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, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 20GeneTests, 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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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
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association. (24416387)
2014
2
Mitochondrial Factors and VACTERL Association-Related Congenital Malformations. (23653577)
2013
3
Anesthetic management of a parturient with VACTERL association undergoing Cesarean delivery. (23519725)
2013
4
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
5
VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia. (24368291)
2013
6
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. (23653574)
2013
7
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. (23653573)
2013
8
Sonic Hedgehog Signaling and VACTERL Association. (23653575)
2013
9
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. (23549274)
2013
10
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. (23526679)
2013
11
Distinctive vertebral abnormalities in a patient with VACTERL association. (22033847)
2012
12
Inheritance of the VATER/VACTERL association. (22581124)
2012
13
Aberrant abdominal umbilical arteries in VACTERL--association: a first case report. (23193752)
2012
14
Surgical correction of tracheo-oesophageal fistula and oesophageal atresia in infants with VACTERL association: a retrospective case-control study. (22991204)
2012
15
Urorectal septum malformation sequence in a newborn with VACTERL association. (22313652)
2012
16
Prune Belly Syndrome Associated with Full Spectrum of VACTERL in a New Born. (24027688)
2012
17
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association. (21315191)
2011
18
A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH). (22052692)
2011
19
The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population. (21724702)
2011
20
Bias in patient series with VACTERL association. (21739573)
2011
21
Long-term outcomes of adults with features of VACTERL association. (20888933)
2011
22
VACTERL association and mitochondrial dysfunction. (21308977)
2011
23
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
24
Twin reversed arterial perfusion (TRAP) sequence in association with VACTERL association: a case report. (21176185)
2010
25
Evidence for inheritance in patients with VACTERL association. (20369369)
2010
26
Fanconi's anemia, type A presenting as VACTERL association with atresia right external auditory canal. (20038942)
2010
27
Chronic kidney disease in the VACTERL association: clinical course and outcome. (19172300)
2009
28
Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: a previously unreported association. (19536863)
2009
29
Monozygotic twins discordant for VACTERL association. (18382992)
2008
30
A new case of VACTERL association with congenital arachnoid cyst. (18541975)
2008
31
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. (16299066)
2006
32
Identical twins concordant for pulmonary sequestration communicating with the esophagus and discordant for the VACTERL association. (15937657)
2005
33
The TACRD association is distinct from VACTERL association--a case report. (15471135)
2004
34
Unusual manifestations of VACTERL association. (12626834)
2003
35
Prenatal diagnosis of VACTERL association: a case report. (11281494)
2001
36
The VACTERL association: lessons from the Sonic hedgehog pathway. (11903345)
2001
37
Tibial aplasia--VACTERL association, a new syndrome? (10955482)
2000
38
A patient with VACTERL association, amelia and hemifacial microsomia. (10319203)
1999
39
Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies. (10325745)
1999
40
Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association. (9572377)
1998
41
Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies. (9623406)
1998
42
Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association. (9382149)
1997
43
VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. (1481853)
1992
44
Morbidity and mortality in 46 patients with the VACTERL association. (1597357)
1992
45
VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. (2000280)
1991
46
A dental and facial anomaly not previously reported with VACTERL association: report of case. (2345216)
1990
47
Transposition of the external genitalia associated with the VACTERL association. (3582416)
1987
48
Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association. (3943255)
1986
49
Tracheal agenesis and associated malformations: a comparison with tracheoesophageal fistula and the VACTERL association. (4003446)
1985
50
VACTERL-association. (6435405)
1984

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