MCID: VCT001
MIFTS: 61

Vacterl Association malady

Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases categories

Summaries for Vacterl Association

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 lipoma, 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 Development Hedgehog and PTH signaling pathways in bone and cartilage development and Hedgehog Signaling Pathway. Affiliated tissues include kidney, heart and testes, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Disease Ontology:9 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.

Wikipedia:66 The VACTERL association (also VATER syndrome) refers to the non-random co-occurrence of birth defects... more...

Description from OMIM:48 276950,192350

Aliases & Classifications for Vacterl Association

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
vacterl association:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

vacterl association 9 10 44 23 22 48 11 50 63
vater association 9 44 21 23 22 50 63
vacterl/vater association 9 50


External Ids:

Disease Ontology9 DOID:14679
MeSH36 C536534
MESH via Orphanet37 C536495, C536534
SNOMED-CT59 27742002, 205830006
ICD10 via Orphanet27 Q87.2
SNOMED-CT via Orphanet60 27742002
UMLS via Orphanet64 C0220708, C1735591

Related Diseases for Vacterl Association

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18GeneCards, 19GeneDecks
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Diseases related to Vacterl Association via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1esophageal atresia30.5HOXA3, TEF, SHH, MTHFSD
2lipoma30.1LPP, PTEN
3polydactyly30.0HOXD13, SHH, GLI2
4esophagitis10.4
5vacterl association with hydrocephalus10.4
6vacterl association with hydrocephaly, x-linked10.3
7vacterl association, x-linked, with or without hydrocephalus10.3
8urethritis10.2
9fanconi's anemia10.2
10sirenomelia10.2
11tracheoesophageal fistula10.2
12vacterl with hydrocephalus, fancb-related10.2
13vacterl association, x-linked10.2
14imperforate anus10.2
15vater association with macrocephaly and ventriculomegaly10.2
16pallister-hall syndrome10.1SHH
17single median maxillary central incisor10.1SHH
18semilobar holoprosencephaly10.1SHH
19arteriovenous fistula10.0
20scimitar syndrome10.0
21tetralogy of fallot10.0
22biotinidase deficiency10.0
23duodenitis10.0
24duane retraction syndrome10.0
25renal agenesis10.0
26arachnoiditis10.0
27pancytopenia10.0
28congenital diaphragmatic hernia10.0
29hydrocephalus10.0
30kidney disease10.0
31laryngitis10.0
32esophageal atresia/tracheoesophageal fistula10.0
33annular pancreas10.0
34arachnoid cysts10.0
35duodenal atresia10.0
36fibromuscular dysplasia10.0
37heterotaxy10.0
38mayer-rokitansky-kuster-hauser syndrome10.0
39miller-dieker syndrome10.0
40murcs association10.0
41prune belly syndrome10.0
42pulmonary sequestration10.0
43tracheal agenesis10.0
44vacterl hydrocephaly10.0
45congenital microgastria10.0
46amelia of upper limb10.0
47neurofibromatosis10.0
48renovascular hypertension10.0
49coats disease10.0
50somatostatinoma10.0

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



Diseases related to vacterl association

Symptoms for Vacterl Association

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

192350

Clinical features from OMIM:

276950,192350

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Vacterl Association

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21GeneTests, 23GTR
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Genetic tests related to Vacterl Association:

id Genetic test Affiliating Genes
1 Vater Association21 23
2 Vacterl Association23

Anatomical Context for Vacterl Association

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34MalaCards
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MalaCards organs/tissues related to Vacterl Association:

34
Kidney, Heart, Testes, Pancreas, Lung, Uterus, Trachea

Animal Models for Vacterl Association or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Vacterl Association:

38 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3GLI2, HOXA5, SHH, ZIC3
2MP:00053719.2IFT172, ZIC3, HOXD13, SHH, PTEN, GLI2
3MP:00053899.0PTEN, GLI2, LPP, HOXD13, SHH, ZIC3
4MP:00053918.8GLI2, HOXA5, HOXD13, PTEN, IFT172, ZIC3
5MP:00107718.8GLI2, EPPK1, PTEN, SHH, HOXD13
6MP:00053858.5HOXD3, SHH, PTEN, FOXF1, IFT172, ZIC3
7MP:00028738.4EPPK1, HOXB3, HOXA5, SHH, PTEN, ZIC3
8MP:00053698.4HOXA3, HOXD13, SHH, PTEN, HOXC4, GLI2
9MP:00053868.3GLI2, ZIC3, PTEN, SHH, HOXC4, TEF
10MP:00053788.3GLI2, ZIC3, HOXA3, HOXA5, HOXD13, SHH
11MP:00053848.0LPP, IFT172, SHH, GLI2, HOXA5, HOXA3
12MP:00053798.0HOXB3, HOXA5, GLI2, PTEN, HOXD13, SHH
13MP:00053767.9TEF, SHH, HOXA5, PTEN, EPPK1, IFT172
14MP:00053827.7HOXB3, HOXA5, GLI2, ZIC3, IFT172, PTEN
15MP:00053977.6HOXD3, HOXA3, HOXA5, HOXC4, SHH, ZIC3
16MP:00053807.6HOXD3, PTEN, SHH, HOXD13, HOXA3, HOXB3
17MP:00053877.6ZIC3, HOXA3, HOXB3, HOXD3, SHH, PTEN
18MP:00053817.5FOXF1, ZIC3, IFT172, PTEN, SHH, HOXC4
19MP:00053887.5HOXA3, HOXA5, HOXB3, IFT172, ZIC3, GLI2
20MP:00053906.9HOXA5, HOXC4, HOXA3, PTEN, IFT172, ZIC3
21MP:00036316.7HOXD13, HOXA3, HOXB3, HOXD3, SHH, GLI2
22MP:00107685.8SHH, HOXA5, TEF, HOXC4, HOXD13, HOXA3

Publications for Vacterl Association

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53PubMed
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Articles related to Vacterl Association:

(show top 50)    (show all 118)
idTitleAuthorsYear
1
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association. (24416387)
2014
2
VACTERL association with hydrocephalus in a fetus conceived by inA vitro fertilization and embryo transfer. (24411047)
2013
3
Monochorionic twin fetus with VACTERL association after intracytoplasmic sperm injection. (23751045)
2013
4
Mitochondrial Factors and VACTERL Association-Related Congenital Malformations. (23653577)
2013
5
Anesthetic management of a parturient with VACTERL association undergoing Cesarean delivery. (23519725)
2013
6
Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: No evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum. (24307608)
2013
7
VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia. (24368291)
2013
8
VATER/VACTERL Association: Evidence for the Role of Genetic Factors. (23653572)
2013
9
Adriamycin-Induced Models of VACTERL Association. (23653576)
2013
10
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. (23653574)
2013
11
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. (23653573)
2013
12
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. (22639458)
2012
13
A rare association of fibromuscular dysplasia, renal agenesis, renal arteriovenous fistulae, and vertebral anomalies: expanding the V in VACTERL association. (23023878)
2012
14
De novo microduplication at 22q11.21 in a patient with VACTERL association. (20849991)
2011
15
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association. (21315191)
2011
16
A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH). (22052692)
2011
17
The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population. (21724702)
2011
18
Staged male urethroplasty transferring megalourethra tissue as free graft dorsal inlay to proximal urethral atresia in VACTERL association. (21601242)
2011
19
Analysis of component findings in 79 patients diagnosed with VACTERL association. (20683998)
2010
20
Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association. (20676578)
2010
21
Sporadic neonatal Fanconi's anemia with VACTERL association. (20158659)
2010
22
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? (20452998)
2010
23
VACTERL association in a cat. (20186795)
2010
24
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. (19822228)
2010
25
Chronic kidney disease in the VACTERL association: clinical course and outcome. (19172300)
2009
26
Bronchial anomalies in VACTERL association. (18671276)
2008
27
Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. (18186125)
2008
28
Monozygotic twins discordant for VACTERL association. (18382992)
2008
29
VACTERL association and maternal diabetes: a possible causal relationship? (18181216)
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
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. (16299066)
2006
32
The TACRD association is distinct from VACTERL association--a case report. (15471135)
2004
33
Umbilical cord allantoic cysts in a newborn with vacterl association. (15163871)
2004
34
VACTERL association with Prune-Belly syndrome. (15347875)
2004
35
Anesthetic management for a parturient affected by the VACTERL association. (14980963)
2004
36
Unusual manifestations of VACTERL association. (12626834)
2003
37
VACTERL association with a cleft hand. (14684968)
2003
38
Prenatal diagnosis of VACTERL association: a case report. (11281494)
2001
39
Patterns of radial dysmorphology with the VACTERL association in the adriamycin-exposed prenatal rat. (11092363)
2000
40
Tibial aplasia--VACTERL association, a new syndrome? (10955482)
2000
41
A patient with VACTERL association, amelia and hemifacial microsomia. (10319203)
1999
42
VACTERL association, epidemiologic definition and delineation. (8826430)
1996
43
Congenital microgastria in an infant with the VACTERL association. (8331503)
1993
44
VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. (1481853)
1992
45
VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. (2000280)
1991
46
VACTERL-association: an unusual case of fetus detected by ultrasound screening at 19 weeks of gestation. (2226560)
1990
47
A dental and facial anomaly not previously reported with VACTERL association: report of case. (2345216)
1990
48
Exogenous sex hormone exposure and the risk for VACTERL association. (3775669)
1986
49
Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association. (3943255)
1986
50
A population study of the VACTERL association: evidence for its etiologic heterogeneity. (6835768)
1983

Variations for Vacterl Association

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Expression for genes affiliated with Vacterl Association

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2BioGPS, 16Gene 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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51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 62Tocris Bioscience, 31KEGG
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Pathways related to Vacterl Association according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9GLI2, SHH
2
Show member pathways
9.9GLI2, SHH
39.9SHH, GLI2
49.6GLI2, PTEN, SHH
59.6GLI2, IFT172, SHH

Compounds for genes affiliated with Vacterl Association

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GO Terms for genes affiliated with Vacterl Association

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17Gene Ontology
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Cellular components related to Vacterl Association according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056345.7GLI2, HOXB3, HOXA3, HOXA5, HOXD13, HOXC4

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

(show all 41)
idNameGO IDScoreTop Affiliating Genes
1lung lobe morphogenesisGO:06046310.3FOXF1, SHH
2embryonic foregut morphogenesisGO:04861710.3FOXF1, SHH
3renal system developmentGO:07200110.3SHH, FOXF1
4ventral midline developmentGO:00741810.3SHH, GLI2
5male genitalia developmentGO:03053910.3SHH, HOXD13
6hindgut morphogenesisGO:00744210.3SHH, GLI2
7smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:02193810.3GLI2, SHH
8spinal cord dorsal/ventral patterningGO:02151310.2SHH, GLI2
9positive regulation of T cell differentiation in thymusGO:03308910.2GLI2, SHH
10spinal cord motor neuron differentiationGO:02152210.2SHH, IFT172
11embryonic digestive tract morphogenesisGO:04855710.2SHH, FOXF1
12hindbrain developmentGO:03090210.2GLI2, SHH
13pancreas developmentGO:03101610.2FOXF1, SHH
14lung-associated mesenchyme developmentGO:06048410.2HOXA5, SHH
15epithelial tube branching involved in lung morphogenesisGO:06044110.2FOXF1, HOXA5
16osteoblast developmentGO:00207610.2SHH, GLI2
17organ formationGO:04864510.1SHH, HOXA3
18determination of left/right symmetryGO:00736810.1IFT172, FOXF1, ZIC3
19branching morphogenesis of an epithelial tubeGO:04875410.1SHH, GLI2
20embryonic digit morphogenesisGO:04273310.1HOXD13, GLI2, SHH
21cellular response to organic cyclic compoundGO:07140710.0FOXF1, GLI2
22pattern specification processGO:00738910.0GLI2, FOXF1, SHH
23lung alveolus developmentGO:04828610.0HOXA5, FOXF1
24dorsal/ventral pattern formationGO:00995310.0SHH, IFT172
25odontogenesis of dentin-containing toothGO:0424759.9GLI2, SHH
26heart loopingGO:0019479.9ZIC3, SHH
27lung developmentGO:0303249.8GLI2, SHH, ZIC3, FOXF1
28heart developmentGO:0075079.8GLI2, FOXF1, PTEN, SHH
29smoothened signaling pathwayGO:0072249.8GLI2, SHH, FOXF1, IFT172
30thymus developmentGO:0485389.8HOXA3, SHH
31positive regulation of transcription, DNA-templatedGO:0458939.7SHH, GLI2, ZIC3, FOXF1
32vasculogenesisGO:0015709.7FOXF1, SHH
33glossopharyngeal nerve morphogenesisGO:0216159.5HOXD3, HOXB3, HOXA3
34cartilage developmentGO:0512169.5HOXD3, HOXB3, HOXA3
35angiogenesisGO:0015259.4PTEN, HOXA3, HOXB3
36negative regulation of transcription from RNA polymerase II promoterGO:0001229.3FOXF1, GLI2, SHH, HOXB3
37embryonic skeletal system morphogenesisGO:0487049.1HOXA5, HOXA3, HOXB3, HOXD3
38thyroid gland developmentGO:0308788.9HOXD3, HOXB3, HOXA3, HOXA5, SHH
39positive regulation of transcription from RNA polymerase II promoterGO:0459448.7HOXA5, HOXD13, TEF, FOXF1, GLI2, ZIC3
40anterior/posterior pattern specificationGO:0099528.4ZIC3, HOXD3, HOXB3, HOXA3, HOXA5, HOXD13
41transcription, DNA-templatedGO:0063517.4HOXA3, HOXB3, HOXC4, TEF, HOXD3, HOXA5

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037006.8HOXD3, HOXB3, HOXA3, HOXA5, HOXD13, HOXC4
2sequence-specific DNA bindingGO:0435656.8HOXD3, HOXA3, HOXA5, HOXD13, HOXC4, TEF

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
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41NCIt
42NDF-RT
45NINDS
46Novoseek
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49OMIM via Orphanet
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60SNOMED-CT via Orphanet
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