Senior-Loken syndrome

Summary
Synonym
  • Loken Senior syndrome
  • renal-retinal syndrome
Definition
A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:0050576
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 5 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
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