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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
polycystic kidney disease 2
Summary
- Synonym
-
- Apkd2
- Pkd2
- Polycystic Kidney Disease, Adult, Type II
- Definition
- A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1.
- Super Class
- autosomal dominant polycystic kidney disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P98161 | Polycystin-1 | |
| Q13563 | Polycystin-2 | |
| Q14697 | Neutral alpha-glucosidase AB |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011462 | Young adult onset |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003676 | Progressive |
| HP:0001651 | Dextrocardia |
| HP:0006254 | Elevated circulating alpha-fetoprotein concentration |
| HP:0000324 | Facial asymmetry |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0011800 | Midface retrusion |
| HP:0000952 | Jaundice |
| HP:0003596 | Middle age onset |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 23193 | GANAB | glucosidase II alpha subunit |
| 29880 | ALG5 | ALG5 dolichyl-phosphate beta-glucosyltransferase |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting |
| 5311 | PKD2 | polycystin 2, transient receptor potential cation channel |
| 79796 | ALG9 | ALG9 alpha-1,2-mannosyltransferase |
