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
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5589 PRKCSH PRKCSH beta subunit of glucosidase II
7351 UCP2 uncoupling protein 2
11231 SEC63 SEC63 homolog, protein translocation regulator
23193 GANAB glucosidase II alpha subunit
Displaying all 5 entries
Gene ID Gene Symbol Description Source
14376 Ganab alpha glucosidase 2 alpha neutral subunit
18763 Pkd1 polycystin 1, transient receptor potential channel interacting
19089 Prkcsh protein kinase C substrate 80K-H
22228 Ucp2 uncoupling protein 2 (mitochondrial, proton carrier)
140740 Sec63 SEC63 homolog, protein translocation regulator
Displaying 1 entry
Gene ID Gene Symbol Description Source
54315 Ucp2 uncoupling protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
180400 aagr-4 Glycoside hydrolase family 31 N-terminal domain-containing protein
Displaying all 2 entries
Gene ID Gene Symbol Description Source
851807 GTB1 Gtb1p
852530 ROT2 glucan 1,3-alpha-glucosidase ROT2
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 9, 2024