| H00545 | |
| H番号 | H00545 |
| 名称 | 多嚢胞肝 |
| 概要 | Isolated polycystic liver disease is an inherited disorder in which cysts occur only in the liver without renal involvement. The two genes, PRKCSH, encoding hepatocystin, and SEC63, are found in patients with isolated polycystic liver disease. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (PCLD1) PRKCSH [HSA:5589] [KO:K08288] (PCLD2) SEC63 [HSA:11231] [KO:K09540] (PCLD3) ALG8 [HSA:79053] [KO:K03849] (PCLD4) LRP5 [HSA:4041] [KO:K03068] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | For disorders in which liver cysts occur together with kidney cysts, see polycystic kidney disease (H00542). |
| リンク | ICD-11: DB99.10 ICD-10: Q44.6 MeSH: C536330 OMIM: 174050 617004 617874 617875 |
| 文献 | PMID:21515270 著者 Strazzabosco M, Somlo S タイトル Polycystic liver diseases: congenital disorders of cholangiocyte signaling. 雑誌 Gastroenterology 140:1855-9, 1859.e1 (2011) DOI:10.1053/j.gastro.2011.04.030 PMID:21790682 著者 Temmerman F, Missiaen L, Bammens B, Laleman W, Cassiman D, Verslype C, van Pelt J, Nevens F タイトル Systematic review: the pathophysiology and management of polycystic liver disease. 雑誌 Aliment Pharmacol Ther 34:702-13 (2011) DOI:10.1111/j.1365-2036.2011.04783.x PMID:12529853 (PRKCSH) 著者 Li A, Davila S, Furu L, Qian Q, Tian X, Kamath PS, King BF, Torres VE, Somlo S タイトル Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. 雑誌 Am J Hum Genet 72:691-703 (2003) DOI:10.1086/368295 PMID:15133510 (SEC63) 著者 Davila S, Furu L, Gharavi AG, Tian X, Onoe T, Qian Q, Li A, Cai Y, Kamath PS, King BF, Azurmendi PJ, Tahvanainen P, Kaariainen H, Hockerstedt K, Devuyst O, Pirson Y, Martin RS, Lifton RP, Tahvanainen E, Torres VE, Somlo S タイトル Mutations in SEC63 cause autosomal dominant polycystic liver disease. 雑誌 Nat Genet 36:575-7 (2004) DOI:10.1038/ng1357 PMID:28375157 (ALG8) 著者 Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S タイトル Isolated polycystic liver disease genes define effectors of polycystin-1 function. 雑誌 J Clin Invest 127:1772-1785 (2017) DOI:10.1172/JCI90129 PMID:24706814 (LRP5) 著者 Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Chrispijn M, Venselaar H, Mehdi S, Bergmann C, Veltman JA, Drenth JP タイトル Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis. 雑誌 Proc Natl Acad Sci U S A 111:5343-8 (2014) DOI:10.1073/pnas.1309438111 |