Focal segmental glomerulosclerosis 1

Preferred Label : Focal segmental glomerulosclerosis 1;

Symbol : FSGS1;

CISMeF acronym : FSGS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glomerulosclerosis, focal segmental, 1;

Description : Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; 256300), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998). D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte. Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-4 actinin gene (ACTN4, 604638.0001);

Laboratory abnormalities : Proteinuria;

Prefixed ID : #603278;

Details

Origin ID

603278;

UMLS CUI

C4551527;

Automatic exact mappings (from CISMeF team)
- ACTN4 wt Allele [NCIt concept]
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis [ORDO Disease]
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
- symbol withdrawn FSGS1 [HGNC gene]
Currated CISMeF NLP mapping
- focal segmental glomerulosclerosis 1 [DO Concept]
DO Cross reference
- focal segmental glomerulosclerosis 1 [DO Concept]
Genes related to phenotype
- Actinin, alpha-4 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Edema [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Hyperlipidemia [HPO term]
- Hypertension [HPO term]
- Hypoalbuminemia [HPO term]
- Incomplete penetrance [HPO term]
- Proteinuria [HPO term]
- Slowly progressive [HPO term]
- Stage 5 chronic kidney disease [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]
UMLS correspondences (same concept)
- Segmental glomerulosclerosis [MeSH concept]
- Segmental glomerulosclerosis (morphologic abnormality) [SNOMED CT concept]
- focal segmental glomerulosclerosis 1 [DO Concept]
- segmental glomerulosclerosis [MeSH Supplementary Concept]
- segmental glomerulosclerosis [SNOMED Notion]
Validated automatic mappings to NTBT
- Segmental glomerulosclerosis [MeSH concept]
- Segmental glomerulosclerosis (morphologic abnormality) [SNOMED CT concept]
- segmental glomerulosclerosis [SNOMED Notion]
- segmental glomerulosclerosis [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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