Details of Disease

General Information of Disease (ID: DISJTXG4)

Disease Name Focal segmental glomerulosclerosis 1
Synonyms
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis; glomerulosclerosis, focal segmental, 1; focal segmental glomerulosclerosis type 1; focal segmental glomerulosclerosis caused by mutation in ACTN4; familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis; FSGS1; focal segmental glomerulosclerosis 1; ACTN4 focal segmental glomerulosclerosis
Definition Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.
Disease Hierarchy
DISQ53RS: Familial idiopathic steroid-resistant nephrotic syndrome
DISCPRVI: Inherited focal segmental glomerulosclerosis
DISJTXG4: Focal segmental glomerulosclerosis 1
Disease Identifiers
MONDO ID
MONDO_0011303
MESH ID
C538457
UMLS CUI
C4551527
OMIM ID
603278
MedGen ID
1636833

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACTN4 OTCNZAJ5 Strong Autosomal dominant [1]
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References

1 Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet. 2000 Mar;24(3):251-6. doi: 10.1038/73456.