Details of Disease

General Information of Disease (ID: DIS4YKU8)

Disease Name Vesicoureteral reflux 3
Synonyms VUR3; vesicoureteral reflux (disease) caused by mutation in SOX17; vesicoureteral reflux type 3; SOX17 vesicoureteral reflux (disease); vesicoureteral reflux 3
Definition Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.
Disease Hierarchy
DISUME5E: Familial vesicoureteral reflux
DIS4YKU8: Vesicoureteral reflux 3
Disease Identifiers
MONDO ID
MONDO_0013356
UMLS CUI
C3150927
OMIM ID
613674
MedGen ID
462277

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
SOX17 OT9H4WWE Definitive Autosomal dominant [1]
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References

1 Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. Hum Mutat. 2010 Dec;31(12):1352-9. doi: 10.1002/humu.21378. Epub 2010 Nov 9.