Alport syndrome

Summary
Synonym
  • Hereditary Nephritis
Definition
A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
Super Class
monogenic disease syndrome
External Links
Disease Ontology
DOID:10983
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1591 CYP24A1 cytochrome P450 family 24 subfamily A member 1
1636 ACE angiotensin I converting enzyme
2182 ACSL4 acyl-CoA synthetase long chain family member 4
27087 B3GAT1 beta-1,3-glucuronyltransferase 1

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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