focal segmental glomerulosclerosis 5

Summary
Synonym
  • FSGS5
Definition
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33.
Super Class
autosomal dominant disease focal segmental glomerulosclerosis
External Links
Disease Ontology
DOID:0111130
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1636 ACE angiotensin I converting enzyme
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P12821 Angiotensin-converting enzyme
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: August 19, 2024