MCID: VCT001
MIFTS: 59

Vacterl Association malady

Nephrological, Fetal categories

Summaries for Vacterl Association

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 low set ears/posteriorly rotated ears, syndactyly of fingers/interdigital palm and laryngomalacia. 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, lung and heart, 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:64 The VACTERL association (also VATER syndrome) refers to the non-random co-occurrence of birth defects... more...

Description from OMIM:47 192350,276950

Aliases & Classifications for Vacterl Association

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 20GeneTests, 35MeSH, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
vacterl association:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

vacterl association 8 9 43 22 21 47 10 49 61
vater association 8 43 20 22 21 49 61
vacterl/vater association 8 49


External Ids:

Disease Ontology8 DOID:14679
MeSH35 C536534
MESH via Orphanet36 C536495, C536534
SNOMED-CT57 205830006, 27742002
ICD10 via Orphanet26 Q87.2
SNOMED-CT via Orphanet58 27742002
UMLS via Orphanet62 C0220708, C1735591

Related Diseases for Vacterl Association

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Vacterl Association family:

vacterl association with hydrocephaly, x-linked vacterl association with hydrocephalus

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1esophageal atresia30.4MTHFSD, SHH, HOXA3, TEF
2imperforate anus30.2TEF
3congenital diaphragmatic hernia30.0TEF
4polydactyly30.0HOXD13, GLI1, SHH
5vacterl association with hydrocephaly, x-linked10.3
6vacterl association with hydrocephalus10.3
7vacterl association, x-linked, with or without hydrocephalus10.2
8fanconi's anemia10.2
9tracheoesophageal fistula10.2
10sirenomelia10.2
11murcs association10.2
12vacterl with hydrocephalus, fancb-related10.2
13vacterl association, x-linked10.2
14vater association with macrocephaly and ventriculomegaly10.1
15renal agenesis10.0
16pancytopenia10.0
17biotin deficiency10.0
18fanconi syndrome10.0
19baller-gerold syndrome10.0
20scimitar syndrome10.0
21biotinidase deficiency10.0
22duane retraction syndrome10.0
23esophageal atresia/tracheoesophageal fistula10.0
24prune belly syndrome10.0
25annular pancreas10.0
26mayer-rokitansky-kuster-hauser syndrome10.0
27kuster syndrome10.0
28tracheal agenesis10.0
29duodenal atresia10.0
30fibromuscular dysplasia10.0
31heterotaxy10.0
32miller-dieker syndrome10.0
33pulmonary sequestration10.0
34vacterl hydrocephaly10.0
35congenital microgastria10.0
36renal dysplasia10.0
37neurofibromatosis10.0
38renovascular hypertension10.0
39somatostatinoma10.0
40coats disease10.0
41adenoma10.0
42caudal duplication10.0
43congenital torticollis10.0
44diphallia10.0
45spondylarthropathy10.0
46fanconi anemia, complementation group a10.0
47anal fistula10.0
48pelvis syndrome10.0
49macrocephaly/autism syndrome10.0PTEN
50bannayan-riley-ruvalcaba syndrome10.0PTEN

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



Diseases related to vacterl association

Clinical Features for Vacterl Association

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

192350,276950

Clinical synopsis from OMIM:

192350

Symptoms:

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

Drugs & Therapeutics for Vacterl Association

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Vacterl Association

Drug clinical trials:

Search ClinicalTrials for Vacterl Association

Search NIH Clinical Center for Vacterl Association

Search CenterWatch for Vacterl Association

Genetic Tests for Vacterl Association

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Vacterl Association:

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

Anatomical Context for Vacterl Association

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Vacterl Association:

33
Kidney, Lung, Heart, Pancreas, Trachea

Animal Models for Vacterl Association or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Vacterl Association:

37 (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

Sources:
51PubMed
See all sources

Articles related to Vacterl Association:

(show top 50)    (show all 130)
idTitleAuthorsYear
1
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association. (24416387)
2014
2
Monochorionic twin fetus with VACTERL association after intracytoplasmic sperm injection. (23751045)
2013
3
Mitochondrial Factors and VACTERL Association-Related Congenital Malformations. (23653577)
2013
4
Anesthetic management of a parturient with VACTERL association undergoing Cesarean delivery. (23519725)
2013
5
Adriamycin-Induced Models of VACTERL Association. (23653576)
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
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. (24152966)
2013
9
Sonic Hedgehog Signaling and VACTERL Association. (23653575)
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
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. (23549274)
2013
12
Analysis of cardiac anomalies in VACTERL association. (24343877)
2013
13
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. (23526679)
2013
14
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. (22639458)
2012
15
Clinical characteristics of neonates with VACTERL association. (22300427)
2012
16
Aberrant abdominal umbilical arteries in VACTERL--association: a first case report. (23193752)
2012
17
Surgical correction of tracheo-oesophageal fistula and oesophageal atresia in infants with VACTERL association: a retrospective case-control study. (22991204)
2012
18
Functional independence of Taiwanese children with VACTERL association. (23165933)
2012
19
De novo microduplication at 22q11.21 in a patient with VACTERL association. (20849991)
2011
20
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association. (21315191)
2011
21
Staged male urethroplasty transferring megalourethra tissue as free graft dorsal inlay to proximal urethral atresia in VACTERL association. (21601242)
2011
22
VACTERL association and mitochondrial dysfunction. (21308977)
2011
23
Analysis of component findings in 79 patients diagnosed with VACTERL association. (20683998)
2010
24
Sporadic neonatal Fanconi's anemia with VACTERL association. (20158659)
2010
25
Twin reversed arterial perfusion (TRAP) sequence in association with VACTERL association: a case report. (21176185)
2010
26
Evidence for inheritance in patients with VACTERL association. (20369369)
2010
27
Fanconi's anemia, type A presenting as VACTERL association with atresia right external auditory canal. (20038942)
2010
28
Chronic kidney disease in the VACTERL association: clinical course and outcome. (19172300)
2009
29
Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. (18186125)
2008
30
Monozygotic twins discordant for VACTERL association. (18382992)
2008
31
A new case of VACTERL association with congenital arachnoid cyst. (18541975)
2008
32
Dichorionic twin fetuses with VACTERL association. (17688633)
2007
33
Congenital pulmonary sling, aorto-pulmonary window and pulmonary vein obstruction as a diagnostic and therapeutic challenge in an infant with VACTERL association. (16598388)
2006
34
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. (16299066)
2006
35
Umbilical cord allantoic cysts in a newborn with vacterl association. (15163871)
2004
36
Anesthetic management for a parturient affected by the VACTERL association. (14980963)
2004
37
Unusual manifestations of VACTERL association. (12626834)
2003
38
Notochord anomalies in the adriamycin rat model: A morphologic and molecular basis for the VACTERL association. (12632369)
2003
39
Tibial aplasia--VACTERL association, a new syndrome? (10955482)
2000
40
Upper urinary tract manifestations of the VACTERL association. (10799237)
2000
41
A patient with VACTERL association, amelia and hemifacial microsomia. (10319203)
1999
42
Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies. (10325745)
1999
43
Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association. (9572377)
1998
44
Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies. (9623406)
1998
45
Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association. (9382149)
1997
46
VACTERL association, epidemiologic definition and delineation. (8826430)
1996
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

Expression for genes affiliated with Vacterl Association

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Vacterl Association

Search GEO for disease gene expression data for Vacterl Association.

Pathways for genes affiliated with Vacterl Association

Sources:
38NCBI BioSystems Database, 60Tocris Bioscience
See all sources

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

Sources:
60Tocris Bioscience, 45Novoseek
See all sources

Compounds related to Vacterl Association according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sant-16010.1GLI1, SHH
220(s)-hydroxycholesterol6010.0SHH, GLI1
3cyclopamine45 6011.0GLI1, SHH
4ciliobrevin a609.9SHH, GLI1
5ay 9944 dihydrochloride609.7GLI1, SHH

GO Terms for genes affiliated with Vacterl Association

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vacterl Association

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet