Nephrotic Syndrome, Type 4

Alternative Names

  • NPHS4
Back to search Result
WHO-ICD-10 version:2010

Diseases of the genitourinary system

Glomerular diseases

OMIM Number

256370

Mode of Inheritance

Autosomal dominant

Gene Map Locus

11p13

Description

Nephrotic syndrome, a malfunction of the glomerular filter, leads to proteinuria, edema, and, in steroid-resistant nephrotic syndrome, end-stage renal disease (ESRD). Renal histopathology in NPHS4 due to WT1 mutations most often shows diffuse mesangial sclerosis (DMS), but can also show focal segmental glomerulosclerosis (FSGS). Both of these terms refer to pathologic findings and may be associated with the same clinical phenotype, namely nephrotic syndrome. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
256370.1Lebanon Nephrotic syndromeNM_024426.6:c.1250G>THeterozygousAutosomal, DominantNair et al. 2018
© CAGS 2024. All rights reserved.