Familial vesicoureteral reflux

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Familial vesicoureteral reflux

ORPHA:289365Malformation syndrome

Also called Familial VUR

What it is

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.

Key facts

Age of onset
All ages
Inheritance
Autosomal dominant
Classified as
Malformation syndrome

Genes

ROBO2Disease-causing germline mutation(s)
SOX17Disease-causing germline mutation(s)
TNXBDisease-causing germline mutation(s)

ICD-10 codes

N13.7filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0017329OMIM 193000OMIM 610878OMIM 613674OMIM 614317OMIM 614318OMIM 614319OMIM 615390OMIM 615963UMLS C4706552

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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