VESICOURETERAL REFLUX 3

General Information (adopted from Orphanet):

Synonyms, Signs: VUR3
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613674
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000072) Hydroureter 146 / 7739
2
(HPO:0000126) Hydronephrosis 119 / 7739
3
(HPO:0000076) Vesicoureteral reflux 94 / 7739
4
(HPO:0001561) Polyhydramnios 191 / 7739
5
(OMIM) Renal scarring 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Duplication of the renal pelvis (1 patient) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gimelli et al. (2010) reported 2 unrelated families with vesicoureteral reflux associated in some cases with renal scarring and/or congenital anomalies of the kidney and urinary tract (CAKUT). In the first family, the young female proband had congenital ...
Molecular genetics OMIM By candidate gene sequencing of a duplicated region of chromosome 8q11-q12 in a female patient with VUR, Gimelli et al. (2010) identified a heterozygous mutation in the SOX17 gene (Y259N; 610928.0001). The same heterozygous mutation was found in ...