Disease #02990 (VUR-2 (reflux, vesicoureteral, type 2 (VUR-2)), OMIM:610878)

Official abbreviation	VUR-2
Name	reflux, vesicoureteral, type 2 (VUR-2)
OMIM ID	610878
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	3
Phenotype entries for this disease	3
Associated with 1 gene	ROBO2
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
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Algeria
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American Samoa
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Angola
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Cambodia
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Cameroon
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Canada
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Central African Republic
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Central Europe
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(Chad)
Chile
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China
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Christmas Island
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Colombia
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Romania
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Singapore
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Slovakia (Slovak Republic)
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Cunha
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Cunha)
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Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tanzania
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Thailand
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Tonga
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Trinidad and Tobago
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Tunisia
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Turkey
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Turkmenistan
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Tuvalu
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Uganda
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Ukraine
(Ukraine)
United Arab Emirates
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United Kingdom (Great Britain)
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Uruguay
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US Minor Outlying Islands
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Virgin Islands (US)
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Wales
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Wallis and Futuna Islands
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Western Sahara
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Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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3 entries on 1 page. Showing entries 1 - 3.

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How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00050100	-	PubMed: Lu 2007, Journal: Lu 2007	2-generation family, affected mother/daugther	F	yes	United Kingdom (Great Britain)	-	-	-	-	VUR-2	see paper; congenital anomalies kidney and urinary tract incl. vesicoureteral reflux; daugther bilateral VUR, hypoplastic kidneys, nephropathy; mother required ureteral reimplantation for severe VUR; ...	ROBO2	ROBO2	1	2	Johan den Dunnen
00050101	-	PubMed: Lu 2007, Journal: Lu 2007	3-generation family, 5 affecteds (duagther, mother, 2 aunts, grandmother)	F	no	Netherlands	-	-	-	-	VUR-2	see paper; proband bilateral VUR, right duplex collecting system and kidney; mother and two aunts urinary tract symptoms, ultrasonographical evidence of CAKUT; grandmother unilateral small kidney; ...	ROBO2	ROBO2	1	5	Johan den Dunnen
00050103	-	PubMed: Lu 2007, Journal: Lu 2007	-	M	-	-	-	>18y	-	-	VUR-2	see paper; bilateral high-grade VUR, right megaureter at UVJ; 9y-required ureteral reimplantation surgery; wide-open right/left ureteral orifices due to bilateral absence of intravesical ureteral segments, ...	PCDH11Y, ROBO2	PCDH11Y, RAI1, ROBO2	5	1	Johan den Dunnen

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