Nephrotic syndrome, type 4

Preferred Label : Nephrotic syndrome, type 4;

Symbol : NPHS4;

CISMeF acronym : NPHS4;

Type : Phenotype, molecular basis known;

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 (review by Schumacher et al., 1998). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Wilms tumor 1 gene (WT1, 607102.0022);

Prefixed ID : #256370;

Details

Origin ID

256370;

UMLS CUI

C3151568;

Automatic exact mappings (from CISMeF team)
- Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis [ORDO Disease]
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
- WT1 transcription factor [ORDO Gene]
- WT1 transcription factor [HGNC gene]
- WT1 wt Allele [NCIt concept]
- nephrotic syndrome type 4 [DO Concept]
DO Cross reference
- nephrotic syndrome type 4 [DO Concept]
Genes related to phenotype
- Wt1 transcription factor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Nephroblastoma [HPO term]
- Nephrotic syndrome [HPO term]
- Progressive [HPO term]
- Renal insufficiency [HPO term]
ORDO concept(s)
- Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis [ORDO Disease]
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
See also inter- (CISMeF)
- Denys-Drash Syndrome [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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