| H00545 | |
| H number | H00545 |
| Name | Polycystic liver disease |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (PCLD1) PRKCSH [HSA:5589] [KO:K08288] (PCLD2) SEC63 [HSA:11231] [KO:K09540] (PCLD3) ALG8 [HSA:79053] [KO:K03849] (PCLD4) LRP5 [HSA:4041] [KO:K03068] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | For disorders in which liver cysts occur together with kidney cysts, see polycystic kidney disease (H00542). |
| Other DBs | ICD-11: DB99.10 ICD-10: Q44.6 MeSH: C536330 OMIM: 174050 617004 617874 617875 |
| Reference | PMID:21515270 AUTHORS Strazzabosco M, Somlo S TITLE Polycystic liver diseases: congenital disorders of cholangiocyte signaling. JOURNAL Gastroenterology 140:1855-9, 1859.e1 (2011) DOI:10.1053/j.gastro.2011.04.030 PMID:21790682 AUTHORS Temmerman F, Missiaen L, Bammens B, Laleman W, Cassiman D, Verslype C, van Pelt J, Nevens F TITLE Systematic review: the pathophysiology and management of polycystic liver disease. JOURNAL Aliment Pharmacol Ther 34:702-13 (2011) DOI:10.1111/j.1365-2036.2011.04783.x PMID:12529853 (PRKCSH) AUTHORS Li A, Davila S, Furu L, Qian Q, Tian X, Kamath PS, King BF, Torres VE, Somlo S TITLE Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. JOURNAL Am J Hum Genet 72:691-703 (2003) DOI:10.1086/368295 PMID:15133510 (SEC63) AUTHORS 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 TITLE Mutations in SEC63 cause autosomal dominant polycystic liver disease. JOURNAL Nat Genet 36:575-7 (2004) DOI:10.1038/ng1357 PMID:28375157 (ALG8) AUTHORS 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 TITLE Isolated polycystic liver disease genes define effectors of polycystin-1 function. JOURNAL J Clin Invest 127:1772-1785 (2017) DOI:10.1172/JCI90129 PMID:24706814 (LRP5) AUTHORS Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Chrispijn M, Venselaar H, Mehdi S, Bergmann C, Veltman JA, Drenth JP TITLE Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis. JOURNAL Proc Natl Acad Sci U S A 111:5343-8 (2014) DOI:10.1073/pnas.1309438111 |