Nephrotic syndrome, type 6

Preferred Label : Nephrotic syndrome, type 6;

Symbol : NPHS6;

CISMeF acronym : NPHS6;

Type : Phenotype, molecular basis known;

Description : The nephrotic syndrome refers to a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema, resulting in end-stage kidney disease if untreated. Inherited defects in podocyte structure and function have been observed in some children with the steroid-resistant subtype of nephrotic syndrome (summary by Ozaltin et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein-tyrosine phosphatase, receptor-type, O gene (PTPRO, 600579.0001);

Laboratory abnormalities : Hypoalbuminemia;

Prefixed ID : #614196;

Details

Origin ID

614196;

UMLS CUI

C3280100;

Automatic exact mappings (from CISMeF team)
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis [ORDO Disease]
- PTPRO wt Allele [NCIt concept]
- protein tyrosine phosphatase receptor type O [ORDO Gene]
- protein tyrosine phosphatase receptor type O [HGNC gene]
Currated CISMeF NLP mapping
- nephrotic syndrome type 6 [DO Concept]
DO Cross reference
- nephrotic syndrome type 6 [DO Concept]
Genes related to phenotype
- Protein-tyrosine phosphatase, receptor-type, o [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Edema [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Hypoalbuminemia [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
- Tubulointerstitial fibrosis [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis [ORDO Disease]
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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