Focal segmental glomerulosclerosis 2

Preferred Label : Focal segmental glomerulosclerosis 2;

Symbol : FSGS2;

CISMeF acronym : FSGS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glomerulosclerosis, focal segmental, 2;

Description : Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (review by Meyrier, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome (NPHS), see FSGS1 (603278).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel subfamily C member 6 gene (TRPC6, 603652.0001);

Laboratory abnormalities : Proteinuria (greater than 3 by qualitative urinalysis);

Prefixed ID : #603965;

Details

Origin ID

603965;

UMLS CUI

C1858915;

Currated CISMeF NLP mapping
- focal segmental glomerulosclerosis 2 [DO Concept]
- focal segmental glomerulosclerosis 2 [MeSH concept]
- focal segmental glomerulosclerosis 2 [MeSH Supplementary Concept]
DO Cross reference
- focal segmental glomerulosclerosis 2 [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily C, member 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chronic kidney disease [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Hypertension [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
- Stage 5 chronic kidney disease [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]
UMLS correspondences (same concept)
- focal segmental glomerulosclerosis 2 [MeSH Supplementary Concept]
- focal segmental glomerulosclerosis 2 [MeSH concept]
- focal segmental glomerulosclerosis 2 [DO Concept]

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