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polycystic kidney disease 1
Summary
- Synonym
-
- APKD1
- PKD1
- Polycystic Kidney Disease, Adult, Type I
- Definition
- A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3.
- Super Class
- autosomal dominant polycystic kidney disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P98161 | Polycystin-1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O08852 | Polycystin-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012330 | Pyelonephritis |
| HP:0012591 | Abnormal urinary electrolyte concentration |
| HP:0012592 | Albuminuria |
| HP:0012622 | Chronic kidney disease |
| HP:0100702 | Arachnoid cyst |
| HP:0007029 | Cerebral berry aneurysm |
| HP:0002253 | Colonic diverticula |
| HP:0001653 | Mitral regurgitation |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0000006 | Autosomal dominant inheritance |
| 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 |
