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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5311 | PKD2 | polycystin 2, transient receptor potential cation channel | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5589 | PRKCSH | PRKCSH beta subunit of glucosidase II | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 7369 | UMOD | uromodulin | |
| 8050 | PDHX | pyruvate dehydrogenase complex component X | |
| 8482 | SEMA7A | semaphorin 7A (JohnMiltonHagen blood group) | |
| 9365 | KL | klotho |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| A6NDG6 | Glycerol-3-phosphate phosphatase | |
| O00329 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform | |
| O00330 | Pyruvate dehydrogenase protein X component, mitochondrial | |
| O75326 | Semaphorin-7A | |
| P07585 | Decorin | |
| P07741 | Adenine phosphoribosyltransferase | |
| P07911 | Uromodulin | |
| P12821 | Angiotensin-converting enzyme | |
| P14314 | Glucosidase 2 subunit beta | |
| P17931 | Galectin-3 |
- 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 |
