Nephrotic syndrome, type 3

Preferred Label : Nephrotic syndrome, type 3;

Symbol : NPHS3;

CISMeF acronym : NPHS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nephrotic syndrome, early-onset, type 3;

Description : Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) (Hinkes et al., 2006). Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen (Gbadegesin et al., 2008). 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 phospholipase C, epsilon-1 gene (PLCE1, 608414.0001);

Laboratory abnormalities : Proteinuria; Hypoalbuminemia;

Prefixed ID : #610725;

Details

Origin ID

610725;

UMLS CUI

C1853124;

Automatic exact mappings (from CISMeF team)
- Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis [ORDO Disease]
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis [ORDO Disease]
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
- nephrosis, congenital [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- nephrotic syndrome type 3 [DO Concept]
- nephrotic syndrome, type 3 [MeSH concept]
DO Cross reference
- nephrotic syndrome type 3 [DO Concept]
Genes related to phenotype
- Phospholipase C, epsilon-1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Edema [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Hypoalbuminemia [HPO term]
- Nephrotic syndrome [HPO term]
- Progressive [HPO term]
- Proteinuria [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- nephrotic syndrome, progressing to endstage kidney disease [HPO term]
ORDO concept(s)
- Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis [ORDO Disease]
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis [ORDO Disease]
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
See also inter- (CISMeF)
- PLCE1 wt Allele [NCIt concept]
- phospholipase C epsilon 1 [ORDO Gene]
- phospholipase C epsilon 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nephrotic syndrome, type 3 [MeSH concept]

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