nephrotic syndrome type 22

Term ID

DOID:0112268

Synonyms

• NPHS22

Definition

A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. https://pubmed.ncbi.nlm.nih.gov/33523862/

References

• OMIM:619155

Ontology

Human Disease   ( DOID:0112268 )