General Information of Disease (ID: DISUME5E)

Disease Name Familial vesicoureteral reflux
Synonyms familial VUR; hereditary vesicoureteral reflux (disease)
Definition
Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.
Disease Hierarchy
DISUL6SA: Vesicoureteral reflux
DISYKSRF: Genetic disease
DISUME5E: Familial vesicoureteral reflux
Disease Identifiers
MONDO ID
MONDO_0017329
UMLS CUI
C4706552
MedGen ID
1637583
Orphanet ID
289365
SNOMED CT ID
763716008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ROBO2 OTFJ9FQW Supportive Autosomal dominant [1]
SOX17 OT9H4WWE Supportive Autosomal dominant [2]
TNXB OTVBWAV5 Supportive Autosomal dominant [3]
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References

1 Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet. 2007 Apr;80(4):616-32. doi: 10.1086/512735. Epub 2007 Feb 14.
2 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.
3 TNXB mutations can cause vesicoureteral reflux. J Am Soc Nephrol. 2013 Jul;24(8):1313-22. doi: 10.1681/ASN.2012121148. Epub 2013 Apr 25.