MCID: VCT001
MIFTS: 39

Vacterl Association

Categories: 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 205830006 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 depend 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 hydrocephalus and vacterl association with hydrocephaly, x-linked. An important gene associated with Vacterl Association is HOXD13 (Homeobox D13). 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 62)
# Related Disease Score Top Affiliating Genes
1 vacterl association with hydrocephalus 34.0 FANCB PTEN
2 vacterl association with hydrocephaly, x-linked 34.0 FANCB ZIC3
3 vater/vacterl association 32.0 EPPK1 FOXF1 HOXD13 ZIC3
4 esophageal atresia 30.7 FOXF1 LPP SHH
5 hydrocephalus 29.5 FANCB PTEN ZIC3
6 tracheoesophageal fistula 27.9 FANCB HOXD13 PTEN SHH ZIC3
7 vacterl association, x-linked, with or without hydrocephalus 12.5
8 vacterl hydrocephaly 11.5
9 fanconi anemia, complementation group a 11.2
10 tracheal agenesis 11.2
11 esophagitis 10.0
12 tracheoesophageal fistula with or without esophageal atresia 9.9
13 pancreas, annular 9.9
14 sirenomelia 9.9
15 nonspecific interstitial pneumonia 9.8 FOXF1 SHH
16 prune belly syndrome 9.8
17 total anomalous pulmonary venous return 1 9.8
18 cakut 9.8
19 urethritis 9.8
20 atresia of urethra 9.8
21 acute t cell leukemia 9.6 LPP PTEN
22 fibromuscular dysplasia 9.6
23 diaphragmatic hernia, congenital 9.6
24 hemifacial microsomia 9.6
25 neural tube defects 9.6
26 tetralogy of fallot 9.6
27 renal hypodysplasia/aplasia 1 9.6
28 anus, imperforate 9.6
29 bronchomalacia 9.6
30 baller-gerold syndrome 9.6
31 duodenal atresia 9.6
32 moyamoya disease 1 9.6
33 biotinidase deficiency 9.6
34 mayer-rokitansky-kuster-hauser syndrome 9.6
35 neural tube defects, folate-sensitive 9.6
36 anal atresia, hypospadias, and penoscrotal inversion 9.6
37 polydactyly 9.6
38 aortic valve disease 2 9.6
39 arteriovenous fistula 9.6
40 chronic kidney failure 9.6
41 sacrococcygeal teratoma 9.6
42 scoliosis 9.6
43 tracheomalacia 9.6
44 esophageal atresia/tracheoesophageal fistula 9.6
45 arachnoiditis 9.6
46 pancytopenia 9.6
47 duane retraction syndrome 9.6
48 teratoma 9.6
49 laryngitis 9.6
50 urinary tract obstruction 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.87 SHH TRAP1 ZIC3 EPPK1 FANCB LPP
2 digestive/alimentary MP:0005381 9.65 SHH ZIC3 FOXF1 HOXD13 PTEN
3 embryo MP:0005380 9.55 SHH ZIC3 FOXF1 HOXD13 PTEN
4 limbs/digits/tail MP:0005371 9.26 SHH ZIC3 HOXD13 PTEN
5 reproductive system MP:0005389 9.1 ZIC3 FANCB HOXD13 LPP PTEN SHH

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 29
2 Vater Association 29 HOXD13

Anatomical Context for Vacterl Association

MalaCards organs/tissues related to Vacterl Association:

41
Kidney, Heart, Pancreas, Trachea, Lung, Testes

Publications for Vacterl Association

Articles related to Vacterl Association:

(show top 50) (show all 158)
# 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
Sirenomelia with VACTERL association-a rare anomaly. ( 29031871 )
2017
4
A Rare Case of Pulmonary Artery Sling with the VACTERL Association in a 20-Month-Old Infant. ( 29062381 )
2017
5
Bilateral cochlear nerve absence in a 3 year old child with VACTERL association. ( 28109502 )
2017
6
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. ( 28403078 )
2017
7
Ectopic Scrotum with VACTERL Association. ( 28770133 )
2017
8
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. ( 27084730 )
2016
9
VACTERL Association with Sacrococcygeal Teratoma. ( 27567656 )
2016
10
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. ( 26881326 )
2016
11
Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus. ( 26929876 )
2016
12
Moyamoya Disease in a Patient with VACTERL Association. ( 26844876 )
2016
13
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. ( 26857713 )
2016
14
Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association. ( 27061706 )
2016
15
Novel FANCI mutations in Fanconi anemia with VACTERL association. ( 26590883 )
2016
16
Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association. ( 29485824 )
2016
17
VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. ( 25988067 )
2015
18
PCSK5 mutation in a patient with the VACTERL association. ( 26055999 )
2015
19
A patient with VACTERL association for caesarean delivery. ( 26019364 )
2015
20
Kidney transplantation in an adult patient with VACTERL association. ( 26106170 )
2015
21
UHL'S ANOMALY AS A PART OF VACTERL ASSOCIATION. ( 26349203 )
2015
22
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
23
The VACTERL Association as a disturbance of cell fate determination. ( 26174174 )
2015
24
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. ( 26294094 )
2015
25
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. ( 25754594 )
2015
26
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2015
27
Prenatal diagnosis of the VACTERL association using routine ultrasound examination. ( 26033534 )
2015
28
VACTERL association in anorectal malformation: effect on the outcome. ( 26143411 )
2015
29
Clinical, Cytogenetic, Environmental and Inheritance Findings in Mexican Neonates with VACTERL Association. ( 25008186 )
2014
30
A case of VACTERL and non-VACTERL association without the "V and L". ( 24591785 )
2014
31
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association. ( 24416387 )
2014
32
Scimitar syndrome in a case with VACTERL association. ( 24905790 )
2014
33
An aberrant subclavian artery exhibiting the partial steal phenomenon in a patient with VACTERL association. ( 25130125 )
2014
34
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. ( 25059024 )
2014
35
Recessive mutations in CAKUT and VACTERL association. ( 24875543 )
2014
36
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
37
Analysis of renal anomalies in VACTERL association. ( 25196458 )
2014
38
Considering the Embryopathogenesis of VACTERL Association. ( 23653571 )
2013
39
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
40
VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia. ( 24368291 )
2013
41
Adriamycin-Induced Models of VACTERL Association. ( 23653576 )
2013
42
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. ( 23526679 )
2013
43
Anesthetic management of a parturient with VACTERL association undergoing Cesarean delivery. ( 23519725 )
2013
44
VATER/VACTERL Association: Evidence for the Role of Genetic Factors. ( 23653572 )
2013
45
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. ( 24152966 )
2013
46
Analysis of cardiac anomalies in VACTERL association. ( 24343877 )
2013
47
Sporadic VACTERL association in a Japanese family with SjAPgren-Larsson syndrome. ( 23450279 )
2013
48
VACTERL association with double-chambered left ventricle: A rare occurrence. ( 24688248 )
2013
49
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. ( 23549274 )
2013
50
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. ( 23653574 )
2013

Variations for Vacterl Association

ClinVar genetic disease variations for Vacterl Association:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXF1 NM_001451.2(FOXF1): c.658G> T (p.Gly220Cys) single nucleotide variant Likely pathogenic rs752504125 GRCh38 Chromosome 16, 86511227: 86511227
2 FOXF1 NM_001451.2(FOXF1): c.658G> T (p.Gly220Cys) single nucleotide variant Likely pathogenic rs752504125 GRCh37 Chromosome 16, 86544833: 86544833
3 SMYD3 GRCh37/hg19 1q44(chr1: 245900039-246475061)x1 copy number loss Likely benign GRCh37 Chromosome 1, 245900039: 246475061
4 CCDC74A; MZT2A; TUBA3D GRCh37/hg19 2q21.1(chr2: 132140614-132312325)x3 copy number gain Likely benign GRCh37 Chromosome 2, 132140614: 132312325
5 PARM1 GRCh37/hg19 4q13.3(chr4: 75720151-75883784)x1 copy number loss Likely benign GRCh37 Chromosome 4, 75720151: 75883784
6 NREP GRCh37/hg19 5q22.1(chr5: 111241351-111390356)x1 copy number loss Likely benign GRCh37 Chromosome 5, 111241351: 111390356
7 FAM170A GRCh37/hg19 5q23.1(chr5: 118890915-119082631)x1 copy number loss Likely pathogenic GRCh37 Chromosome 5, 118890915: 119082631
8 AGMO GRCh37/hg19 7p21.2(chr7: 15424383-15534832)x3 copy number gain Likely benign GRCh37 Chromosome 7, 15424383: 15534832
9 CNTNAP2 GRCh37/hg19 7q35(chr7: 147516080-147803861)x1 copy number loss Likely benign GRCh37 Chromosome 7, 147516080: 147803861
10 FBP1; FBP2 GRCh37/hg19 9q22.32(chr9: 97290466-97419146)x1 copy number loss Likely benign GRCh37 Chromosome 9, 97290466: 97419146
11 FXYD4; HNRNPF GRCh37/hg19 10q11.21(chr10: 43796180-44037408)x3 copy number gain Likely pathogenic GRCh37 Chromosome 10, 43796180: 44037408
12 SORCS1 GRCh37/hg19 10q25.1(chr10: 107722094-109081424)x3 copy number gain Likely benign GRCh37 Chromosome 10, 107722094: 109081424
13 ANKS1B; UHRF1BP1L GRCh37/hg19 12q23.1(chr12: 100367541-100489446)x1 copy number loss Likely benign GRCh37 Chromosome 12, 100367541: 100489446
14 DNAJC15; EPSTI1 GRCh37/hg19 13q14.11(chr13: 43505151-43762719)x3 copy number gain Likely benign GRCh37 Chromosome 13, 43505151: 43762719
15 GPC5 GRCh37/hg19 13q31.3(chr13: 93377562-93606814)x1 copy number loss Likely benign GRCh37 Chromosome 13, 93377562: 93606814
16 NALCN GRCh37/hg19 13q32.3-33.1(chr13: 101605129-101748121)x1 copy number loss Likely benign GRCh37 Chromosome 13, 101605129: 101748121
17 ALPK3; NMB; PDE8A; SEC11A; SLC28A1; WDR73; ZNF592; ZSCAN2 GRCh37/hg19 15q25.2-25.3(chr15: 84931022-85728834)x1 copy number loss Likely benign GRCh37 Chromosome 15, 84931022: 85728834
18 CDH13 GRCh37/hg19 16q23.3(chr16: 83414018-83518410)x1 copy number loss Likely pathogenic GRCh37 Chromosome 16, 83414018: 83518410
19 ABR; BHLHA9; TRARG1; YWHAE GRCh37/hg19 17p13.3(chr17: 1007540-1254875)x3 copy number gain Likely benign GRCh37 Chromosome 17, 1007540: 1254875
20 subset of 15 genes:HNF1B GRCh37/hg19 17q12(chr17: 34815551-36208392)x1 copy number loss Pathogenic GRCh37 Chromosome 17, 34815551: 36208392
21 B3GNTL1; METRNL; TBCD GRCh37/hg19 17q25.3(chr17: 80881583-81060040)x3 copy number gain Likely benign GRCh37 Chromosome 17, 80881583: 81060040
22 subset of 46 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18915347-21463730)x1 copy number loss Likely pathogenic GRCh37 Chromosome 22, 18915347: 21463730

Expression for Vacterl Association

Search GEO for disease gene expression data for Vacterl Association.

Pathways for Vacterl Association

GO Terms for Vacterl Association

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.93 FOXF1 HOXD13 SHH ZIC3
2 heart development GO:0007507 9.77 FOXF1 PTEN SHH
3 negative regulation of cell migration GO:0030336 9.65 EPPK1 PTEN SHH
4 smoothened signaling pathway GO:0007224 9.63 FOXF1 SHH
5 anterior/posterior pattern specification GO:0009952 9.63 HOXD13 SHH ZIC3
6 negative regulation of epithelial cell proliferation GO:0050680 9.62 EPPK1 PTEN
7 vasculogenesis GO:0001570 9.62 FOXF1 SHH
8 embryonic digit morphogenesis GO:0042733 9.61 HOXD13 SHH
9 heart looping GO:0001947 9.61 SHH ZIC3
10 embryonic limb morphogenesis GO:0030326 9.6 HOXD13 SHH
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 FOXF1 SHH
12 pancreas development GO:0031016 9.58 FOXF1 SHH
13 lung development GO:0030324 9.58 FOXF1 SHH ZIC3
14 renal system development GO:0072001 9.57 FOXF1 SHH
15 lung morphogenesis GO:0060425 9.56 FOXF1 SHH
16 male genitalia development GO:0030539 9.55 HOXD13 SHH
17 embryonic digestive tract morphogenesis GO:0048557 9.54 FOXF1 SHH
18 intermediate filament organization GO:0045109 9.52 EPPK1 SHH
19 prostate gland development GO:0030850 9.51 HOXD13 SHH
20 epithelial tube branching involved in lung morphogenesis GO:0060441 9.49 FOXF1 SHH
21 embryonic foregut morphogenesis GO:0048617 9.43 FOXF1 SHH
22 determination of left/right symmetry GO:0007368 9.43 FOXF1 SHH ZIC3
23 respiratory tube development GO:0030323 9.37 FOXF1 SHH
24 pattern specification process GO:0007389 9.33 HOXD13 SHH ZIC3
25 lung lobe morphogenesis GO:0060463 9.32 FOXF1 SHH
26 trachea development GO:0060438 8.96 FOXF1 SHH
27 negative regulation of keratinocyte migration GO:0051548 8.62 EPPK1 PTEN

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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