Nephrotic syndrome, type 2

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;

Détails

Origin ID

600995;

UMLS CUI

C3496337;

Automatic exact mappings (from CISMeF team)
- Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes [ORDO Disease]
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
- NPHS2 gene [LOINC component]
- NPHS2 stomatin family member, podocin [ORDO Gene]
- NPHS2 stomatin family member, podocin [HGNC gene]
- Nephrotic syndrome, idiopathic, steroid-resistant [MeSH concept]
- Podocin [NCIt concept]
- nephrosis, congenital [MeSH Supplementary Concept]
- nephrotic syndrome type 2 [DO Concept]
- nephrotic syndrome, idiopathic, steroid-resistant [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- nephrotic syndrome, type 2 [MeSH concept]
DO Cross reference
- nephrotic syndrome type 2 [DO Concept]
False automatic mappings
- NPHS2 wt Allele [NCIt concept]
Genes related to phenotype
- Nphs2 stomatin family member, podocin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Chronic renal failure [HPO term]
- Edema [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Hyperlipidemia [HPO term]
- Hypoalbuminemia [HPO term]
- Idiopathic nephrotic syndrome [HPO term]
- Juvenile onset [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
- Rapidly progressive [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes [ORDO Disease]
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Idiopathic Nephrotic Syndrome [NCIt concept]
- Idiopathic nephrotic syndrome [ORDO Disease]
- nephrotic syndrome, type 2 [MeSH concept]

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