nephrotic syndrome type 21

Term ID

DOID:0112267

Synonyms

• NPHS21

Definition

A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1. https://pubmed.ncbi.nlm.nih.gov/29058690/

References

• OMIM:618594

Ontology

Human Disease   ( DOID:0112267 )