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
External Links
Disease Ontology
DOID:12712
Mondo Disease Ontology
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
189 AGXT alanine--glyoxylate aminotransferase
224 ALDH3A2 aldehyde dehydrogenase 3 family member A2
1636 ACE angiotensin I converting enzyme
3956 LGALS1 galectin 1
7369 UMOD uromodulin
23417 MLYCD malonyl-CoA decarboxylase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024