Details of Disease

General Information of Disease (ID: DIS80WYW)

Disease Name Focal segmental glomerulosclerosis 4, susceptibility to
Synonyms
FSGS4; end-stage renal disease, nondiabetic, susceptibility to; susceptibility to focal segmental glomerulosclerosis 4; focal segmental glomerulosclerosis caused by mutation in APOL1; APOL1 focal segmental glomerulosclerosis; focal segmental glomerulosclerosis 4, susceptibility to; glomerulosclerosis, focal segmental, 4, susceptibility to
Definition Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene.
Disease Hierarchy
DIS98MYE: Inherited disease susceptibility
DIS80WYW: Focal segmental glomerulosclerosis 4, susceptibility to
Disease Identifiers
MONDO ID
MONDO_0012931
UMLS CUI
C2675525
OMIM ID
612551
MedGen ID
390820

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
APOL1 TTDB8PW Limited SusceptibilityMutation [1]
APOL1 TTDB8PW Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APOL1 OT8QBVTY Definitive Autosomal recessive [2]
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References

1 Association of trypanolytic ApoL1 variants with kidney disease in African Americans.Science. 2010 Aug 13;329(5993):841-5. doi: 10.1126/science.1193032. Epub 2010 Jul 15.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.