focal segmental glomerulosclerosis 3

Summary
Synonym
  • FSGS3
Definition
A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3.
Super Class
autosomal genetic disease focal segmental glomerulosclerosis
Disease Ontology
DOID:0112245
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23607 CD2AP CD2 associated protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
12488 Cd2ap CD2-associated protein
The Human Phenotype Ontology
Displaying entries 11 - 16 of 16 in total
HPO ID HPO Term
HP:0011947 Respiratory tract infection
HP:0000969 Edema
HP:0012622 Chronic kidney disease
HP:0001967 Diffuse mesangial sclerosis
HP:0000707 Abnormality of the nervous system
HP:0003073 Hypoalbuminemia
Displaying 1 entry
Gene ID Gene Symbol Description
51196 PLCE1 phospholipase C epsilon 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: December 9, 2024