MCID: VCT001
MIFTS: 63

Vacterl Association malady

Nephrological diseases, Fetal diseases categories

Summaries for Vacterl Association

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Vacterl association is a non-random association of birth defects that affects multiple parts of the body. the term vacterl is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (v) = vertebral abnormalities; (a) = anal atresia; (c) = cardiac (heart) defects; (t) = tracheal anomalies including tracheoesophageal (te) fistula; (e) = esophageal atresia; (r) = renal (kidney) and radial (thumb side of hand) abnormalities; and (l) = other limb abnormalities. other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. intelligence is usually normal. the exact cause of vacterl association is unknown; most cases occur randomly, for no apparent reason. last updated: 12/26/2010

MalaCards: Vacterl Association, also known as vater association, is related to esophageal atresia and imperforate anus, and has symptoms including megaureter/hydronephrosis/pyeloureteral junction syndrome, urethral anomalies/stenosis/posterior urethral valves/megalocystis and hypospadias/epispadias/bent penis. An important gene associated with Vacterl Association is HOXD13 (homeobox D13), and among its related pathways are Hedgehog Signaling Pathway and Hedgehog signaling events mediated by Gli proteins. The compounds sant-1 and 20(s)-hydroxycholesterol have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and testes, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

Disease Ontology:8 A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

Genetics Home Reference:21 VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association.

Wikipedia:63 The VACTERL association (also VATER syndrome) refers to the non-random co-occurrence of birth defects... more...

Description from OMIM:46 192350,276950

Aliases & Classifications for Vacterl Association

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Nephrological diseases


Characteristics (Orphanet epidemiological data):

48
vacterl association:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

vacterl association 8 9 42 22 21 46 10 48 60
vater association 8 42 20 22 21 48 60
vacterl/vater association 8 48


External Ids:

Disease Ontology8 DOID:14679
MeSH34 C536534
MESH via Orphanet35 C536495, C536534
SNOMED-CT56 205830006, 27742002
ICD10 via Orphanet26 Q87.2
SNOMED-CT via Orphanet57 27742002
UMLS via Orphanet61 C0220708, C1735591

Related Diseases for Vacterl Association

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17GeneCards, 18GeneDecks
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Diseases related to Vacterl Association via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1esophageal atresia30.4MTHFSD, SHH, HOXA3, TEF
2imperforate anus30.2TEF
3congenital diaphragmatic hernia30.0TEF
4polydactyly30.0HOXD13, GLI1, SHH
5esophagitis10.4
6vacterl association with hydrocephaly, x-linked10.3
7vacterl association with hydrocephalus10.3
8vacterl association, x-linked, with or without hydrocephalus10.2
9urethritis10.2
10fanconi's anemia10.2
11hydrocephalus10.2
12vacterl with hydrocephalus, fancb-related10.2
13vacterl association, x-linked10.2
14vater association with macrocephaly and ventriculomegaly10.1
15arteriovenous fistula10.0
16renal agenesis10.0
17arachnoiditis10.0
18pancytopenia10.0
19fanconi syndrome10.0
20baller-gerold syndrome10.0
21scimitar syndrome10.0
22tetralogy of fallot10.0
23biotinidase deficiency10.0
24duodenitis10.0
25duane retraction syndrome10.0
26congenital heart defect10.0
27kidney disease10.0
28laryngitis10.0
29lipoma10.0
30neonatal anemia10.0
31esophageal atresia/tracheoesophageal fistula10.0
32vacterl hydrocephaly10.0
33neurofibromatosis10.0
34renovascular hypertension10.0
35somatostatinoma10.0
36coats disease10.0
37adenoma10.0
38conjunctivitis10.0
39hypertension10.0
40fanconi anemia, complementation group a10.0
41macrocephaly/autism syndrome10.0PTEN
42bannayan-riley-ruvalcaba syndrome10.0PTEN
43clubfoot10.0HOXD13
44hypospadias10.0HOXD13
45pallister-hall syndrome10.0SHH, GLI1
46gastroschisis10.0HOXB5
47cowden disease10.0PTEN
48chondroma10.0LPP
49nevoid basal cell carcinoma syndrome10.0GLI1, SHH
50leukemia10.0HOXD13, HOXC4, HOXA5, HOXB3, TEF, TEP1

Graphical network of the top 20 diseases related to Vacterl Association:



Diseases related to vacterl association

Clinical Features for Vacterl Association

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46OMIM, 48Orphanet
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Clinical features from OMIM:

192350,276950

Clinical synopsis from OMIM:

192350

Symptoms:

48 (show all 42)
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • hypospadias/epispadias/bent penis
  • multicystic kidney/renal dysplasia
  • single umbilical artery
  • structural anomalies of the pancreas
  • gallbladder/common bile duct anomalies
  • anus/rectum anomalies
  • ambiguous genitalia
  • uterine/uterus/fallopian tubes anomalies
  • micropenis/small penis/agenesis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • bifid scrotum
  • anencephaly/acrania
  • encephalocele/exencephaly
  • intrauterine growth retardation
  • prematurity
  • cavernous/tuberous hemangioma
  • preaxial polydactyly (hand)
  • congenital cardiac anomaly/malformation/cardiopathy
  • diaphragmatic hernia/defect/agenesis
  • laryngomalacia
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • vertebral segmentation anomaly/hemivertebrae
  • polyhydramnios
  • stillbirth/neonatal death
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • tracheal atresia/stenosis
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • cardiac septal defect
  • agenesis/hypoplasia/aplasia of kidneys
  • syndactyly of fingers/interdigital palm
  • omphalocele/exomphalos
  • sacro-coccyx/sacrum anomaly
  • intervertebral disk anomaly
  • anomalies of the ribs
  • low set ears/posteriorly rotated ears
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • large fontanelle/delayed fontanelle closure
  • ectopic/horseshoe/fused kidneys
  • tracheo-esophageal fistula/esophageal atresia/stenosis

Drugs & Therapeutics for Vacterl Association

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Vacterl Association

Genetic Tests for Vacterl Association

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20GeneTests, 22GTR
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Genetic tests related to Vacterl Association:

id Genetic test Affiliating Genes
1 Vater Association20 22
2 Vacterl Association22

Anatomical Context for Vacterl Association

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32MalaCards
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MalaCards organs/tissues related to Vacterl Association:

32
Kidney, Heart, Testes, Lung, Pancreas, Uterus, Trachea

Animal Models for Vacterl Association or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Vacterl Association:

36 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.7ZIC3, IFT172, GLI1, HOXD13
2MP:00053799.2FOXL1, HOXD13, HOXD3, HOXA3, HOXA5, HOXB3
3MP:00030128.9SHH, EFNB2, GLI1, HOXB5, HOXD13, HOXA5
4MP:00053698.8PTEN, HOXC4, HOXA3, HOXD13, EFNB2, SHH
5MP:00053678.8IFT172, SHH, EFNB2, GLI1, HOXD13, PTEN
6MP:00053918.7ZIC3, IFT172, SHH, EFNB2, HOXD13, HOXA5
7MP:00028738.6ZIC3, SHH, EFNB2, GLI1, HOXA5, HOXB3
8MP:00036318.5ZIC3, IFT172, EFNB2, GLI1, HOXD3, HOXA3
9MP:00053898.5ZIC3, LPP, SHH, EFNB2, GLI1, HOXD13
10MP:00053808.5ZIC3, IFT172, FOXF1, SHH, EFNB2, GLI1
11MP:00053858.3ZIC3, IFT172, FOXF1, SHH, EFNB2, HOXD3
12MP:00053788.2ZIC3, FOXL1, SHH, EFNB2, GLI1, HOXD13
13MP:00053978.2ZIC3, SHH, EFNB2, HOXD3, HOXA3, HOXC4
14MP:00053878.1ZIC3, SHH, EFNB2, HOXD3, HOXA3, HOXC4
15MP:00053828.1ZIC3, IFT172, SHH, EFNB2, HOXD3, HOXA3
16MP:00053887.7ZIC3, IFT172, FOXF1, SHH, EFNB2, GLI1
17MP:00053817.6PTEN, ZIC3, IFT172, FOXF1, FOXL1, SHH
18MP:00053847.6IFT172, FOXL1, LPP, SHH, EFNB2, GLI1
19MP:00053907.4HOXB5, EFNB2, SHH, IFT172, ZIC3, HOXD13
20MP:00107686.5EFNB2, SHH, LPP, FOXL1, FOXF1, IFT172

Publications for Vacterl Association

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50PubMed
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Articles related to Vacterl Association:

(show top 50)    (show all 132)
idTitleAuthorsYear
1
VACTERL association with hydrocephalus in a fetus conceived by inA vitro fertilization and embryo transfer. (24411047)
2013
2
VACTERL (Vertebral Defects, Anal Atresia, Tracheoesophageal Fistula withA Esophageal Atresia, Cardiac Defects, Renal and Limb Anomalies) Association: Disease Spectrum in 25 Patients Ascertained for Their UpperA Limb Involvement. (24210691)
2013
3
Monochorionic twin fetus with VACTERL association after intracytoplasmic sperm injection. (23751045)
2013
4
Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association. (23901199)
2013
5
Adriamycin-Induced Models of VACTERL Association. (23653576)
2013
6
Considering the Embryopathogenesis of VACTERL Association. (23653571)
2013
7
Concomitant slide tracheoplasty and cardiac operation for congenital tracheal stenosis associated with VACTERL. (24088476)
2013
8
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. (24152966)
2013
9
Sporadic VACTERL association in a Japanese family with SjAPgren-Larsson syndrome. (23450279)
2013
10
Unusual variant of scimitar syndrome associated with an absent right pulmonary artery, stenosis of the inferior vena cava, hemi-azygous continuation and the VACTERL association. (23728126)
2013
11
Analysis of cardiac anomalies in VACTERL association. (24343877)
2013
12
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. (22639458)
2012
13
Clinical characteristics of neonates with VACTERL association. (22300427)
2012
14
Familial occurrence of the VATER/VACTERL association. (22422375)
2012
15
VACTERL association or VATER syndrome. (23155922)
2012
16
Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association. (22482989)
2012
17
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. (22895008)
2012
18
De novo microduplication at 22q11.21 in a patient with VACTERL association. (20849991)
2011
19
Staged male urethroplasty transferring megalourethra tissue as free graft dorsal inlay to proximal urethral atresia in VACTERL association. (21601242)
2011
20
VACTERL Association. (22315751)
2011
21
Analysis of component findings in 79 patients diagnosed with VACTERL association. (20683998)
2010
22
Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association. (20676578)
2010
23
Sporadic neonatal Fanconi's anemia with VACTERL association. (20158659)
2010
24
Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association. (20949626)
2010
25
An uncommon association of vacterl complex with hypertrophic pyloric stenosis and horseshoe lung. (20964119)
2010
26
Sirenomelia and VACTERL association in the offspring of a woman with diabetes. (20583159)
2010
27
Double cystic duct in a child with VACTERL association: a case report. (19954104)
2009
28
Bronchial anomalies in VACTERL association. (18671276)
2008
29
Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. (18186125)
2008
30
Congenital pulmonary sling, aorto-pulmonary window and pulmonary vein obstruction as a diagnostic and therapeutic challenge in an infant with VACTERL association. (16598388)
2006
31
Right esophageal lung in a preterm child with VACTERL association and Mayer-Rokitansky-Kuster-Hauser syndrome. (15592852)
2005
32
Umbilical cord allantoic cysts in a newborn with vacterl association. (15163871)
2004
33
VACTERL association with Prune-Belly syndrome. (15347875)
2004
34
Anesthetic management for a parturient affected by the VACTERL association. (14980963)
2004
35
Notochord anomalies in the adriamycin rat model: A morphologic and molecular basis for the VACTERL association. (12632369)
2003
36
Triphalangeal thumb in a case of VACTERL-hydrocephalus association. (12872824)
2003
37
An adriamycin experimental rat model inducing a wide variety of abnormalities similar to VACTERL association in humans is now well established. (11527207)
2001
38
Prenatal diagnosis of VACTERL association. (11696794)
2001
39
Patterns of radial dysmorphology with the VACTERL association in the adriamycin-exposed prenatal rat. (11092363)
2000
40
Upper urinary tract manifestations of the VACTERL association. (10799237)
2000
41
Congenital corneal anesthesia in children with the VACTERL association. (9437320)
1998
42
Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis? (8779315)
1996
43
VACTERL association, epidemiologic definition and delineation. (8826430)
1996
44
Possible form of Fanconi pancytopenia as a phenocopy of the VACTERL association. (8281285)
1993
45
VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism? (1415331)
1992
46
VACTERL-association: an unusual case of fetus detected by ultrasound screening at 19 weeks of gestation. (2226560)
1990
47
Exogenous sex hormone exposure and the risk for VACTERL association. (3775669)
1986
48
An aetiological study of the VACTERL-association. (4076249)
1985
49
A population study of the VACTERL association: evidence for its etiologic heterogeneity. (6835768)
1983
50
Esophageal muscular ring and the VACTERL association: a case report. (7254997)
1981

Genetic Variations for Vacterl Association

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Expression for genes affiliated with Vacterl Association

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Vacterl Association

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Pathways for genes affiliated with Vacterl Association

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37NCBI BioSystems Database, 59Tocris Bioscience
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Pathways related to Vacterl Association according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0GLI1, SHH
29.6GLI1, SHH, IFT172

Compounds for genes affiliated with Vacterl Association

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59Tocris Bioscience, 44Novoseek
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Compounds related to Vacterl Association according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sant-15910.1GLI1, SHH
220(s)-hydroxycholesterol5910.0SHH, GLI1
3cyclopamine44 5911.0GLI1, SHH
4ciliobrevin a599.9SHH, GLI1
5ay 9944 dihydrochloride599.7GLI1, SHH

GO Terms for genes affiliated with Vacterl Association

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16Gene Ontology
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Cellular components related to Vacterl Association according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056346.5PTEN, FOXF1, FOXL1, LPP, PRUNE, SHH

Biological processes related to Vacterl Association according to GeneCards/GeneDecks:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1ventral midline developmentGO:00741810.3GLI1, SHH
2lung lobe morphogenesisGO:06046310.3SHH, FOXF1
3smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:02193810.3SHH, GLI1
4renal system developmentGO:07200110.3SHH, FOXF1
5organ formationGO:04864510.2HOXA3, SHH
6embryonic foregut morphogenesisGO:04861710.2FOXF1, SHH
7lung-associated mesenchyme developmentGO:06048410.2HOXA5, SHH
8epithelial tube branching involved in lung morphogenesisGO:06044110.1HOXA5, FOXF1
9pattern specification processGO:00738910.1FOXF1, FOXL1, SHH
10positive regulation of smoothened signaling pathwayGO:04588010.0SHH, GLI1
11lung developmentGO:03032410.0ZIC3, FOXF1, SHH, GLI1
12heart developmentGO:00750710.0FOXF1, FOXL1, SHH, PTEN
13pancreas developmentGO:03101610.0FOXF1, SHH
14determination of left/right symmetryGO:0073689.9FOXF1, IFT172, ZIC3
15glossopharyngeal nerve morphogenesisGO:0216159.9HOXB3, HOXA3, HOXD3
16dorsal/ventral pattern formationGO:0099539.9IFT172, SHH, GLI1
17spinal cord motor neuron differentiationGO:0215229.9IFT172, SHH
18male genitalia developmentGO:0305399.8SHH, HOXD13
19smoothened signaling pathwayGO:0072249.8IFT172, FOXF1, SHH, GLI1
20cartilage developmentGO:0512169.6HOXB3, HOXC4, HOXA3, HOXD3
21positive regulation of cell proliferationGO:0082849.6PTEN, HOXA3, GLI1, SHH
22embryonic skeletal system morphogenesisGO:0487049.5HOXB5, HOXD3, HOXA3, HOXA5, HOXB3
23thyroid gland developmentGO:0308789.5SHH, HOXD3, HOXA3, HOXA5, HOXB3
24positive regulation of transcription from RNA polymerase II promoterGO:0459449.3ZIC3, FOXF1, SHH, GLI1, HOXD13, HOXA5
25anterior/posterior pattern specificationGO:0099528.6HOXB3, ZIC3, SHH, HOXB5, HOXD13, HOXD3
26transcription, DNA-dependentGO:0063518.5ZIC3, FOXL1, HOXB5, HOXD3, HOXA3, HOXC4

Molecular functions related to Vacterl Association according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:0718379.9HOXC4, HOXA3
2sequence-specific DNA bindingGO:0435658.0TEF, ZIC3, FOXF1, FOXL1, HOXB5, HOXD13
3sequence-specific DNA binding transcription factor activityGO:0037007.7ZIC3, FOXL1, HOXB5, HOXD13, HOXD3, HOXA3

Products for genes affiliated with Vacterl Association

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Sources for Vacterl Association

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet