MCID: VCT001
MIFTS: 40

Vacterl Association

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Vacterl Association

Summaries for Vacterl Association

NIH Rare Diseases : 50 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. treatment depend on the symptoms, and may include surgery to repair the birth defects, followed by long-term managment. last updated: 1/26/2017

MalaCards based summary : Vacterl Association, also known as vater association, is related to imperforate anus and vater/vacterl association. An important gene associated with Vacterl Association is ZIC3 (Zic Family Member 3), and among its related pathways/superpathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, heart and pancreas, and related phenotypes are cellular and digestive/alimentary

Disease Ontology : 12 A syndrome that is characterized by the presence of at least three of the following

Genetics Home Reference : 25 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 : 72 The VACTERL association (also VATER association) refers to a recognized group of birth defects which... more...

Related Diseases for Vacterl Association

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

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 imperforate anus 28.9 FOXF1 LPP SHH
2 vater/vacterl association 12.4
3 vacterl association, x-linked 12.2
4 vacterl association with hydrocephaly, x-linked 12.0
5 vater association with macrocephaly and ventriculomegaly 11.6
6 esophageal atresia 11.1
7 tracheal agenesis 11.1
8 vacterl hydrocephaly 10.9
9 fanconi anemia, complementation group a 10.8
10 tsen34-related pontocerebellar hypoplasia 10.1 HOXD13 SHH
11 cranial nerve malignant neoplasm 10.0 FOXF1 SHH
12 esophagitis 9.9
13 hydrocephalus 9.8
14 sirenomelia 9.7
15 tracheoesophageal fistula 9.7
16 urethritis 9.7
17 paroxysmal nocturnal hemoglobinuria 9.6 PTF1A SHH
18 small cell neuroendocrine carcinoma 9.6
19 baller-gerold syndrome 9.6
20 heterotaxy 9.6
21 polydactyly 9.6
22 murcs association 9.6
23 hemifacial microsomia 9.6
24 pulmonary sequestration 9.6
25 arachnoiditis 9.6
26 pancytopenia 9.6
27 moyamoya disease 9.6
28 duane retraction syndrome 9.6
29 duodenal atresia 9.6
30 teratoma 9.6
31 mayer-rokitansky-kuster-hauser syndrome 9.6
32 laryngitis 9.6
33 congenital microgastria 9.6
34 arteriovenous fistula 9.6
35 congenital diaphragmatic hernia 9.6
36 amelia of upper limb 9.6
37 urinary tract obstruction 9.6
38 renal dysplasia 9.6
39 sacrococcygeal teratoma 9.6
40 kidney disease 9.6
41 neural tube defects 9.6
42 duodenitis 9.6
43 prune belly syndrome 9.6
44 scoliosis 9.6
45 aberrant subclavian artery 9.6
46 biotinidase deficiency 9.6
47 esophageal atresia/tracheoesophageal fistula 9.6
48 arachnoid cysts 9.6
49 tetralogy of fallot 9.6
50 fibromuscular dysplasia 9.6

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



Diseases related to Vacterl Association

Symptoms & Phenotypes for Vacterl Association

MGI Mouse Phenotypes related to Vacterl Association:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 EPPK1 LPP PCSK5 PTF1A SHH TRAP1
2 digestive/alimentary MP:0005381 9.8 FOXF1 HOXD13 PCSK5 PTF1A SHH ZIC3
3 embryo MP:0005380 9.65 FOXF1 HOXD13 PTF1A SHH ZIC3
4 limbs/digits/tail MP:0005371 9.55 HOXD13 PCSK5 PTF1A SHH ZIC3
5 mortality/aging MP:0010768 9.5 ZIC3 FOXF1 HOXD13 LPP PCSK5 PTF1A
6 respiratory system MP:0005388 9.02 FOXF1 PCSK5 PTF1A SHH ZIC3

Drugs & Therapeutics for Vacterl Association

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Clinical and Genetic Studies of VACTERL Association Completed NCT00766571

Search NIH Clinical Center for Vacterl Association

Cochrane evidence based reviews: vater association

Genetic Tests for Vacterl Association

Genetic tests related to Vacterl Association:

id Genetic test Affiliating Genes
1 Vacterl Association 29
2 Vater Association 29 24

Anatomical Context for Vacterl Association

MalaCards organs/tissues related to Vacterl Association:

39
Kidney, Heart, Pancreas, Trachea, Lung, Testes

Publications for Vacterl Association

Articles related to Vacterl Association:

(show top 50) (show all 153)
id Title Authors Year
1
Ectopic Scrotum with VACTERL Association. ( 28770133 )
2017
2
Bilateral cochlear nerve absence in a 3 year old child with VACTERL association. ( 28109502 )
2017
3
Severe unicuspid aortic valve stenosis: VACTERL association. ( 28942414 )
2017
4
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. ( 28403078 )
2017
5
VACTERL Association with Sacrococcygeal Teratoma. ( 27567656 )
2016
6
Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association. ( 27061706 )
2016
7
Moyamoya Disease in a Patient with VACTERL Association. ( 26844876 )
2016
8
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. ( 26881326 )
2016
9
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. ( 26857713 )
2016
10
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. ( 27084730 )
2016
11
Novel FANCI mutations in Fanconi anemia with VACTERL association. ( 26590883 )
2016
12
Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus. ( 26929876 )
2016
13
Prenatal diagnosis of the VACTERL association using routine ultrasound examination. ( 26033534 )
2015
14
PCSK5 mutation in a patient with the VACTERL association. ( 26055999 )
2015
15
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2015
16
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. ( 25754594 )
2015
17
A patient with VACTERL association for caesarean delivery. ( 26019364 )
2015
18
VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. ( 25988067 )
2015
19
Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse. ( 25775927 )
2015
20
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. ( 26294094 )
2015
21
UHL'S ANOMALY AS A PART OF VACTERL ASSOCIATION. ( 26349203 )
2015
22
Kidney transplantation in an adult patient with VACTERL association. ( 26106170 )
2015
23
VACTERL association in anorectal malformation: effect on the outcome. ( 26143411 )
2015
24
The VACTERL Association as a disturbance of cell fate determination. ( 26174174 )
2015
25
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association. ( 24416387 )
2014
26
Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene. ( 24668915 )
2014
27
An aberrant subclavian artery exhibiting the partial steal phenomenon in a patient with VACTERL association. ( 25130125 )
2014
28
Scimitar syndrome in a case with VACTERL association. ( 24905790 )
2014
29
Analysis of renal anomalies in VACTERL association. ( 25196458 )
2014
30
Recessive mutations in CAKUT and VACTERL association. ( 24875543 )
2014
31
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. ( 25059024 )
2014
32
A case of VACTERL and non-VACTERL association without the "V and L". ( 24591785 )
2014
33
Clinical, Cytogenetic, Environmental and Inheritance Findings in Mexican Neonates with VACTERL Association. ( 25008186 )
2014
34
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. ( 23653573 )
2013
35
Monochorionic twin fetus with VACTERL association after intracytoplasmic sperm injection. ( 23751045 )
2013
36
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. ( 23549274 )
2013
37
Analysis of cardiac anomalies in VACTERL association. ( 24343877 )
2013
38
Anesthetic management of a parturient with VACTERL association undergoing Cesarean delivery. ( 23519725 )
2013
39
VACTERL association with hydrocephalus in a fetus conceived by inA vitro fertilization and embryo transfer. ( 24411047 )
2013
40
Adriamycin-Induced Models of VACTERL Association. ( 23653576 )
2013
41
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. ( 24152966 )
2013
42
Sonic Hedgehog Signaling and VACTERL Association. ( 23653575 )
2013
43
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
44
VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia. ( 24368291 )
2013
45
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. ( 23653574 )
2013
46
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
47
VACTERL association with double-chambered left ventricle: A rare occurrence. ( 24688248 )
2013
48
Considering the Embryopathogenesis of VACTERL Association. ( 23653571 )
2013
49
Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation. ( 23933666 )
2013
50
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. ( 23526679 )
2013

Variations for Vacterl Association

Expression for Vacterl Association

Search GEO for disease gene expression data for Vacterl Association.

Pathways for Vacterl Association

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

id Super pathways Score Top Affiliating Genes
1 10.93 FOXF1 PTF1A SHH

GO Terms for Vacterl Association

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

(show all 33)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.93 FOXF1 HOXD13 PTF1A SHH ZIC3
2 positive regulation of transcription, DNA-templated GO:0045893 9.91 FOXF1 PTF1A SHH ZIC3
3 transcription from RNA polymerase II promoter GO:0006366 9.9 FOXF1 HOXD13 PTF1A ZIC3
4 heart development GO:0007507 9.8 FOXF1 PCSK5 SHH
5 smoothened signaling pathway GO:0007224 9.66 FOXF1 SHH
6 heart looping GO:0001947 9.65 SHH ZIC3
7 embryonic digit morphogenesis GO:0042733 9.65 HOXD13 SHH
8 vasculogenesis GO:0001570 9.65 FOXF1 SHH
9 cell fate commitment GO:0045165 9.64 PTF1A SHH
10 embryonic limb morphogenesis GO:0030326 9.64 HOXD13 SHH
11 embryonic skeletal system development GO:0048706 9.63 PCSK5 SHH
12 embryo development GO:0009790 9.63 PTF1A SHH
13 lung development GO:0030324 9.63 FOXF1 SHH ZIC3
14 neuron fate commitment GO:0048663 9.62 PTF1A SHH
15 positive regulation of mesenchymal cell proliferation GO:0002053 9.61 FOXF1 SHH
16 limb morphogenesis GO:0035108 9.59 HOXD13 PCSK5
17 hindbrain development GO:0030902 9.58 PTF1A SHH
18 renal system development GO:0072001 9.58 FOXF1 SHH
19 lung morphogenesis GO:0060425 9.57 FOXF1 SHH
20 embryonic digestive tract morphogenesis GO:0048557 9.56 FOXF1 SHH
21 male genitalia development GO:0030539 9.55 HOXD13 SHH
22 embryonic digestive tract development GO:0048566 9.52 FOXF1 PCSK5
23 intermediate filament organization GO:0045109 9.51 EPPK1 SHH
24 pattern specification process GO:0007389 9.5 HOXD13 SHH ZIC3
25 epithelial tube branching involved in lung morphogenesis GO:0060441 9.48 FOXF1 SHH
26 anterior/posterior pattern specification GO:0009952 9.46 HOXD13 PCSK5 SHH ZIC3
27 embryonic foregut morphogenesis GO:0048617 9.43 FOXF1 SHH
28 pancreas development GO:0031016 9.43 FOXF1 PTF1A SHH
29 lung lobe morphogenesis GO:0060463 9.4 FOXF1 SHH
30 trachea development GO:0060438 9.37 FOXF1 SHH
31 determination of left/right symmetry GO:0007368 9.26 FOXF1 PCSK5 SHH ZIC3
32 prostate gland development GO:0030850 9.19 SHH
33 respiratory tube development GO:0030323 8.8 FOXF1 PCSK5 SHH

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

id Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.13 HOXD13 PTF1A ZIC3
2 sequence-specific DNA binding GO:0043565 8.92 FOXF1 HOXD13 PTF1A ZIC3

Sources for Vacterl Association

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....