polycystic liver disease

Summary
Synonym
  • congenital cystic liver disease
  • congenital hepatic cyst
  • fibrocystic liver disease
Definition
A liver disease that is characterized by the presence of multiple cysts located_in the liver.
Super Class
autosomal dominant disease liver disease
Disease Ontology
DOID:0050770
Mondo Disease Ontology
MeSH
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23193 GANAB glucosidase II alpha subunit
Displaying all 2 entries
Gene ID Gene Symbol Description Source
19089 Prkcsh protein kinase C substrate 80K-H
22228 Ucp2 uncoupling protein 2 (mitochondrial, proton carrier)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q14697 Neutral alpha-glucosidase AB
Displaying 1 entry
UniProt ID Protein Name Source
O08795 Glucosidase 2 subunit beta
The Human Phenotype Ontology
Displaying entries 1 - 10 of 21 in total
HPO ID HPO Term
HP:0002617 Vascular dilatation
HP:0002086 Abnormality of the respiratory system
HP:0005562 Multiple renal cysts
HP:0002020 Gastroesophageal reflux
HP:0003418 Back pain
HP:0008872 Feeding difficulties in infancy
HP:0002239 Gastrointestinal hemorrhage
HP:0001732 Abnormality of the pancreas
HP:0002240 Hepatomegaly
HP:0003573 Increased total bilirubin
Displaying 1 entry
Gene ID Gene Symbol Description
5589 PRKCSH PRKCSH beta subunit of glucosidase II

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025