Vesicoureteral reflux (VUR) is one of the more common genetic disorders characterized by regurgitation of urine from the bladder to the kidney. The phenotype is associated with shortness of the sub-mucosal segment of the urethra due to congenital lateral ectopia of the ureteric orifice. Vesicoureteric reflux may be an isolated anomaly or associated with other congenital anomalies such as posterior urethral valves or complete duplication of the urinary tract.
Family studies suggest different modes of inheritance of vesicoureteric reflux, including a dominant single gene and polygenic inheritance. Genome-wide search has identified a 20-cM locus on chromosome 1 that is highly suggestive of linkage in VUR1 patients.