Focal segmental glomerulosclerosis 8

Preferred Label : Focal segmental glomerulosclerosis 8;

Symbol : FSGS8;

CISMeF acronym : FSGS8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glomerulosclerosis, focal segmental, 8;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the actin-binding protein anillin gene (ANLN, 616027.0001);

Laboratory abnormalities : Proteinuria;

Prefixed ID : #616032;

Details

Origin ID

616032;

UMLS CUI

C4014993;

Automatic exact mappings (from CISMeF team)
- ANLN wt Allele [NCIt concept]
CISMeF manual mappings
- focal segmental glomerulosclerosis 8 [DO Concept]
DO Cross reference
- focal segmental glomerulosclerosis 8 [DO Concept]
Genes related to phenotype
- Actin-binding protein anillin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- focal segmental glomerulosclerosis 8 [DO Concept]

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