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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal recessive polycystic kidney disease
Summary
- Synonym
-
- Arpkd
- Pkhd1
- Polycystic Kidney Disease, Infantile, Type I
- Polycystic Kidney and Hepatic Disease 1
- Definition
- A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.
- Super Class
- autosomal recessive disease polycystic kidney disease
External Links
- Disease Ontology
- DOID:0110861
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2475 | MTOR | mechanistic target of rapamycin kinase | |
| 4750 | NEK1 | NIMA related kinase 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5314 | PKHD1 | PKHD1 ciliary IPT domain containing fibrocystin/polyductin | |
| 6522 | SLC4A2 | solute carrier family 4 member 2 | |
| 7248 | TSC1 | TSC complex subunit 1 | |
| 24145 | PANX1 | pannexin 1 | |
| 80114 | BICC1 | BicC family RNA binding protein 1 | |
| 91147 | TMEM67 | transmembrane protein 67 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 56350 | Arl3 | ADP-ribosylation factor-like 3 | |
| 56717 | Mtor | mechanistic target of rapamycin kinase | |
| 64930 | Tsc1 | TSC complex subunit 1 | |
| 227289 | Gpbar1 | G protein-coupled bile acid receptor 1 | |
| 241035 | Pkhd1 | polycystic kidney and hepatic disease 1 | |
| 329795 | Tmem67 | transmembrane protein 67 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24185 | Akt1 | AKT serine/threonine kinase 1 | |
| 24232 | C3 | complement C3 | |
| 24255 | Cftr | CF transmembrane conductance regulator | |
| 24310 | Ace | angiotensin I converting enzyme | |
| 24780 | Slc4a2 | solute carrier family 4 member 2 | |
| 25240 | Aqp1 | aquaporin 1 | |
| 60350 | Cd14 | CD14 molecule | |
| 170911 | Pik3ca | phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha | |
| 315435 | Panx1 | Pannexin 1 | |
| 338443 | Gpbar1 | G protein-coupled bile acid receptor 1 |
