Focal segmental glomerulosclerosis 5

Preferred Label : Focal segmental glomerulosclerosis 5;

Symbol : FSGS5;

CISMeF acronym : FSGS5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glomerulosclerosis, focal segmental, 5;

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) (Meyrier, 2005). Dominant intermediate Charcot-Marie-Tooth disease E and focal segmental glomerulonephritis (CMTDIE; 614455) is also caused by heterozygous mutation in the INF2 gene. For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).;

Prefixed ID : #613237;

Details

Origin ID

613237;

UMLS CUI

C2750475;

Automatic exact mappings (from CISMeF team)
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis [ORDO Disease]
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- focal segmental glomerulosclerosis 5 [DO Concept]
- focal segmental glomerulosclerosis 5 [MeSH concept]
- focal segmental glomerulosclerosis 5 [MeSH Supplementary Concept]
DO Cross reference
- focal segmental glomerulosclerosis 5 [DO Concept]
Genes related to phenotype
- Inverted formin 2 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Hypertension [HPO term]
- Microscopic hematuria [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 5 [MeSH Supplementary Concept]
- focal segmental glomerulosclerosis 5 [MeSH concept]
- focal segmental glomerulosclerosis 5 [DO Concept]

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