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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
nephronophthisis
Summary
- Synonym
-
- medullary cystic disease
- medullary cystic kidney
- Definition
- A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
- Super Class
- autosomal recessive disease kidney disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95822 | Malonyl-CoA decarboxylase, mitochondrial | |
| P07911 | Uromodulin | |
| P09382 | Galectin-1 | |
| P12821 | Angiotensin-converting enzyme | |
| P51648 | Aldehyde dehydrogenase family 3 member A2 |
