1. Mendelian
  2. Rare Diseases
  3. VESICOURETERAL REFLUX 1; VUR1

Vesicoureteral Reflux 1; Vur1

Table of contents:

Description

Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral RefluxA locus designated VUR1 maps to chromosome 1p13. VUR2 (OMIM ) is caused by mutation in the ROBO2 gene (OMIM ) on chromosome 3p12; VUR3 (OMIM ) is caused by mutation in the SOX17 gene (OMIM ) on chromosome 8q11; VUR4 (OMIM ) maps to chromosome 5; VUR5 (OMIM ) maps to chromosome 13; VUR6 (OMIM ) maps to chromosome 18; VUR7 (OMIM ) maps to chromosome 12; and VUR8 (OMIM ) is caused by mutation in the TNXB gene (OMIM ) on chromosome 6p21. A possible X-linked form has been reported (VURX ).

Clinical Features

Top most frequent phenotypes and symptoms related to Vesicoureteral Reflux 1; Vur1

  • Hypertension
  • Abnormality of the skeletal system
  • Renal insufficiency
  • Proteinuria
  • Abnormality of the kidney
  • Scarring
  • Coloboma
  • Stage 5 chronic kidney disease
  • Nephropathy
  • Vesicoureteral reflux

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

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Sources and references

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OMIM Rare Disease Symptoms Checker

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