KEGG   DISEASE: Polycystic liver diseaseHelp
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 [BR:br08402]
 Congenital malformations
  Congenital malformations of the digestive system
   H00545  Polycystic liver disease
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
BRITE hierarchy
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Gene
PRKCSH [HSA:5589] [KO:K08288]
SEC63 [HSA:11231] [KO:K09540]
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
Reference
  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
  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

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