Familial vesicoureteral reflux
Synonyms: Familial VUR
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial vesicoureteral reflux | Familial VUR |
| fr | Reflux vésico-urétéral familial | RVU familial · VUR familial |
| de | Vesicoureteraler Reflux, familiäre Form | Familiärer VUR |
| es | Reflujo vesicoureteral familiar | VUR familiar |
| it | Reflusso vescico-ureterale familiare | VUR familiare |
| nl | Familiale vesico-ureterale reflux | Familiale VUR |
| pt | Refluxo vesico-ureteral familiar | VUR familiar |
| pl | Rodzinny refluks pęcherzowo-cewkowy | Rodzinny VUR |
| cs | Familiární vezikoureterální reflux | Familiární VUR |
| uk | Сімейний міхурово-сечовідний рефлюкс | Сімейний VUR |
| zh | 家族性膀胱输尿管反流 | 家族性膀胱输尿管反流 |
| tr | Ailesel vezikoüreteral reflü | Ailesel VUR |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193000 | NTBT | validated | |
| OMIM | 610878 | BTNT | validated | |
| OMIM | 613674 | BTNT | validated | |
| OMIM | 614317 | BTNT | validated | |
| OMIM | 614318 | BTNT | validated | |
| OMIM | 614319 | BTNT | validated | |
| OMIM | 615390 | BTNT | validated | |
| OMIM | 615963 | BTNT | validated | |
| ICD-10 | N13.7 | NTBT | attributed | validated |
| ICD-11 | GB56.5 | NTBT | attributed | validated |
| MONDO | 0017329 | E | validated | |
| UMLS | C4706552 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:156622Genetic urogenital tract malformation
rare genetic diseases - ORPHA:93546Non-syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders - ORPHA:182124Non-syndromic urogenital tract malformation of male and female
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare transplant-related disorders
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ROBO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10250 | ENSG00000185008 | 602431 | 3p12.3 | roundabout guidance receptor 2 | 17357069[PMID] |
| SOX17 | Disease-causing germline mutation(s) in | Assessed | HGNC:18122 | ENSG00000164736 | 610928 | 8q11.23 | SRY-box transcription factor 17 | 20960469[PMID] |
| TNXB | Disease-causing germline mutation(s) in | Assessed | HGNC:11976 | ENSG00000168477 | 600985 | 6p21.33-p21.32 | tenascin XB | 23620400[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289365
- This record as JSON: /data/d/289365.json