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nephrotic syndrome 14

Disease Summary
Associated Targets (1)
Tchem

1


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. NPHS14 is an autosomal recessive syndromic, steroid-resistant form that progresses to end-stage renal failure. Some NPHS14 patients manifest ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects.
Mondo Term and Equivalent IDs
MONDO:0033203:  nephrotic syndrome 14
Orphanet:506334: 
UMLS:CN339707: