MCID: VCT001
MIFTS: 41

Vacterl Association

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Vacterl Association

MalaCards integrated aliases for Vacterl Association:

Name: Vacterl Association 12 76 53 25 29 13 6 15 73
Vater Association 53 25 29 6 44 73
Vater Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14679
ICD10 33 Q87.2
MeSH 44 C536534
SNOMED-CT 68 27742002

Summaries for Vacterl Association

NIH Rare Diseases : 53 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 depends on the symptoms, and may include surgery to repair the birth defects, followed by long-term managment.

MalaCards based summary : Vacterl Association, also known as vater association, is related to vacterl association with hydrocephaly, x-linked 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 : 76 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 80)
# Related Disease Score Top Affiliating Genes
1 vacterl association with hydrocephaly, x-linked 33.8 FANCB ZIC3
2 vater/vacterl association 33.1 EPPK1 FOXF1 HOXD13 PTF1A ZIC3
3 esophageal atresia 31.8 FOXF1 LPP SHH
4 tracheoesophageal fistula 29.6 HOXD13 LPP SHH ZIC3
5 baller-gerold syndrome 29.5 FANCB HOXD13
6 vacterl association, x-linked, with or without hydrocephalus 12.7
7 vacterl association with hydrocephalus 12.6
8 vacterl hydrocephaly 11.7
9 fanconi anemia, complementation group a 11.4
10 tracheal agenesis 11.4
11 tracheoesophageal fistula with or without esophageal atresia 10.2
12 pancreas, annular 10.0
13 hydrocephalus 10.0
14 sirenomelia 10.0
15 nonspecific interstitial pneumonia 9.9 FOXF1 SHH
16 prune belly syndrome 9.9
17 total anomalous pulmonary venous return 1 9.9
18 renal hypodysplasia/aplasia 1 9.9
19 scoliosis 9.9
20 cakut 9.9
21 atresia of urethra 9.9
22 neurofibromatosis, type i 9.9
23 somatostatinoma 9.9
24 sympathetic ophthalmia 9.9
25 congenital achiasma 9.8
26 fibromuscular dysplasia 9.8
27 diaphragmatic hernia, congenital 9.8
28 hemifacial microsomia 9.8
29 neural tube defects 9.8
30 tetralogy of fallot 9.8
31 anus, imperforate 9.8
32 bronchomalacia 9.8
33 duodenal atresia 9.8
34 moyamoya disease 1 9.8
35 biotinidase deficiency 9.8
36 mayer-rokitansky-kuster-hauser syndrome 9.8
37 neural tube defects, folate-sensitive 9.8
38 anal atresia, hypospadias, and penoscrotal inversion 9.8
39 polydactyly 9.8
40 aortic valve disease 2 9.8
41 chitayat syndrome 9.8
42 renal hypodysplasia/aplasia 3 9.8
43 chronic kidney failure 9.8
44 crohn's disease 9.8
45 sacrococcygeal teratoma 9.8
46 tracheomalacia 9.8
47 esophageal atresia/tracheoesophageal fistula 9.8
48 heart disease 9.8
49 pancytopenia 9.8
50 duane retraction syndrome 9.8

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.87 EPPK1 FANCB LPP PTF1A SHH TRAP1
2 digestive/alimentary MP:0005381 9.65 FOXF1 HOXD13 PTF1A SHH ZIC3
3 embryo MP:0005380 9.55 FOXF1 HOXD13 PTF1A SHH ZIC3
4 limbs/digits/tail MP:0005371 9.26 HOXD13 PTF1A SHH ZIC3
5 reproductive system MP:0005389 9.02 FANCB HOXD13 LPP 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
2 Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway Not yet recruiting NCT03799705

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 29
2 Vater Association 29

Anatomical Context for Vacterl Association

MalaCards organs/tissues related to Vacterl Association:

41
Kidney, Heart, Pancreas, Lung, Spinal Cord, Testes, Uterus

Publications for Vacterl Association

Articles related to Vacterl Association:

(show top 50) (show all 248)
# Title Authors Year
1
Urethral duplication in a child with VATER association. ( 30534525 )
2019
2
Congenital Malformations Resembling VACTERL Association in a Golden Retriever. ( 29131674 )
2018
3
Crohn's disease in a girl with VACTERL association: Can mitochondrial dysfunction coexist? ( 30455041 )
2018
4
Closer location of the tracheoesophageal fistula to the carina in newborns with esophageal atresia and VACTERL association. ( 30503021 )
2018
5
Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report. ( 30407282 )
2018
6
Phenotypic diversity of patients diagnosed with VACTERL association. ( 30152190 )
2018
7
Attention difficulties and physical dysfunction common in children with complex congenital malformations: a study of preschool children with VACTERL association. ( 30187514 )
2018
8
Congenital Great Toe Hypoplasia Equivalent to a Grade 3 Hypoplastic Thumb in a Patient with VACTERL Association. ( 30428812 )
2018
9
A vascular anomaly of the iliac artery in a patient with VATER association. ( 29636942 )
2018
10
Severe unicuspid aortic valve stenosis: VACTERL association. ( 28942414 )
2017
11
Sirenomelia with VACTERL association-a rare anomaly. ( 29031871 )
2017
12
A Rare Case of Pulmonary Artery Sling with the VACTERL Association in a 20-Month-Old Infant. ( 29062381 )
2017
13
Bilateral cochlear nerve absence in a 3 year old child with VACTERL association. ( 28109502 )
2017
14
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. ( 28403078 )
2017
15
Ectopic Scrotum with VACTERL Association. ( 28770133 )
2017
16
Vestibular Derangement and Motion Intolerance in VATER Association. ( 28611930 )
2017
17
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. ( 27084730 )
2016
18
VACTERL Association with Sacrococcygeal Teratoma. ( 27567656 )
2016
19
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. ( 26881326 )
2016
20
Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus. ( 26929876 )
2016
21
Moyamoya Disease in a Patient with VACTERL Association. ( 26844876 )
2016
22
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. ( 26857713 )
2016
23
Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association. ( 27061706 )
2016
24
Novel FANCI mutations in Fanconi anemia with VACTERL association. ( 26590883 )
2016
25
Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association. ( 29485824 )
2016
26
VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. ( 25988067 )
2015
27
PCSK5 mutation in a patient with the VACTERL association. ( 26055999 )
2015
28
A patient with VACTERL association for caesarean delivery. ( 26019364 )
2015
29
Kidney transplantation in an adult patient with VACTERL association. ( 26106170 )
2015
30
UHL'S ANOMALY AS A PART OF VACTERL ASSOCIATION. ( 26349203 )
2015
31
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
32
The VACTERL Association as a disturbance of cell fate determination. ( 26174174 )
2015
33
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. ( 26294094 )
2015
34
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. ( 25754594 )
2015
35
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2015
36
Prenatal diagnosis of the VACTERL association using routine ultrasound examination. ( 26033534 )
2015
37
VACTERL association in anorectal malformation: effect on the outcome. ( 26143411 )
2015
38
Clinical, Cytogenetic, Environmental and Inheritance Findings in Mexican Neonates with VACTERL Association. ( 25008186 )
2014
39
A case of VACTERL and non-VACTERL association without the "V and L". ( 24591785 )
2014
40
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association. ( 24416387 )
2014
41
Scimitar syndrome in a case with VACTERL association. ( 24905790 )
2014
42
An aberrant subclavian artery exhibiting the partial steal phenomenon in a patient with VACTERL association. ( 25130125 )
2014
43
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. ( 25059024 )
2014
44
Recessive mutations in CAKUT and VACTERL association. ( 24875543 )
2014
45
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
46
Analysis of renal anomalies in VACTERL association. ( 25196458 )
2014
47
Monochorionic-monoamniotic twins discordant for VATER association. ( 25073497 )
2014
48
Considering the Embryopathogenesis of VACTERL Association. ( 23653571 )
2013
49
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
50
VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia. ( 24368291 )
2013

Variations for Vacterl Association

ClinVar genetic disease variations for Vacterl Association:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXD13 NM_000523.3(HOXD13): c.164_184del21 (p.Gly55_Ala61del) deletion Uncertain significance rs587776824 GRCh37 Chromosome 2, 176957782: 176957802
2 HOXD13 NM_000523.3(HOXD13): c.164_184del21 (p.Gly55_Ala61del) deletion Uncertain significance rs587776824 GRCh38 Chromosome 2, 176093054: 176093074

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 29)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.94 HOXD13 PTF1A SHH ZIC3
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.93 FOXF1 HOXD13 PTF1A SHH ZIC3
3 positive regulation of transcription, DNA-templated GO:0045893 9.9 FOXF1 PTF1A SHH ZIC3
4 transcription by RNA polymerase II GO:0006366 9.89 FOXF1 HOXD13 PTF1A ZIC3
5 smoothened signaling pathway GO:0007224 9.64 FOXF1 SHH
6 cell fate commitment GO:0045165 9.63 PTF1A SHH
7 heart looping GO:0001947 9.63 SHH ZIC3
8 anterior/posterior pattern specification GO:0009952 9.63 HOXD13 SHH ZIC3
9 vasculogenesis GO:0001570 9.62 FOXF1 SHH
10 embryonic digit morphogenesis GO:0042733 9.62 HOXD13 SHH
11 embryonic limb morphogenesis GO:0030326 9.61 HOXD13 SHH
12 neuron fate commitment GO:0048663 9.61 PTF1A SHH
13 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 FOXF1 SHH
14 renal system development GO:0072001 9.58 FOXF1 SHH
15 lung development GO:0030324 9.58 FOXF1 SHH ZIC3
16 hindbrain development GO:0030902 9.57 PTF1A SHH
17 lung morphogenesis GO:0060425 9.56 FOXF1 SHH
18 male genitalia development GO:0030539 9.55 HOXD13 SHH
19 embryonic digestive tract morphogenesis GO:0048557 9.52 FOXF1 SHH
20 intermediate filament organization GO:0045109 9.51 EPPK1 SHH
21 epithelial tube branching involved in lung morphogenesis GO:0060441 9.49 FOXF1 SHH
22 prostate gland development GO:0030850 9.48 HOXD13 SHH
23 embryonic foregut morphogenesis GO:0048617 9.43 FOXF1 SHH
24 determination of left/right symmetry GO:0007368 9.43 FOXF1 SHH ZIC3
25 lung lobe morphogenesis GO:0060463 9.37 FOXF1 SHH
26 pattern specification process GO:0007389 9.33 HOXD13 SHH ZIC3
27 respiratory tube development GO:0030323 9.32 FOXF1 SHH
28 trachea development GO:0060438 8.96 FOXF1 SHH
29 pancreas development GO:0031016 8.8 FOXF1 PTF1A SHH

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

# Name GO ID Score Top Affiliating Genes
1 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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