nephrotic syndrome type 23

Term ID

DOID:0112266

Synonyms

• 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. https://pubmed.ncbi.nlm.nih.gov/31472902/

References

• MIM:619201

Ontology

Human Disease   ( DOID:0112266 )