focal segmental glomerulosclerosis 7

Summary
Synonym
  • FSGS7
Definition
A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31.
Super Class
autosomal dominant disease focal segmental glomerulosclerosis
External Links
Disease Ontology
DOID:0111132
Mondo Disease Ontology
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 1 - 10 of 16 in total
HPO ID HPO Term
HP:0002027 Abdominal pain
HP:0100539 Periorbital edema
HP:0000737 Irritability
HP:0003774 Stage 5 chronic kidney disease
HP:0000097 Focal segmental glomerulosclerosis
HP:0002586 Peritonitis
HP:0012579 Minimal change glomerulonephritis
HP:0001945 Fever
HP:0000093 Proteinuria
HP:0002315 Headache
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