Details of Disease

General Information of Disease (ID: DIS5XCZD)

Disease Name Focal segmental glomerulosclerosis 3, susceptibility to
Synonyms
susceptibility to focal segmental glomerulosclerosis 3; glomerulosclerosis, focal segmental, 3, susceptibility to; FSGS3; CD2AP focal segmental glomerulosclerosis; focal segmental glomerulosclerosis 3, susceptibility to; glomerulosclerosis, focal segmental, 3; focal segmental glomerulosclerosis caused by mutation in CD2AP
Definition Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene.
Disease Hierarchy
DIS98MYE: Inherited disease susceptibility
DIS5XCZD: Focal segmental glomerulosclerosis 3, susceptibility to
Disease Identifiers
MONDO ID
MONDO_0011917
UMLS CUI
C1842982
OMIM ID
607832
MedGen ID
335850

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
CD2AP OTC76KQM Strong Autosomal dominant [1]
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References

1 Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science. 1999 Oct 8;286(5438):312-5. doi: 10.1126/science.286.5438.312.