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
Disease Ontology
DOID:10983
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1285 COL4A3 collagen type IV alpha 3 chain
1287 COL4A5 collagen type IV alpha 5 chain
3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 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: April 7, 2025