Details of Disease

General Information of Disease (ID: DIS3S9HO)

Disease Name Focal segmental glomerulosclerosis 5
Synonyms
glomerulosclerosis, focal segmental, 5; focal segmental glomerulosclerosis 5; focal segmental glomerulosclerosis type 5; FSGS5; INF2 focal segmental glomerulosclerosis; focal segmental glomerulosclerosis caused by mutation in INF2
Definition Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.
Disease Hierarchy
DISCPRVI: Inherited focal segmental glomerulosclerosis
DIS3S9HO: Focal segmental glomerulosclerosis 5
Disease Identifiers
MONDO ID
MONDO_0013191
MESH ID
C567687
UMLS CUI
C2750475
OMIM ID
613237
MedGen ID
413315

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
INF2 OT8ZM13C Strong Autosomal dominant [1]
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References

1 Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet. 2010 Jan;42(1):72-6. doi: 10.1038/ng.505. Epub 2009 Dec 20.