autosomal recessive Alport syndrome

Summary
Definition
An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.
Super Class
Alport syndrome autosomal recessive disease
Disease Ontology
DOID:0110033
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1285 COL4A3 collagen type IV alpha 3 chain
1286 COL4A4 collagen type IV alpha 4 chain
Displaying all 2 entries
Gene ID Gene Symbol Description Source
12828 Col4a3 collagen, type IV, alpha 3
12829 Col4a4 collagen, type IV, alpha 4
Displaying all 2 entries
Gene ID Gene Symbol Description Source
33726 vkg viking
33727 Col4a1 Collagen type IV alpha 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
181708 let-2 Collagen alpha-2(IV) chain

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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: December 9, 2024