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nephrotic syndrome, type 12

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.
Uniprot Description A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS12 inheritance is autosomal recessive.
Disease Ontology Description A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13.
Mondo Term and Equivalent IDs
MONDO:0014817:  nephrotic syndrome, type 12
UMLS:C4225166: