KEGG   DISEASE: Polycystic liver disease
Entry
H00545                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 13 Diseases of the digestive system
  Diseases of liver
   DB99  Certain specified diseases of liver
    H00545  Polycystic liver disease
Pathway
hsa04141  Protein processing in endoplasmic reticulum
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]
Comment
For disorders in which liver cysts occur together with kidney cysts, see polycystic kidney disease (H00542).
Other DBs
ICD-11: DB99.10
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
Reference
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
Reference
PMID:12529853 (PCLD1)
  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
Reference
PMID:15133510 (PCLD2)
  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
Reference
PMID:28375157 (PCLD3)
  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
Reference
PMID:24706814 (PCLD4)
  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
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