Vesicoureteral Reflux 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Vesicoureteral Reflux 3

MalaCards integrated aliases for Vesicoureteral Reflux 3:

Name: Vesicoureteral Reflux 3 ⁵⁷ ⁷⁴ ²⁹ ¹³ ⁶ ⁷²

Vur3 ⁵⁷ ⁷⁴

Reflux, Vesicoureteral, Type 3 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset in utero or in infancy

HPO:

³²

vesicoureteral reflux 3:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613674 PS193000

MeSH ⁴⁴ D014718

MedGen ⁴² C3150927

UMLS ⁷² C3150927

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Summaries for Vesicoureteral Reflux 3

UniProtKB/Swiss-Prot : ⁷⁴ Vesicoureteral reflux 3: A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.

MalaCards based summary : Vesicoureteral Reflux 3, is also known as vur3. An important gene associated with Vesicoureteral Reflux 3 is SOX17 (SRY-Box Transcription Factor 17). Affiliated tissues include kidney, and related phenotypes are polyhydramnios and vesicoureteral reflux

More information from OMIM: 613674 PS193000

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Related Diseases for Vesicoureteral Reflux 3

Diseases in the Familial Vesicoureteral Reflux family:

Vesicoureteral Reflux 1	Vesicoureteral Reflux 2
Vesicoureteral Reflux 3	Vesicoureteral Reflux 4
Vesicoureteral Reflux 5	Vesicoureteral Reflux 6
Vesicoureteral Reflux 7	Vesicoureteral Reflux 8

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Symptoms & Phenotypes for Vesicoureteral Reflux 3

Human phenotypes related to Vesicoureteral Reflux 3:

³²

#	Description	HPO Source Accession
1	polyhydramnios ³²	HP:0001561
2	vesicoureteral reflux ³²	HP:0000076
3	hydronephrosis ³²	HP:0000126
4	hydroureter ³²	HP:0000072

Symptoms via clinical synopsis from OMIM:

⁵⁷

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary Kidneys:
hydronephrosis
renal scarring
duplication of the renal pelvis (1 patient)

Genitourinary Bladder:
vesicoureteral reflux

Genitourinary Ureters:
megaureter
ureteral dilatation

Clinical features from OMIM:

613674

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Drugs & Therapeutics for Vesicoureteral Reflux 3

Search Clinical Trials , NIH Clinical Center for Vesicoureteral Reflux 3

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Genetic Tests for Vesicoureteral Reflux 3

Genetic tests related to Vesicoureteral Reflux 3:

#	Genetic test	Affiliating Genes
1	Vesicoureteral Reflux 3 ²⁹	SOX17

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Anatomical Context for Vesicoureteral Reflux 3

MalaCards organs/tissues related to Vesicoureteral Reflux 3:

⁴¹

Kidney

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Publications for Vesicoureteral Reflux 3

Articles related to Vesicoureteral Reflux 3:

#	Title	Authors	PMID	Year
1	Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. ⁸ ⁷¹	Gimelli S...Ghiggeri GM	20960469	2010
2	Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. ⁷¹	Heidet L...Jeanpierre C	28566479	2017
3	Pediatric procedures in urology residency training: An analysis of the experience of Canadian urology residents. ³⁸	Gustafson P...MacNeily A	25408795	2014
4	Chronic peritoneal dialysis in children with special needs or social disadvantage or both: contraindications are not always contraindications. ³⁸	Aksu N...Anil AB	22045099	2012
5	Urologic complications in more than 2500 kidney transplantations performed at the Saint Barnabas healthcare system. ³⁸	Whang M...Mulgaonkar S	21693244	2011
6	Change of urodynamic patterns in infants with dilating vesicoureteral reflux: 3-year followup. ³⁸	Sjostrom S...Sillen U	19765771	2009
7	Kidney growth and renal function in unilateral multicystic dysplastic kidney disease. ³⁸	John U...Misselwitz J	9761356	1998
8	Relationship among vesicoureteral reflux, P-fimbriated Escherichia coli, and acute pyelonephritis in children with febrile urinary tract infection. ³⁸	Majd M...Wiedermann BL	1681043	1991
9	Mortality and morbidity in pretransplant bilateral nephrectomy: analysis of 305 cases. ³⁸	Yarimizu SN...Nakamoto SS	356390	1978

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Genes for Vesicoureteral Reflux 3

Genes related to Vesicoureteral Reflux 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SOX17	SRY-Box Transcription Factor 17	Protein Coding	1327.82	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	28566479 20960469

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Variations for Vesicoureteral Reflux 3

ClinVar genetic disease variations for Vesicoureteral Reflux 3:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	SOX17	SOX17, 6-BP INS, NT51	insertion	Pathogenic
2	SOX17	NM_022454.4(SOX17): c.532G> T (p.Gly178Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs267607082	8:55371842-55371842	8:54459282-54459282
3	SOX17	NM_022454.4(SOX17): c.775T> A (p.Tyr259Asn)	single nucleotide variant	Likely benign	rs267607083	8:55372085-55372085	8:54459525-54459525

UniProtKB/Swiss-Prot genetic disease variations for Vesicoureteral Reflux 3:

⁷⁴

#	Symbol	AA change	Variation ID	SNP ID
1	SOX17	p.Gly178Cys	VAR_065169	rs267607082
2	SOX17	p.Tyr259Asn	VAR_065170	rs267607083

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Expression for Vesicoureteral Reflux 3

Search GEO for disease gene expression data for Vesicoureteral Reflux 3.

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Pathways for Vesicoureteral Reflux 3

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GO Terms for Vesicoureteral Reflux 3

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⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Vesicoureteral Reflux 3 (VUR3)

Aliases & Classifications for Vesicoureteral Reflux 3

MalaCards integrated aliases for Vesicoureteral Reflux 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Vesicoureteral Reflux 3

Related Diseases for Vesicoureteral Reflux 3

Diseases in the Familial Vesicoureteral Reflux family:

Symptoms & Phenotypes for Vesicoureteral Reflux 3

Human phenotypes related to Vesicoureteral Reflux 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Vesicoureteral Reflux 3

Genetic Tests for Vesicoureteral Reflux 3

Genetic tests related to Vesicoureteral Reflux 3:

Anatomical Context for Vesicoureteral Reflux 3

MalaCards organs/tissues related to Vesicoureteral Reflux 3:

Publications for Vesicoureteral Reflux 3

Articles related to Vesicoureteral Reflux 3:

Genes for Vesicoureteral Reflux 3

Genes related to Vesicoureteral Reflux 3 (1 elite genes):

Variations for Vesicoureteral Reflux 3

ClinVar genetic disease variations for Vesicoureteral Reflux 3:

UniProtKB/Swiss-Prot genetic disease variations for Vesicoureteral Reflux 3:

Expression for Vesicoureteral Reflux 3

Pathways for Vesicoureteral Reflux 3

GO Terms for Vesicoureteral Reflux 3

Sources for Vesicoureteral Reflux 3