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nephrotic syndrome type 23

Summary

Synonym

NPHS23

Definition

A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1.

Super Class

autosomal recessive disease familial nephrotic syndrome

External Links

Disease Ontology

DOID:0112266

Mondo Disease Ontology

MONDO:0030962

OMIM

619201

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
55243	KIRREL1	kirre like nephrin family adhesion molecule 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
170643	Kirrel1	kirre like nephrin family adhesion molecule 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
310695	Kirrel1	kirre like nephrin family adhesion molecule 1	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
31290	rst	roughest	Alliance of Genome Resources
31292	kirre	kin of irre	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
180555	syg-1	Ig-like domain-containing protein;Synaptogenesis protein syg-1	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 16 in total

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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