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

Sources

Aliases & Classifications for Vesicoureteral Reflux 3

MalaCards integrated aliases for Vesicoureteral Reflux 3:

Name: Vesicoureteral Reflux 3 ⁵⁸ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Vur3 ⁵⁸ ⁷⁶

Reflux, Vesicoureteral, Type 3 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
onset in utero or in infancy

HPO:

³³

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 ⁵⁸ 613674

MeSH ⁴⁵ D014718

MedGen ⁴³ C3150927

SNOMED-CT via HPO ⁷⁰ 197811007 263681008 43064006 more

UMLS ⁷⁴ C3150927

Sources

Summaries for Vesicoureteral Reflux 3

UniProtKB/Swiss-Prot : ⁷⁶ 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 17). Affiliated tissues include kidney, and related phenotypes are vesicoureteral reflux and polyhydramnios

Description from OMIM: 613674

Sources

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

Sources

Symptoms & Phenotypes for Vesicoureteral Reflux 3

Human phenotypes related to Vesicoureteral Reflux 3:

³³

#	Description	HPO Source Accession
1	vesicoureteral reflux ³³	HP:0000076
2	polyhydramnios ³³	HP:0001561
3	hydronephrosis ³³	HP:0000126
4	hydroureter ³³	HP:0000072

Symptoms via clinical synopsis from OMIM:

⁵⁸

Genitourinary Bladder:
vesicoureteral reflux

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary Ureters:
megaureter
ureteral dilatation

Clinical features from OMIM:

613674

Sources

Drugs & Therapeutics for Vesicoureteral Reflux 3

Search Clinical Trials , NIH Clinical Center for Vesicoureteral Reflux 3

Sources

Genetic Tests for Vesicoureteral Reflux 3

Genetic tests related to Vesicoureteral Reflux 3:

#	Genetic test	Affiliating Genes
1	Vesicoureteral Reflux 3 ³⁰	SOX17

Sources

Anatomical Context for Vesicoureteral Reflux 3

MalaCards organs/tissues related to Vesicoureteral Reflux 3:

⁴²

Kidney

Sources

Publications for Vesicoureteral Reflux 3

Articles related to Vesicoureteral Reflux 3:

#	Title	Authors	Year
1	Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. ( 28566479 )	Heidet L...Jeanpierre C	2017
2	Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. ( 20960469 )	Gimelli S...Ghiggeri GM	2010
3	Change of urodynamic patterns in infants with dilating vesicoureteral reflux: 3-year followup. ( 19765771 )	Sj?str?m S...Sill?n U	2009

Sources

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 17	Protein Coding	1327.88	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	20960469 28566479

Sources

Variations for Vesicoureteral Reflux 3

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

⁷⁶

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

ClinVar genetic disease variations for Vesicoureteral Reflux 3:

⁶

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

Sources

Expression for Vesicoureteral Reflux 3

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

Sources

Pathways for Vesicoureteral Reflux 3

Sources

GO Terms for Vesicoureteral Reflux 3

Sources

Sources for Vesicoureteral Reflux 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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

ClinVar 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