Aliases & Classifications for Vacterl Association

Summaries for Vacterl Association

NIH Rare Diseases : 49 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 vater/vacterl association and esophageal atresia. An important gene associated with Vacterl Association is HOXD13 (Homeobox D13), 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 : 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 : 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 62)
# Related Disease Score Top Affiliating Genes
1 vater/vacterl association 32.2 EPPK1 FOXF1 HOXD13 PTF1A ZIC3
2 esophageal atresia 31.5 FOXF1 LPP SHH
3 tracheoesophageal fistula 29.7 HOXD13 SHH
4 vacterl association, x-linked, with or without hydrocephalus 12.5
5 vacterl association with hydrocephalus 12.5
6 vacterl association with hydrocephaly, x-linked 12.3
7 fanconi anemia, complementation group a 11.2
8 tracheal agenesis 11.2
9 vacterl hydrocephaly 11.2
10 nonspecific interstitial pneumonia 10.1 FOXF1 SHH
11 esophagitis 10.0
12 tracheoesophageal fistula with or without esophageal atresia 9.9
13 sirenomelia 9.9
14 total anomalous pulmonary venous return 1 9.8
15 pancreas, annular 9.8
16 hydrocephalus 9.8
17 urethritis 9.8
18 atresia of urethra 9.8
19 prune belly syndrome 9.6
20 fibromuscular dysplasia 9.6
21 diaphragmatic hernia, congenital 9.6
22 lipomatosis, multiple 9.6
23 hemifacial microsomia 9.6
24 neural tube defects 9.6
25 tetralogy of fallot 9.6
26 renal hypodysplasia/aplasia 1 9.6
27 anus, imperforate 9.6
28 baller-gerold syndrome 9.6
29 duodenal atresia 9.6
30 moyamoya disease 1 9.6
31 biotinidase deficiency 9.6
32 mayer-rokitansky-kuster-hauser syndrome 9.6
33 neural tube defects, folate-sensitive 9.6
34 anal atresia, hypospadias, and penoscrotal inversion 9.6
35 polydactyly 9.6
36 fanconi anemia, complementation group l 9.6
37 aortic valve disease 2 9.6
38 arteriovenous fistula 9.6
39 chronic kidney failure 9.6
40 sacrococcygeal teratoma 9.6
41 scoliosis 9.6
42 esophageal atresia/tracheoesophageal fistula 9.6
43 heart disease 9.6
44 arachnoiditis 9.6
45 pancytopenia 9.6
46 duane retraction syndrome 9.6
47 teratoma 9.6
48 laryngitis 9.6
49 urinary tract obstruction 9.6
50 kidney disease 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:

43
# 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 9.73 FOXF1 HOXD13 PCSK5 PTF1A SHH ZIC3
4 limbs/digits/tail MP:0005371 9.55 PCSK5 PTF1A SHH ZIC3 HOXD13
5 mortality/aging MP:0010768 9.5 FOXF1 HOXD13 LPP PCSK5 PTF1A SHH
6 respiratory system MP:0005388 9.02 FOXF1 PCSK5 PTF1A SHH ZIC3

Drugs & Therapeutics for Vacterl Association

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Vacterl Association 28
2 Vater Association 28 HOXD13

Anatomical Context for Vacterl Association

MalaCards organs/tissues related to Vacterl Association:

38
Kidney, Heart, Pancreas, Trachea, Lung, Testes

Publications for Vacterl Association

Articles related to Vacterl Association:

(show top 50) (show all 155)
# Title Authors Year
1
Congenital Malformations Resembling VACTERL Association in a Golden Retriever. ( 29131674 )
2018
2
Severe unicuspid aortic valve stenosis: VACTERL association. ( 28942414 )
2017
3
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. ( 28403078 )
2017
4
Ectopic Scrotum with VACTERL Association. ( 28770133 )
2017
5
Bilateral cochlear nerve absence in a 3 year old child with VACTERL association. ( 28109502 )
2017
6
Sirenomelia with VACTERL association-a rare anomaly. ( 29031871 )
2017
7
A Rare Case of Pulmonary Artery Sling with the VACTERL Association in a 20-Month-Old Infant. ( 29062381 )
2017
8
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. ( 26857713 )
2016
9
Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus. ( 26929876 )
2016
10
Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association. ( 27061706 )
2016
11
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. ( 27084730 )
2016
12
Novel FANCI mutations in Fanconi anemia with VACTERL association. ( 26590883 )
2016
13
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. ( 26881326 )
2016
14
Moyamoya Disease in a Patient with VACTERL Association. ( 26844876 )
2016
15
VACTERL Association with Sacrococcygeal Teratoma. ( 27567656 )
2016
16
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
17
A patient with VACTERL association for caesarean delivery. ( 26019364 )
2015
18
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. ( 26294094 )
2015
19
PCSK5 mutation in a patient with the VACTERL association. ( 26055999 )
2015
20
VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. ( 25988067 )
2015
21
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. ( 25754594 )
2015
22
Kidney transplantation in an adult patient with VACTERL association. ( 26106170 )
2015
23
UHL'S ANOMALY AS A PART OF VACTERL ASSOCIATION. ( 26349203 )
2015
24
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2015
25
Prenatal diagnosis of the VACTERL association using routine ultrasound examination. ( 26033534 )
2015
26
VACTERL association in anorectal malformation: effect on the outcome. ( 26143411 )
2015
27
The VACTERL Association as a disturbance of cell fate determination. ( 26174174 )
2015
28
Scimitar syndrome in a case with VACTERL association. ( 24905790 )
2014
29
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
30
A case of VACTERL and non-VACTERL association without the "V and L". ( 24591785 )
2014
31
An aberrant subclavian artery exhibiting the partial steal phenomenon in a patient with VACTERL association. ( 25130125 )
2014
32
Recessive mutations in CAKUT and VACTERL association. ( 24875543 )
2014
33
Clinical, Cytogenetic, Environmental and Inheritance Findings in Mexican Neonates with VACTERL Association. ( 25008186 )
2014
34
Analysis of renal anomalies in VACTERL association. ( 25196458 )
2014
35
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association. ( 24416387 )
2014
36
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. ( 25059024 )
2014
37
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. ( 23653573 )
2013
38
Adriamycin-Induced Models of VACTERL Association. ( 23653576 )
2013
39
Sporadic VACTERL association in a Japanese family with SjAPgren-Larsson syndrome. ( 23450279 )
2013
40
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
41
Anesthetic management of a parturient with VACTERL association undergoing Cesarean delivery. ( 23519725 )
2013
42
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. ( 24152966 )
2013
43
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. ( 23526679 )
2013
44
Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation. ( 23933666 )
2013
45
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. ( 23653574 )
2013
46
VATER/VACTERL Association: Evidence for the Role of Genetic Factors. ( 23653572 )
2013
47
Monochorionic twin fetus with VACTERL association after intracytoplasmic sperm injection. ( 23751045 )
2013
48
Considering the Embryopathogenesis of VACTERL Association. ( 23653571 )
2013
49
Sonic Hedgehog Signaling and VACTERL Association. ( 23653575 )
2013
50
Analysis of cardiac anomalies in VACTERL association. ( 24343877 )
2013

Variations for Vacterl Association

ClinVar genetic disease variations for Vacterl Association:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 15 genes:HNF1B GRCh37/hg19 17q12(chr17: 34815551-36208392)x1 copy number loss Pathogenic GRCh37 Chromosome 17, 34815551: 36208392

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:

# Super pathways Score Top Affiliating Genes
1 10.92 FOXF1 PTF1A SHH

GO Terms for Vacterl Association

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.92 FOXF1 HOXD13 PTF1A SHH ZIC3
2 transcription by RNA polymerase II GO:0006366 9.91 FOXF1 HOXD13 PTF1A ZIC3
3 positive regulation of transcription, DNA-templated GO:0045893 9.9 FOXF1 PTF1A SHH 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 renal system development GO:0072001 9.58 FOXF1 SHH
18 hindbrain development GO:0030902 9.58 PTF1A 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 9.54 FOXF1 PCSK5
23 intermediate filament organization GO:0045109 9.51 EPPK1 SHH
24 pattern specification process GO:0007389 9.5 HOXD13 SHH ZIC3
25 prostate gland development GO:0030850 9.49 HOXD13 SHH
26 epithelial tube branching involved in lung morphogenesis GO:0060441 9.48 FOXF1 SHH
27 anterior/posterior pattern specification GO:0009952 9.46 HOXD13 PCSK5 SHH ZIC3
28 embryonic foregut morphogenesis GO:0048617 9.43 FOXF1 SHH
29 pancreas development GO:0031016 9.43 FOXF1 PTF1A SHH
30 lung lobe morphogenesis GO:0060463 9.4 FOXF1 SHH
31 trachea development GO:0060438 9.37 FOXF1 SHH
32 determination of left/right symmetry GO:0007368 9.26 FOXF1 PCSK5 SHH ZIC3
33 respiratory tube development GO:0030323 8.8 FOXF1 PCSK5 SHH

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

# Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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....