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polycystic kidney disease 3
Summary
- Synonym
-
- Apkd3
- Pkd3
- Polycystic Kidney Disease, Adult, Type III
- Definition
- A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3.
- Super Class
- autosomal dominant polycystic kidney disease
External Links
- Disease Ontology
- DOID:0110860
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P49327 | Fatty acid synthase | |
| P53396 | ATP-citrate synthase | |
| P98161 | Polycystin-1 | |
| Q14697 | Neutral alpha-glucosidase AB |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002616 | Aortic root aneurysm |
| HP:0003259 | Elevated circulating creatinine concentration |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0004944 | Dilatation of the cerebral artery |
| HP:0006557 | Polycystic liver disease |
| HP:0008672 | Calcium oxalate nephrolithiasis |
| HP:0011004 | Abnormal systemic arterial morphology |
| HP:0011760 | Pituitary growth hormone cell adenoma |
| HP:0012207 | Reduced sperm motility |
| HP:0012213 | Decreased glomerular filtration rate |
| 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 |
