Focal segmental glomerulosclerosis 6

Preferred Label : Focal segmental glomerulosclerosis 6;

Symbol : FSGS6;

CISMeF acronym : FSGS6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glomerulosclerosis, focal segmental, 6;

Description : Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by Mele et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myosin IE gene (MYO1E, 601479.0001);

Laboratory abnormalities : Proteinuria; Hematuria; Hypoalbuminemia;

Prefixed ID : #614131;

Details

Origin ID

614131;

UMLS CUI

C3279905;

Automatic exact mappings (from CISMeF team)
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis [ORDO Disease]
- MYO1E wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- focal segmental glomerulosclerosis 6 [DO Concept]
DO Cross reference
- focal segmental glomerulosclerosis 6 [DO Concept]
Genes related to phenotype
- Myosin ie [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Chronic kidney disease [HPO term]
- Edema [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Hematuria [HPO term]
- Hypoalbuminemia [HPO term]
- Nephrotic syndrome [HPO term]
- Progressive [HPO term]
- Proteinuria [HPO term]
- Renal tubular atrophy [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 6 [DO Concept]

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