Preferred Label : Nephrotic syndrome, type 2;
Symbol : NPHS2;
CISMeF acronym : NPHS2; SRN1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : SRN1; Nephrotic syndrome, steroid-resistant, autosomal recessive;
Description : Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized
clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and
edema. Kidney biopsies show nonspecific histologic changes such as minimal change,
focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The
disorder is resistant to steroid treatment and progresses to end-stage renal failure
in the first or second decades (summary by Fuchshuber et al., 1996). Some patients
show later onset of the disorder (Tsukaguchi et al., 2002). For a general phenotypic
description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS,
see NPHS1 (256300).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the podocin gene (NPHS2, 604766.0001);
Laboratory abnormalities : Hyperlipidemia; Hypoalbuminemia;
Prefixed ID : #600995;
Origin ID : 600995;
UMLS CUI : C3496337;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)