12 [HSA:116085] [KO:K08208] (RHUC2) SLC2A9 [HSA:56606] [KO:K08146] |
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| H00949 | 巣状皮膚低形成 | Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare X-linked dominant disorder characterized by patchy dermal hypoplasia and fat herniation through skin in combination with skeletal ... | 先天奇形 | PORCN [HSA:64840] [KO:K00181] | |
| H00950 | ARC 症候群 | Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a fatal multisystem disorder that causes neonatal intrahepatic cholestasis. It also exhibits notable clinical variability showing anemia ... | 先天奇形 |
VPS33B [HSA:26276] [KO:K23281] VIPAR [HSA:63894] [KO:K23287] |
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| H00951 | Reis-Bucklers 角膜ジストロフィー | Reis-Bucklers corneal dystrophy (RBCD) is a progressive autosomal dominant dystrophy and patients are born with normal appearing corneas. In the first or second decade of life, corneal opacification and ... | 神経系疾患 | TGFBI [HSA:7045] [KO:K19519] | |
| H00952 | Thiel–Behnke 角膜ジストロフィー | Thiel-Behnke dystrophy (TBCD) is an autosomal dominant dystrophy with recurrent corneal erosions developing in the first and second decade of life. TBCD shares many similarities with Reis-Bucklers corneal ... | 神経系疾患 | TGFBI [HSA:7045] [KO:K19519] | |
| H00953 |
膠様滴状角膜ジストロフィー 角膜アミロイド症 |
Gelatinous drop-like corneal dystrophy (GDCD) is a rare autosomal recessive dystrophy characterized by multiple prominent milky-white gelatinous mulberry-shaped nodules formed beneath the corneal epithelium ... | 神経系疾患 | TACSTD2 [HSA:4070] [KO:K17288] | |
| H00954 | 斑状角膜ジストロフィー | Macular corneal dystrophy (MCD), inherited in an autosomal recessive fashion, is the least common but severe form of stromal dystrophy characterized by superficial gray-white corneal opacities that progressively ... | 神経系疾患 | CHST6 [HSA:4166] [KO:K09671] | |
| H00955 | 顆粒状角膜ジストロフィー | Granular corneal dystrophy (GCD), inherited in an autosomal dominant fashion, is one of the most common corneal dystrophies characterized by the deposition of gray-white crumb like opacities in the anterior ... | 神経系疾患 | TGFBI [HSA:7045] [KO:K19519] | |
| H00956 | 格子状角膜ジストロフィー | Lattice corneal dystrophy (LCD), the most common of the stromal corneal dystrophies, is an autosomal dominant dystrophy with variable expression. Clinical findings include the presence of a linear network ... | 神経系疾患 | TGFBI [HSA:7045] [KO:K19519] | |
| H00957 | 斑状角膜ジストロフィー | Fleck corneal dystrophy (FCD) is a rare corneal dystrophy characterized by multiple asymptomatic, non-progressive symmetric minute opacities disseminated throughout the corneal stroma. FCD does not affect ... | 神経系疾患 | PIP5K3 [HSA:200576] [KO:K00921] | |
| H00958 | 先天性角膜実質変性症 | Congenital stromal corneal dystrophy (CSCD) is a rare condition characterized by numerous opaque flaky or feathery clouding of the corneal stroma. The flakes and spots become more numerous with age and ... | 神経系疾患 | DCN [HSA:1634] [KO:K04660] | |
| H00959 | シュナイダー角膜ジストロフィー | Schnyder corneal dystrophy (SCD) is a corneal dystrophy that is characterized by deposition of cholesterol in the corneal stroma. SCD usually becomes apparent early in life with corneal clouding or with ... | 神経系疾患 | UBIAD1 [HSA:29914] [KO:K00810] | |
| H00960 | フックス角膜内皮変性症 | Fuchs endothelial corneal dystrophy (FECD) is characterized by progressive loss of corneal endothelial cells, thickening of Descemet membrane, and deposition of extracellular matrix in the form of guttae ... | 神経系疾患 |
(FECD1) COL8A2 [HSA:1296] [KO:K23455] (FECD3) TCF4 [HSA:6925] [KO:K15603] (FECD4) SLC4A11 [HSA:83959] [KO:K13862] (FECD6) ZEB1 [HSA:6935] [KO:K09299] (FECD8) AGBL1 [HSA:123624] [KO:K23436] |
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| H00961 | 後部多形性角膜ジストロフィー | Posterior polymorphous corneal dystrophy (PPCD) is a very rare, bilateral autosomal dominant disorder affecting primarily the innermost corneal layers, Descemet membrane (DM), and the endothelium, biomicroscopically ... | 神経系疾患 |
(PPCD1) OVOL2 [HSA:58495] [KO:K09216] (PPCD2) COL8A2 [HSA:1296] [KO:K23455] (PPCD3) ZEB1 [HSA:6935] [KO:K09299] (PPCD4) GRHL2 [HSA:79977] [KO:K09275] |
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| H00962 | RIDDLE 症候群 | RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties) syndrome is an immunodeficiency disorder that primarily manifests as an immunoglobulin deficiency. The underlying ... | 免疫系疾患 | RNF168 [HSA:165918] [KO:K20779] |