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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
External Links
- Disease Ontology
- DOID:0050770
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4041 | LRP5 | LDL receptor related protein 5 | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5311 | PKD2 | polycystin 2, transient receptor potential cation channel | |
| 5589 | PRKCSH | PRKCSH beta subunit of glucosidase II | |
| 7351 | UCP2 | uncoupling protein 2 | |
| 23193 | GANAB | glucosidase II alpha subunit | |
| 79053 | ALG8 | ALG8 alpha-1,3-glucosyltransferase | |
| 79796 | ALG9 | ALG9 alpha-1,2-mannosyltransferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P14314 | Glucosidase 2 subunit beta | |
| P98161 | Polycystin-1 | |
| Q13563 | Polycystin-2 | |
| Q14697 | Neutral alpha-glucosidase AB | |
| Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 |
- The Human Phenotype Ontology
| 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 |
