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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
External Links
- Disease Ontology
- DOID:0110859
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001634 | Mitral valve prolapse |
| HP:0011004 | Abnormal systemic arterial morphology |
| HP:0000790 | Hematuria |
| HP:0012330 | Pyelonephritis |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0003621 | Juvenile onset |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0005562 | Multiple renal cysts |
| HP:0002900 | Hypokalemia |
| HP:0001696 | Situs inversus totalis |
| 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 |
