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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
External Links
- Disease Ontology
- DOID:0110858
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008672 | Calcium oxalate nephrolithiasis |
| HP:0001407 | Hepatic cysts |
| HP:0012622 | Chronic kidney disease |
| HP:0000107 | Renal cyst |
| HP:0012213 | Decreased glomerular filtration rate |
| HP:0003259 | Elevated circulating creatinine concentration |
| HP:0000083 | Renal insufficiency |
| HP:0011760 | Pituitary growth hormone cell adenoma |
| HP:0001737 | Pancreatic cysts |
| HP:0012591 | Abnormal urinary electrolyte concentration |
| 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 |
