MCID: VCT001
MIFTS: 51

Vacterl Association malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Vacterl Association

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Sources:
10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 36MeSH, 27ICD10, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all MalaCards sources

Aliases & Descriptions for Vacterl Association:

Name: Vacterl Association 10 11 45 22 23 12 51 67 24 65
Vater Association 10 45 22 23 51 36 65 24
Vacterl/vater Association 10 51
 
Vater Syndrome 10
Vacterl 67

Characteristics:

Orphanet epidemiological data:

51
vacterl association:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:14679
ICD1027 Q87.2
MeSH36 C536534
Orphanet51 887
SNOMED-CT59 205830006, 27742002
ICD10 via Orphanet28 Q87.2
MESH via Orphanet37 C536495, C536534
UMLS via Orphanet66 C0220708, C1735591
UMLS65 C0220708, C1735591

Summaries for Vacterl Association

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NIH Rare Diseases:45 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 vacterl association, x-linked and vacterl association with hydrocephaly, x-linked, and has symptoms including tracheo-esophageal fistula/esophageal atresia/stenosis, imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula and tracheal atresia/stenosis. An important gene associated with Vacterl Association is HOXD13 (Homeobox D13), and among its related pathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, heart and testes, and related mouse phenotypes are embryo and limbs/digits/tail.

Disease Ontology:10 "A syndrome that is characterized by the presence of at least three of the following

UniProtKB/Swiss-Prot:67 VACTERL association: VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.

Genetics Home Reference:23 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:68 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 139)
idRelated DiseaseScoreTop Affiliating Genes
1vacterl association, x-linked12.7
2vacterl association with hydrocephaly, x-linked12.5
3vater association with macrocephaly and ventriculomegaly12.1
4vacterl hydrocephaly11.6
5vacterl with hydrocephalus, fancb-related11.4
6tracheal agenesis10.3
7breast cancer10.2
8neuropathy10.2
9colorectal cancer10.1
10obesity10.1
11artery disease10.1
12sarcoma10.1
13esophagitis10.1
14prostatitis10.1
15gliosarcoma10.1
16teratoma10.1
17middle lobe syndrome10.1FOXF1, SHH
18rheumatoid arthritis10.0
19pycnodysostosis10.0
20hiv-110.0
21prostate cancer10.0
22coronary artery disease10.0
23esophageal cancer10.0
24renal cell carcinoma10.0
25anorexia nervosa10.0
26keratitis10.0
27multiple myeloma10.0
28nonarteritic anterior ischemic optic neuropathy10.0
29dermatofibrosarcoma protuberans10.0
30moyamoya disease10.0
31lipoma10.0
32total anomalous pulmonary venous return10.0
33anencephaly10.0
34arteriovenous fistula10.0
35arthritis10.0
36behcet's disease10.0
37chronic inflammatory demyelinating polyneuropathy10.0
38gastric cancer10.0
39glomerulonephritis10.0
40ischemic optic neuropathy10.0
41leukemia10.0
42multifocal motor neuropathy10.0
43paroxysmal nocturnal hemoglobinuria10.0
44ulcerative colitis10.0
45adenoiditis10.0
46pulmonary aspergilloma10.0
47asperger syndrome10.0
48congenital generalized lipodystrophy10.0
49secondary progressive multiple sclerosis10.0
50peripheral artery disease10.0

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



Diseases related to vacterl association

Symptoms for Vacterl Association

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Symptoms:

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

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 Vater Association22

Anatomical Context for Vacterl Association

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MalaCards organs/tissues related to Vacterl Association:

33
Kidney, Heart, Testes, Lung, Uterus, Pancreas, Breast

Animal Models for Vacterl Association or affiliated genes

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MGI Mouse Phenotypes related to Vacterl Association:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.9FOXF1, HOXD13, PTF1A, SHH, ZIC3
2MP:00053718.7HOXD13, PCSK5, PTF1A, SHH, ZIC3
3MP:00053828.7PCSK5, PTF1A, SHH, ZIC3
4MP:00053888.6FOXF1, PCSK5, PTF1A, SHH, ZIC3
5MP:00053908.5HOXD13, PCSK5, PTF1A, SHH, ZIC3
6MP:00053798.3HOXD13, PCSK5, PTF1A, SHH, TRAP1
7MP:00053818.2FOXF1, HOXD13, PCSK5, PTF1A, SHH, ZIC3
8MP:00107687.1FOXF1, HOXD13, LPP, PCSK5, PTF1A, SHH
9MP:00053846.9EPPK1, LPP, PCSK5, PTF1A, SHH, TRAP1

Publications for Vacterl Association

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Articles related to Vacterl Association:

(show top 50)    (show all 141)
idTitleAuthorsYear
1
Association between C-reactive protein, corrected QT interval and presence of QT prolongation in hypertensive patients. (24835352)
2014
2
Do Students Eventually Get to Publish their Research Findings? The Case of Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome Research in Cameroon. (24971222)
2014
3
Emerging drugs for acute lymphocytic leukemia. (24354521)
2013
4
Intravitreal bevacizumab for choroidal neovascularization secondary to laser photocoagulation for central serous chorioretinopathy. (21928270)
2012
5
Association between plasma asymmetrical dimethylarginine activity and severity of aortic valve stenosis. (20625307)
2011
6
Primary cardiac synovial sarcoma demonstrated by 3D transesophageal echocardiogram. (21421585)
2011
7
Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and DAcjAcrine-Sottas syndrome. (20385006)
2010
8
Year two assessment of fenofibric acid and moderate-dose statin combination: a phase 3, open-label, extension study. (19995098)
2010
9
Oral microencapsulated live Saccharomyces cerevisiae cells for use in renal failure uremia: preparation and in vivo analysis. (20798777)
2010
10
Response to rituximab and timeframe to relapse in rheumatoid arthritis patients: association with B-cell markers. (20121289)
2010
11
Surgical treatment of giant coronary artery aneurysm secondary to Kawasaki disease. (19683998)
2009
12
Dermoscopy of superficial spreading melanoma. (19218911)
2009
13
1-(2-((Z)-6-(2-(Trifluoromethyl)phenyl)hexa-3-en-1,5-diynyl)phenyl)piperidin-2-one as a new potent apoptosis agent. (19818634)
2009
14
Positive maternal anti-SSA/SSB antibody-related fetal right ventricular endocardial fibroelastosis without atrioventricular block, reversal of endocardial fibroelastosis. (19090488)
2009
15
Regulation of prostate-specific antigen expression by the junctional adhesion molecule A. (18602143)
2009
16
Successful management of intussusception with total polyp clearance in Peutz-Jeghers syndrome using a combined endoscopic and surgical approach. (21686715)
2009
17
Suppression of NF-kappaB and IRF-1-induced transcription of the murine IL-12 p40 by transforming growth factor-beta Smad pathway in macrophages. (17924060)
2008
18
Treatment with pegylated interferon and ribavirin in a patient with fibrosing cholestatic hepatitis due to recurrent hepatitis C after liver transplantation]. (19119247)
2008
19
The use of melatonin to combat mustard toxicity. REVIEW. (18987575)
2008
20
In vitro evaluation of human cytochrome P450 and P-glycoprotein-mediated metabolism of some phytochemicals in extracts and formulations of African potato. (17336049)
2007
21
Progressive up-regulation of genes encoding DNA methyltransferases in the colorectal adenoma-carcinoma sequence. (17538945)
2007
22
Does insertion and use of an intrauterine device increase the risk of pelvic inflammatory disease among women with sexually transmitted infection? A systematic review. (16413845)
2006
23
Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report. (16969006)
2006
24
Ultrasonography in tarsal tunnel syndrome. (16040816)
2005
25
Altered regulation of EGF receptor signaling following a partial hepatectomy. (15389569)
2005
26
Genetic evidence for involvement of two distinct nonhomologous end-joining pathways in repair of topoisomerase II-mediated DNA damage. (15147950)
2004
27
Magnetic resonance imaging-based volumetry differentiates progressive supranuclear palsy from corticobasal degeneration. (14980574)
2004
28
Intraductal papillary carcinoma of bilateral breasts: a case report. (14585566)
2003
29
Vacuolar H+-ATPase inhibitor induces apoptosis via lysosomal dysfunction in the human gastric cancer cell line MKN-1. (14561721)
2003
30
Expression of TRAIL and TRAIL death receptors in stage III non-small cell lung cancer tumors. (12960128)
2003
31
Human melanomas of fibroblast and epithelial morphology differ widely in their ability to synthesize retinyl esters. (12419830)
2002
32
Paradoxical activation of major platelet receptors in the methadone-maintained patients after single pill of aspirin. (11728532)
2001
33
Human neuron-committed teratocarcinoma NT2 cell line has abnormal ND10 structures and is poorly infected by herpes simplex virus type 1. (11264371)
2001
34
Cytochrome P-450 2B6 is responsible for interindividual variability of propofol hydroxylation by human liver microsomes. (11135730)
2001
35
Influenza A infection is an important cause of febrile seizures. (11581471)
2001
36
Role of intestinal P-glycoprotein in the plasma and fecal disposition of docetaxel in humans. (10914699)
2000
37
Connective tissue activating peptide III expression disappears progressively with increased dysplasia in human cervical epithelium. (11006025)
2000
38
'Pseudohypouricosuria' in alcaptonuria: homogentisic acid interference in the measurement of urinary uric acid with the uricase-peroxidase reaction. (10456213)
1999
39
Phosphorylation protects sperm-specific histones H1 and H2B from proteolysis after fertilization. (10618634)
1999
40
The response of smooth muscle cells to alpha-thrombin depends on its arterial origin: comparison among different species. (9615911)
1998
41
Prognostic significance of p53 protein overexpression in transitional cell carcinoma of the renal pelvis and ureter. (9644783)
1998
42
Sturge Weber syndrome with intraoral manifestations. A case report. (10530201)
1998
43
The prevalence of severe growth hormone deficiency in adults who received growth hormone replacement in childhood [see comment]. (8729528)
1996
44
Significance of conventional and new prognostic factors for locally confined renal cell carcinoma. (8625106)
1995
45
Treatment of intestinal microsporidiosis with albendazole in patients with AIDS. (1567576)
1992
46
Paracrine regulation of adipose differentiation by arachidonate metabolites: prostaglandin F2 alpha inhibits early and late markers of differentiation in the adipogenic cell line 1246. (1446597)
1992
47
Adult metachromatic leukodystrophy and pes cavus foot deformity. (1891003)
1991
48
Regression of intracardiac thrombus after embolic stroke. (2237946)
1990
49
WaldenstrAPm's macroglobulinemia and mononeuritis multiplex. (415654)
1978
50
Glomerulonephritis in late-onset cystinosis. Report of two cases and review of the literature. (1009700)
1976

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
19.2FOXF1, 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 20)
idNameGO IDScoreTop Affiliating Genes
1embryonic digit morphogenesisGO:004273310.3HOXD13, SHH
2lung lobe morphogenesisGO:006046310.3FOXF1, SHH
3trachea developmentGO:006043810.3FOXF1, SHH
4embryonic digestive tract morphogenesisGO:004855710.2FOXF1, SHH
5neuron fate commitmentGO:004866310.2PTF1A, SHH
6respiratory tube developmentGO:003032310.1PCSK5, SHH
7embryonic skeletal system developmentGO:004870610.1PCSK5, SHH
8pattern specification processGO:000738910.1SHH, ZIC3
9smoothened signaling pathwayGO:000722410.1FOXF1, SHH
10cell fate commitmentGO:004516510.0PTF1A, SHH
11vasculogenesisGO:000157010.0FOXF1, SHH
12anterior/posterior pattern specificationGO:00099529.9HOXD13, SHH, ZIC3
13kidney developmentGO:00018229.9PCSK5, SHH
14cell differentiationGO:00301549.7FOXF1, PTF1A, ZIC3
15lung developmentGO:00303249.6FOXF1, SHH
16heart developmentGO:00075079.5FOXF1, PCSK5, SHH
17transcription from RNA polymerase II promoterGO:00063669.3FOXF1, HOXD13, PTF1A
18positive regulation of transcription, DNA-templatedGO:00458939.2FOXF1, PTF1A, SHH, ZIC3
19determination of left/right symmetryGO:00073689.2FOXF1, PCSK5, SHH, ZIC3
20positive regulation of transcription from RNA polymerase II promoterGO:00459448.6FOXF1, HOXD13, PTF1A, SHH, ZIC3

Sources for Vacterl Association

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet