MCID: VCT001
MIFTS: 45

Vacterl Association

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Vacterl Association

MalaCards integrated aliases for Vacterl Association:

Name: Vacterl Association 12 77 54 26 30 13 6 15 74
Vater Association 54 26 30 6 45 74
Vater Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14679
MeSH 45 C536534
SNOMED-CT 69 27742002
ICD10 34 Q87.2

Summaries for Vacterl Association

NIH Rare Diseases : 54 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. The drugs Nicotinamide and Niacin have been mentioned in the context of this disorder. Affiliated tissues include kidney, pancreas and spinal cord, 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 : 26 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 : 77 The VACTERL association (also VATER association and inaccurately as VACTERL syndrome) refers to a... 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 100)
# Related Disease Score Top Affiliating Genes
1 vacterl association with hydrocephaly, x-linked 33.9 FANCB ZIC3
2 vater/vacterl association 33.2 FOXF1 HOXD13 PTF1A ZIC3
3 esophageal atresia 31.7 FOXF1 LPP SHH
4 anus, imperforate 29.7 FANCB HOXD13
5 baller-gerold syndrome 29.4 FANCB HOXD13
6 tracheoesophageal fistula 29.4 HOXD13 LPP SHH ZIC3
7 vacterl association, x-linked, with or without hydrocephalus 12.7
8 vacterl association with hydrocephalus 12.7
9 vacterl hydrocephaly 11.7
10 fanconi anemia, complementation group a 11.4
11 tracheal agenesis 11.4
12 tracheoesophageal fistula with or without esophageal atresia 10.2
13 pancreas, annular 10.0
14 hydrocephalus 10.0
15 sirenomelia 10.0
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 congenital hydrocephalus 9.9
22 atresia of urethra 9.9
23 nonspecific interstitial pneumonia 9.9 FOXF1 SHH
24 neurofibromatosis, type i 9.9
25 neurofibromatosis, type iv, of riccardi 9.9
26 somatostatinoma 9.9
27 sympathetic ophthalmia 9.9
28 pathologic nystagmus 9.8
29 congenital achiasma 9.8
30 fibromuscular dysplasia 9.8
31 diaphragmatic hernia, congenital 9.8
32 lipomatosis, multiple 9.8
33 macular degeneration, age-related, 2 9.8
34 hemifacial microsomia 9.8
35 neural tube defects 9.8
36 tetralogy of fallot 9.8
37 down syndrome 9.8
38 bronchomalacia 9.8
39 mitochondrial complex iv deficiency 9.8
40 duodenal atresia 9.8
41 miller-dieker lissencephaly syndrome 9.8
42 3-methylglutaconic aciduria, type i 9.8
43 moyamoya disease 1 9.8
44 biotinidase deficiency 9.8
45 sjogren-larsson syndrome 9.8
46 mayer-rokitansky-kuster-hauser syndrome 9.8
47 fanconi anemia, complementation group b 9.8
48 cyclic vomiting syndrome 9.8
49 diabetes and deafness, maternally inherited 9.8
50 neural tube defects, folate-sensitive 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.98 FANCB LPP PCSK5 PTF1A SHH TRAP1
2 digestive/alimentary MP:0005381 9.88 FOXF1 HOXD13 PCSK5 PTF1A SHH ZIC3
3 embryo MP:0005380 9.85 FOXF1 HOXD13 PCSK5 PTF1A SHH ZIC3
4 endocrine/exocrine gland MP:0005379 9.8 FANCB HOXD13 PCSK5 PTF1A SHH TRAP1
5 growth/size/body region MP:0005378 9.8 FANCB HOXD13 PCSK5 PTF1A SHH TRAP1
6 limbs/digits/tail MP:0005371 9.55 HOXD13 PCSK5 PTF1A SHH ZIC3
7 mortality/aging MP:0010768 9.5 FOXF1 HOXD13 LPP PCSK5 PTF1A SHH
8 respiratory system MP:0005388 9.02 FOXF1 PCSK5 PTF1A SHH ZIC3

Drugs & Therapeutics for Vacterl Association

Drugs for Vacterl Association (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational 98-92-0 936
2
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
3
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
4 Nicotinic Acids
5 Vitamin B3
6 Vitamins
7 Vitamin B Complex
8 Vasodilator Agents
9 Folate
10 Micronutrients
11 Nutrients
12 Trace Elements
13 Hypolipidemic Agents
14 Vitamin B9
15 Antimetabolites
16 Lipid Regulating Agents

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 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 30
2 Vater Association 30

Anatomical Context for Vacterl Association

MalaCards organs/tissues related to Vacterl Association:

42
Kidney, Pancreas, Spinal Cord, Eye, Testis, Uterus, Appendix

Publications for Vacterl Association

Articles related to Vacterl Association:

(show top 50) (show all 265)
# Title Authors Year
1
From crisis to self-confidence and adaptation; Experiences of being a parent of a child with VACTERL association - A complex congenital malformation. ( 31002700 )
2019
2
The DATE Association: A Separate Entity or a Further Extension of the VACTERL Association? ( 31022678 )
2019
3
Urethral duplication in a child with VATER association. ( 30534525 )
2019
4
Crohn's disease in a girl with VACTERL association: Can mitochondrial dysfunction coexist? ( 30455041 )
2018
5
Closer location of the tracheoesophageal fistula to the carina in newborns with esophageal atresia and VACTERL association. ( 30503021 )
2018
6
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
7
Sirenomelia with VACTERL association-a rare anomaly. ( 29031871 )
2018
8
VACTERL association - Ultrasound findings and autopsy correlation. ( 30662209 )
2018
9
The etiology of VACTERL association: Current knowledge and hypotheses. ( 30580478 )
2018
10
Congenital Great Toe Hypoplasia Equivalent to a Grade 3 Hypoplastic Thumb in a Patient with VACTERL Association. ( 30428812 )
2018
11
Attention difficulties and physical dysfunction common in children with complex congenital malformations: a study of preschool children with VACTERL association. ( 30187514 )
2018
12
Phenotypic diversity of patients diagnosed with VACTERL association. ( 30152190 )
2018
13
Congenital Malformations Resembling VACTERL Association in a Golden Retriever. ( 29131674 )
2018
14
A vascular anomaly of the iliac artery in a patient with VATER association. ( 29636942 )
2018
15
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. ( 28403078 )
2017
16
A Rare Case of Pulmonary Artery Sling with the VACTERL Association in a 20-Month-Old Infant. ( 29062381 )
2017
17
Severe unicuspid aortic valve stenosis: VACTERL association. ( 28942414 )
2017
18
Ectopic Scrotum with VACTERL Association. ( 28770133 )
2017
19
Bilateral cochlear nerve absence in a 3 year old child with VACTERL association. ( 28109502 )
2017
20
Vestibular Derangement and Motion Intolerance in VATER Association. ( 28611930 )
2017
21
Aberrant Right Subclavian Artery-Esophageal Fistula in 20-Year-Old with VATER Association. ( 31073436 )
2017
22
Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association. ( 29485824 )
2016
23
Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus. ( 26929876 )
2016
24
VACTERL Association with Sacrococcygeal Teratoma. ( 27567656 )
2016
25
Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association. ( 27061706 )
2016
26
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. ( 27084730 )
2016
27
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. ( 26881326 )
2016
28
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. ( 26857713 )
2016
29
Moyamoya Disease in a Patient with VACTERL Association. ( 26844876 )
2016
30
Novel FANCI mutations in Fanconi anemia with VACTERL association. ( 26590883 )
2016
31
VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia. ( 24368291 )
2016
32
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2016
33
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
34
Scimitar syndrome in a case with VACTERL association. ( 24905790 )
2015
35
Clinical, cytogenetic, environmental and inheritance findings in Mexican neonates with VACTERL association. ( 25008186 )
2015
36
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. ( 25754594 )
2015
37
VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. ( 25988067 )
2015
38
A patient with VACTERL association for caesarean delivery. ( 26019364 )
2015
39
Prenatal diagnosis of the VACTERL association using routine ultrasound examination. ( 26033534 )
2015
40
PCSK5 mutation in a patient with the VACTERL association. ( 26055999 )
2015
41
Kidney transplantation in an adult patient with VACTERL association. ( 26106170 )
2015
42
VACTERL association in anorectal malformation: effect on the outcome. ( 26143411 )
2015
43
The VACTERL Association as a disturbance of cell fate determination. ( 26174174 )
2015
44
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. ( 26294094 )
2015
45
UHL'S ANOMALY AS A PART OF VACTERL ASSOCIATION. ( 26349203 )
2015
46
An aberrant subclavian artery exhibiting the partial steal phenomenon in a patient with VACTERL association. ( 25130125 )
2014
47
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. ( 24152966 )
2014
48
Recessive mutations in CAKUT and VACTERL association. ( 24875543 )
2014
49
Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation. ( 23933666 )
2014
50
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association. ( 24416387 )
2014

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_184del (p.Gly55_Ala61del) deletion Uncertain significance rs587776824 GRCh37 Chromosome 2, 176957782: 176957802
2 HOXD13 NM_000523.3(HOXD13): c.164_184del (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 32)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.96 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 9.91 FOXF1 PTF1A SHH ZIC3
4 heart development GO:0007507 9.79 FOXF1 PCSK5 SHH
5 smoothened signaling pathway GO:0007224 9.65 FOXF1 SHH
6 cell fate commitment GO:0045165 9.65 PTF1A SHH
7 heart looping GO:0001947 9.64 SHH ZIC3
8 vasculogenesis GO:0001570 9.64 FOXF1 SHH
9 embryonic digit morphogenesis GO:0042733 9.63 HOXD13 SHH
10 embryonic limb morphogenesis GO:0030326 9.63 HOXD13 SHH
11 embryonic skeletal system development GO:0048706 9.62 PCSK5 SHH
12 neuron fate commitment GO:0048663 9.61 PTF1A SHH
13 lung development GO:0030324 9.61 FOXF1 SHH ZIC3
14 positive regulation of mesenchymal cell proliferation GO:0002053 9.59 FOXF1 SHH
15 limb morphogenesis GO:0035108 9.58 HOXD13 PCSK5
16 renal system development GO:0072001 9.58 FOXF1 SHH
17 hindbrain development GO:0030902 9.57 PTF1A SHH
18 lung morphogenesis GO:0060425 9.56 FOXF1 SHH
19 male genitalia development GO:0030539 9.55 HOXD13 SHH
20 pattern specification process GO:0007389 9.54 HOXD13 SHH ZIC3
21 embryonic digestive tract development GO:0048566 9.52 FOXF1 PCSK5
22 embryonic digestive tract morphogenesis GO:0048557 9.51 FOXF1 SHH
23 epithelial tube branching involved in lung morphogenesis GO:0060441 9.49 FOXF1 SHH
24 prostate gland development GO:0030850 9.48 HOXD13 SHH
25 embryonic foregut morphogenesis GO:0048617 9.46 FOXF1 SHH
26 anterior/posterior pattern specification GO:0009952 9.46 HOXD13 PCSK5 SHH ZIC3
27 pancreas development GO:0031016 9.43 FOXF1 PTF1A SHH
28 lung lobe morphogenesis GO:0060463 9.4 FOXF1 SHH
29 trachea development GO:0060438 9.32 FOXF1 SHH
30 transcription by RNA polymerase II GO:0006366 9.3 HOXD13
31 determination of left/right symmetry GO:0007368 9.26 FOXF1 PCSK5 SHH ZIC3
32 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 sequence-specific DNA binding GO:0043565 8.92 FOXF1 HOXD13 PTF1A ZIC3
2 endopeptidase activity GO:0004175 8.65 PCSK5

Sources for Vacterl Association

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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