VESICOURETERAL REFLUX 2

General Information (adopted from Orphanet):

Synonyms, Signs: VUR2
Number of Symptoms 3
OrphanetNr:
OMIM Id: 610878
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:0000089) Renal hypoplasia 17357069 IBIS 78 / 7739
2
(HPO:0000076) Vesicoureteral reflux 17357069 IBIS 94 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lu et al. (2007) described 2 families in which autosomal dominant inheritance of vesicoureteral reflux (VUR) was associated with mutation in the ROBO2 gene. The first was a Caucasian British family in which the affected daughter had bilateral ...
Molecular genetics OMIM Lu et al. (2007) investigated a man with a de novo translocation, 46,X,t(Y;3);(p11;p12)dn, who exhibited multiple congenital abnormalities, including severe bilateral VUR with ureterovesical junction defects. This translocation disrupted ROBO2 (602431), which encodes a transmembrane receptor for SLIT ...