Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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 |
|---|---|---|---|
| 207 | AKT1 | AKT serine/threonine kinase 1 | |
| 929 | CD14 | CD14 molecule | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1579 | CYP4A11 | cytochrome P450 family 4 subfamily A member 11 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 4351 | MPI | mannose phosphate isomerase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5311 | PKD2 | polycystin 2, transient receptor potential cation channel | |
| 7369 | UMOD | uromodulin |
Related Glycoprotein
