MCID: VCT001
MIFTS: 47

Vacterl Association malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Vacterl Association

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Aliases & Descriptions for Vacterl Association:

Name: Vacterl Association 11 46 23 24 13 25 12 66
Vater Association 11 46 23 24 25 37 66
 
Vacterl/vater Association 11
Vater Syndrome 11

Classifications:



External Ids:

Disease Ontology11 DOID:14679
ICD1028 Q87.2
SNOMED-CT60 205830006, 27742002
MeSH37 C536534

Summaries for Vacterl Association

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NIH Rare Diseases:46 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. in rare cases, vacterl association has occurred in more than one family member. last updated: 7/6/2015

MalaCards based summary: Vacterl Association, also known as vater association, is related to imperforate anus and vater/vacterl association, and has symptoms including cardiovascular symptoms, cardiovascular symptoms and mass of upper limb. An important gene associated with Vacterl Association is ZIC3 (Zic Family Member 3), and among its related pathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, heart and pancreas, and related mouse phenotypes are craniofacial and embryo.

Disease Ontology:11 "a syndrome that is characterized by the presence of at least three of the following

Genetics Home Reference:24 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:69 The VACTERL association (also VATER association) refers to the non-random co-occurrence of birth defects... more...

Related Diseases for Vacterl Association

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1imperforate anus29.0FOXF1, LPP, SHH
2vater/vacterl association12.4
3vacterl association, x-linked12.3
4vacterl association with hydrocephaly, x-linked12.1
5vater association with macrocephaly and ventriculomegaly11.7
6vacterl hydrocephaly11.2
7tracheal agenesis10.4
8esophagitis10.1
9tsc1-related lymphangioleiomyomatosis10.0HOXD13, SHH
10esophageal atresia10.0
11hydrocephalus9.9
12tempi syndrome9.8HOXD13, SHH, ZIC3
13urethritis9.8
14sirenomelia9.8
15tracheoesophageal fistula9.8
16malignant neoplasm of acoustic nerve9.8FOXF1, SHH
17neural tube defects9.7
18prune belly syndrome9.7
19biotinidase deficiency9.7
20tetralogy of fallot9.7
21baller-gerold syndrome9.7
22hemifacial microsomia9.7
23moyamoya disease9.7
24lipoma9.7
25duodenal atresia9.7
26mayer-rokitansky-kuster-hauser syndrome9.7
27arteriovenous fistula9.7
28sacrococcygeal teratoma9.7
29scoliosis9.7
30polydactyly9.7
31arachnoiditis9.7
32pancytopenia9.7
33duane retraction syndrome9.7
34teratoma9.7
35laryngitis9.7
36congenital diaphragmatic hernia9.7
37urinary tract obstruction9.7
38kidney disease9.7
39duodenitis9.7
40esophageal atresia/tracheoesophageal fistula9.7
41aberrant subclavian artery9.7
42arachnoid cysts9.7
43fibromuscular dysplasia9.7
44heterotaxy9.7
45murcs association9.7
46pulmonary sequestration9.7
47congenital microgastria9.7
48amelia of upper limb9.7
49paroxysmal nocturnal hemoglobinuria9.6PTF1A, SHH
50behcet syndrome8.6EPPK1, FOXF1, HOXD13, PTF1A, ZIC3

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



Diseases related to vacterl association

Symptoms for Vacterl Association

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UMLS symptoms related to Vacterl Association:


cardiovascular symptoms, mass of upper limb, mass of lower limb, musculoskeletal and connective tissue signs and symptoms nec, vascular pain, chest wall necrosis, trendelenburg's symptom, extremity contracture, musculoskeletal stiffness, pseudothrombophlebitis

Drugs & Therapeutics for Vacterl Association

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical and Genetic Studies of VACTERL AssociationCompletedNCT00766571

Search NIH Clinical Center for Vacterl Association


Cochrane evidence based reviews: vater association

Genetic Tests for Vacterl Association

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Genetic tests related to Vacterl Association:

id Genetic test Affiliating Genes
1 Vacterl Association25
2 Vater Association25 23

Anatomical Context for Vacterl Association

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MalaCards organs/tissues related to Vacterl Association:

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

Animal Models for Vacterl Association or affiliated genes

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MGI Mouse Phenotypes related to Vacterl Association:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9PCSK5, PTF1A, SHH, ZIC3
2MP:00053808.4FOXF1, HOXD13, PTF1A, SHH, ZIC3
3MP:00053888.3FOXF1, PCSK5, PTF1A, SHH, ZIC3
4MP:00053908.1HOXD13, PCSK5, PTF1A, SHH, ZIC3
5MP:00053717.8HOXD13, PCSK5, PTF1A, SHH, ZIC3
6MP:00053817.7FOXF1, HOXD13, PCSK5, PTF1A, SHH, ZIC3
7MP:00053797.7HOXD13, PCSK5, PTF1A, SHH, TRAP1
8MP:00107687.2FOXF1, HOXD13, LPP, PCSK5, PTF1A, SHH
9MP:00053847.1EPPK1, LPP, PCSK5, PTF1A, SHH, TRAP1

Publications for Vacterl Association

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Articles related to Vacterl Association:

(show top 50)    (show all 149)
idTitleAuthorsYear
1
Novel FANCI mutations in Fanconi anemia with VACTERL association. (26590883)
2016
2
Moyamoya Disease in a Patient with VACTERL Association. (26844876)
2016
3
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. (26857713)
2016
4
VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. (25988067)
2015
5
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. (26294094)
2015
6
A patient with VACTERL association for caesarean delivery. (26019364)
2015
7
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. (25059024)
2014
8
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association. (24416387)
2014
9
VACTERL association with hydrocephalus in a fetus conceived by inA vitro fertilization and embryo transfer. (24411047)
2013
10
Mitochondrial Factors and VACTERL Association-Related Congenital Malformations. (23653577)
2013
11
VACTERL association with double-chambered left ventricle: A rare occurrence. (24688248)
2013
12
VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia. (24368291)
2013
13
VATER/VACTERL Association: Evidence for the Role of Genetic Factors. (23653572)
2013
14
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. (23653574)
2013
15
Is Duane retraction syndrome part of the VACTERL association? (23658476)
2013
16
Considering the Embryopathogenesis of VACTERL Association. (23653571)
2013
17
Clinical characteristics of neonates with VACTERL association. (22300427)
2012
18
Familial occurrence of the VATER/VACTERL association. (22422375)
2012
19
Urorectal septum malformation sequence in a newborn with VACTERL association. (22313652)
2012
20
De novo microduplication at 22q11.21 in a patient with VACTERL association. (20849991)
2011
21
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association. (21315191)
2011
22
A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH). (22052692)
2011
23
The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population. (21724702)
2011
24
Bias in patient series with VACTERL association. (21739573)
2011
25
Long-term outcomes of adults with features of VACTERL association. (20888933)
2011
26
Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association. (20676578)
2010
27
Sporadic neonatal Fanconi's anemia with VACTERL association. (20158659)
2010
28
VACTERL association in a cat. (20186795)
2010
29
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
30
Twin reversed arterial perfusion (TRAP) sequence in association with VACTERL association: a case report. (21176185)
2010
31
Chronic kidney disease in the VACTERL association: clinical course and outcome. (19172300)
2009
32
Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. (18186125)
2008
33
Monozygotic twins discordant for VACTERL association. (18382992)
2008
34
Congenital pulmonary sling, aorto-pulmonary window and pulmonary vein obstruction as a diagnostic and therapeutic challenge in an infant with VACTERL association. (16598388)
2006
35
Disc drusen and peripapillary subretinal neovascular membrane in a child with the VACTERL association. (16498441)
2006
36
Should chromosome breakage studies be performed in patients with VACTERL association? (16015582)
2005
37
The TACRD association is distinct from VACTERL association--a case report. (15471135)
2004
38
Umbilical cord allantoic cysts in a newborn with vacterl association. (15163871)
2004
39
VACTERL association with Prune-Belly syndrome. (15347875)
2004
40
VACTERL association with a cleft hand. (14684968)
2003
41
Bilateral congenital lacrimal anlage ducts (lacrimal fistula) in a Patient With the VACTERL association. (11897957)
2002
42
Prenatal diagnosis of VACTERL association: a case report. (11281494)
2001
43
The VACTERL association: lessons from the Sonic hedgehog pathway. (11903345)
2001
44
A fetus with VACTERL association, unilateral aplasia of the humerus and partial hemihypoplasia. (10826632)
2000
45
A patient with VACTERL association, amelia and hemifacial microsomia. (10319203)
1999
46
Congenital microgastria in an infant with the VACTERL association. (8331503)
1993
47
Possible form of Fanconi pancytopenia as a phenocopy of the VACTERL association. (8281285)
1993
48
VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. (1481853)
1992
49
A dental and facial anomaly not previously reported with VACTERL association: report of case. (2345216)
1990
50
Tracheal agenesis and associated malformations: a comparison with tracheoesophageal fistula and the VACTERL association. (4003446)
1985

Variations for Vacterl Association

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Expression for genes affiliated with Vacterl Association

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Search GEO for disease gene expression data for Vacterl Association.

Pathways for genes affiliated with Vacterl Association

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Pathways related to Vacterl Association according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.9FOXF1, PTF1A, SHH

GO Terms for genes affiliated with Vacterl Association

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Biological processes related to Vacterl Association according to GeneCards Suite gene sharing:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1embryonic digestive tract morphogenesisGO:004855710.4FOXF1, SHH
2lung lobe morphogenesisGO:006046310.4FOXF1, SHH
3lung morphogenesisGO:006042510.4FOXF1, SHH
4trachea developmentGO:006043810.4FOXF1, SHH
5embryonic foregut morphogenesisGO:004861710.3FOXF1, SHH
6positive regulation of mesenchymal cell proliferationGO:000205310.3FOXF1, SHH
7vasculogenesisGO:000157010.3FOXF1, SHH
8renal system developmentGO:007200110.2FOXF1, SHH
9embryonic digit morphogenesisGO:004273310.2HOXD13, SHH
10heart loopingGO:000194710.2SHH, ZIC3
11epithelial tube branching involved in lung morphogenesisGO:006044110.2FOXF1, SHH
12male genitalia developmentGO:003053910.2HOXD13, SHH
13limb morphogenesisGO:003510810.1HOXD13, PCSK5
14embryonic digestive tract developmentGO:004856610.1FOXF1, PCSK5
15smoothened signaling pathwayGO:000722410.1FOXF1, SHH
16embryonic limb morphogenesisGO:003032610.0HOXD13, SHH
17neuron fate commitmentGO:00486639.9PTF1A, SHH
18respiratory tube developmentGO:00303239.9FOXF1, PCSK5, SHH
19cell fate commitmentGO:00451659.9PTF1A, SHH
20embryo developmentGO:00097909.9PTF1A, SHH
21lung developmentGO:00303249.8FOXF1, SHH, ZIC3
22hindbrain developmentGO:00309029.8PTF1A, SHH
23pattern specification processGO:00073899.8HOXD13, SHH, ZIC3
24embryonic skeletal system developmentGO:00487069.7PCSK5, SHH
25pancreas developmentGO:00310169.4FOXF1, PTF1A, SHH
26anterior/posterior pattern specificationGO:00099529.3HOXD13, PCSK5, SHH, ZIC3
27heart developmentGO:00075079.2FOXF1, PCSK5, SHH
28positive regulation of transcription, DNA-templatedGO:00458938.9FOXF1, PTF1A, SHH, ZIC3
29determination of left/right symmetryGO:00073688.8FOXF1, PCSK5, SHH, ZIC3
30transcription from RNA polymerase II promoterGO:00063668.7FOXF1, HOXD13, PTF1A, ZIC3
31positive regulation of transcription from RNA polymerase II promoterGO:00459448.2FOXF1, HOXD13, PTF1A, SHH, ZIC3

Molecular functions related to Vacterl Association according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.9HOXD13, PTF1A, ZIC3

Sources for Vacterl Association

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet