Vesicoureteral reflux 1

Preferred Label : Vesicoureteral reflux 1;

Symbol : VUR1;

CISMeF acronym : VUR; VUR1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : VUR;

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 Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12.3; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11.23; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; and VUR7 (615390) maps to chromosome 12. A possible X-linked form has been reported (VURX; 314550).;

Inheritance : Autosomal dominant;

Prefixed ID : %193000;

Détails

Origin ID

193000;

UMLS CUI

C4551858;

Automatic exact mappings (from CISMeF team)
- vesico-ureteral reflux [MeSH Descriptor]
DO Cross reference
- vesicoureteral reflux [DO Concept]
HPO term(s)
- Abnormality of the skeletal system [HPO term]
- Autosomal dominant inheritance [HPO term]
- Multifactorial inheritance [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Familial vesicoureteral reflux [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ureteric reflux [MedDRA LLT]
- Vesico-Ureteral reflux [MeSH concept]
- Vesicoureteral Reflux [NCIt concept]
- Vesicoureteral reflux [MedDRA LLT]
- Vesicoureteral reflux [ICD-9 code]
- Vesicoureteral reflux [HPO term]
- Vesicoureteral reflux [PASCAL descriptor]
- Vesicoureteral-reflux [ICD-10 Sub-category]
- Vesicoureteric reflux [MedDRA Preferred Term]
- Vesicoureteric reflux (disorder) [SNOMED CT concept]
- vesico-ureteral reflux [MeSH Descriptor]
- vesico-ureteral reflux [Disease (Nov.)]
- vesico-ureteric reflux [SNOMED Notion]
- vesicoureteral reflux [Radlex concept]
- vesicoureteral reflux [DO Concept]
Validated automatic mappings to NTBT
- vesico-ureteral reflux [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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