Details of Disease

General Information of Disease (ID: DISD93RH)

Disease Name Focal segmental glomerulosclerosis 8
Synonyms
glomerulosclerosis, focal segmental, 8; focal segmental glomerulosclerosis caused by mutation in ANLN; focal segmental glomerulosclerosis 8; focal segmental glomerulosclerosis type 8; FSGS8; ANLN focal segmental glomerulosclerosis
Definition Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene.
Disease Hierarchy
DISCPRVI: Inherited focal segmental glomerulosclerosis
DISD93RH: Focal segmental glomerulosclerosis 8
Disease Identifiers
MONDO ID
MONDO_0014462
UMLS CUI
C4014993
OMIM ID
616032
MedGen ID
863430

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
ANLN OTXJY54C Strong Autosomal dominant [1]
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References

1 Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. J Am Soc Nephrol. 2014 Sep;25(9):1991-2002. doi: 10.1681/ASN.2013090976. Epub 2014 Mar 27.