Vacterl Association

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Vacterl Association

MalaCards integrated aliases for Vacterl Association:

Name: Vacterl Association 12 74 52 25 29 6 15 71
Vater Association 52 25 43 71
Vater Syndrome 12


External Ids:

Disease Ontology 12 DOID:14679
MeSH 43 C536534
SNOMED-CT 67 27742002
ICD10 32 Q87.2
UMLS 71 C0220708 C1735591

Summaries for Vacterl Association

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. Defects in the bones of the spine (vertebrae) are present in 60 to 80 percent of people with VACTERL association. These defects may include misshapen vertebrae, fused vertebrae, and missing or extra vertebrae. In some people, spinal problems require surgery or cause health problems, such as back pain of varying severity, throughout life. Sixty to 90 percent of individuals with VACTERL association have narrowing or blockage of the anus (anal atresia). Anal atresia may be accompanied by abnormalities of the genitalia and urinary tract (genitourinary anomalies). Heart (cardiac) defects occur in 40 to 80 percent of individuals with VACTERL association. Cardiac defects can range in severity from a life-threatening problem to a subtle defect that does not cause health problems. Fifty to 80 percent of people with VACTERL association have a tracheo-esophageal fistula, which is an abnormal connection (fistula) between the esophagus and the windpipe (trachea). Tracheo-esophageal fistula can cause problems with breathing and feeding early in life and typically requires surgical correction in infancy. Kidney (renal) anomalies occur in 50 to 80 percent of individuals with VACTERL association. Affected individuals may be missing one or both kidneys or have abnormally developed or misshapen kidneys, which can affect kidney function. Limb abnormalities are seen in 40 to 50 percent of people with VACTERL association. These abnormalities most commonly include poorly developed or missing thumbs or underdeveloped forearms and hands. Some of the features of VACTERL association can be subtle and are not identified until late in childhood or adulthood, making diagnosis of this condition difficult.

MalaCards based summary : Vacterl Association, also known as vater association, is related to vacterl association, x-linked, with or without hydrocephalus and vacterl association with hydrocephalus. An important gene associated with Vacterl Association is ZIC3 (Zic Family Member 3), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Fanconi anemia pathway. The drugs Nicotinamide and Niacin have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and bone, 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: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

NIH Rare Diseases : 52 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.

Wikipedia : 74 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 252)
# Related Disease Score Top Affiliating Genes
1 vacterl association, x-linked, with or without hydrocephalus 34.8 ZIC3 TRAP1
2 vacterl association with hydrocephalus 34.5 SALL1 PTEN KLLN FANCB
3 vacterl association with hydrocephaly, x-linked 34.4 ZIC3 FANCB
4 vater/vacterl association 33.7 ZIC3 PTF1A HOXD13 FOXF1 EPPK1 BAZ1A
5 esophageal atresia 30.5 TEF SHH LPP FOXF1 FANCL FANCI
6 hydrocephalus 30.4 ZIC3 SALL1 PTEN FANCB
7 vacterl with hydrocephalus 30.3 PTEN FANCB
8 esophageal atresia/tracheoesophageal fistula 30.0 TEF FANCB CHD7
9 duodenal atresia 29.9 TEF SHH MTHFSD FOXF1
10 chromosome 2q35 duplication syndrome 29.8 SHH SALL1 HOXD13
11 currarino syndrome 29.8 SHH PTF1A PCSK5
12 atrial heart septal defect 29.8 ZIC3 FOXF1 CHD7
13 townes-brocks syndrome 29.6 SHH SALL1 HOXD13 CHD7
14 diaphragmatic hernia, congenital 29.6 TEF SHH FOXF1
15 patent ductus arteriosus 1 29.4 ZIC3 TEF FOXF1 CHD7
16 choanal atresia, posterior 29.3 TEF CHD7 BAZ1A
17 tetralogy of fallot 29.2 ZIC3 TEF SHH LPP CHD7
18 pallister-hall syndrome 29.2 SHH SALL1 MTHFSD HOXD13 FOXF1
19 feingold syndrome 1 29.0 TEF MTHFSD FOXF1 CHD7
20 charge syndrome 28.9 TEF SHH SALL1 CHD7 BAZ1A
21 pancreas, annular 28.7 TEF SHH MTHFSD FOXL1 FOXF1
22 anus, imperforate 28.3 ZIC3 TEF SHH SALL1 MTHFSD HOXD13
23 fanconi anemia, complementation group a 11.5
24 tracheal agenesis 11.5
25 vacterl hydrocephaly 11.5
26 tracheoesophageal fistula with or without esophageal atresia 10.6
27 acrorenal syndrome 10.4 ZIC3 HOXD13
28 glioma susceptibility 2 10.4 PTEN KLLN
29 renal hypodysplasia/aplasia 1 10.3
30 heart septal defect 10.3
31 ventricular septal defect 10.3
32 polydactyly 10.2
33 scoliosis 10.2
34 melanotic medulloblastoma 10.2 SHH EPPK1
35 renal dysplasia 10.2
36 tibia, hypoplasia or aplasia of, with polydactyly 10.2 SHH HOXD13
37 neural tube defects 10.1
38 mediastinitis 10.1 ZIC3 TEF
39 neurofibromatosis 10.1
40 vesicoureteral reflux 1 10.1
41 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.1
42 deficiency anemia 10.1
43 hypospadias 10.1
44 end stage renal disease 10.1
45 sirenomelia 10.1
46 atresia of urethra 10.1
47 fanconi anemia, complementation group u 10.1 FANCL FANCI FANCB
48 fanconi anemia, complementation group v 10.1 FANCL FANCI FANCB
49 fanconi anemia, complementation group r 10.1 FANCL FANCI FANCB
50 fanconi anemia, complementation group o 10.1 FANCL FANCI FANCB

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:

# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 BAZ1A CHD7 EPPK1 FANCB FANCL FOXL1
2 digestive/alimentary MP:0005381 10.2 BAZ1A CHD7 FOXF1 FOXL1 HOXD13 PCSK5
3 growth/size/body region MP:0005378 10.18 BAZ1A CHD7 FANCB FANCL FOXL1 HOXD13
4 endocrine/exocrine gland MP:0005379 10.14 BAZ1A CHD7 FANCB FANCL FOXL1 HOXD13
5 embryo MP:0005380 10.13 CHD7 FANCL FOXF1 HOXD13 PCSK5 PTEN
6 mortality/aging MP:0010768 10.13 BAZ1A CHD7 FANCI FANCL FOXF1 FOXL1
7 limbs/digits/tail MP:0005371 9.92 CHD7 HOXD13 PCSK5 PTEN PTF1A SALL1
8 reproductive system MP:0005389 9.81 BAZ1A CHD7 FANCB FANCL HOXD13 LPP
9 respiratory system MP:0005388 9.5 CHD7 FOXF1 PCSK5 PTEN PTF1A SHH
10 skeleton MP:0005390 9.28 CHD7 FANCL HOXD13 PCSK5 PTEN PTF1A

Drugs & Therapeutics for Vacterl Association

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

# Name Status Phase Clinical Trials Cas Number PubChem Id
Nicotinamide Approved, Investigational 98-92-0 936
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
3 Vitamin B3
4 Nicotinic Acids

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Clinical and Genetic Studies of VACTERL Association Completed NCT00766571
2 Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations 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

Anatomical Context for Vacterl Association

MalaCards organs/tissues related to Vacterl Association:

Kidney, Heart, Bone, Trachea, Spinal Cord, Lung, Pancreas

Publications for Vacterl Association

Articles related to Vacterl Association:

(show top 50) (show all 536)
# Title Authors PMID Year
Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child. 61
32382369 2020
Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study. 61
32250545 2020
Nationwide analysis of mortality and hospital readmissions in esophageal atresia. 61
32061361 2020
Maternal risk factors for the VACTERL association: A EUROCAT case-control study. 61
32319733 2020
Children and adolescents with VACTERL association: health-related quality of life and psychological well-being in children and adolescents and their parents. 61
31741214 2020
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies. 61
32359821 2020
Predictors of Mortality after Primary Discharge from Hospital in Patients with Esophageal Atresia. 61
31952847 2020
Attention difficulties and physical dysfunction common in children with complex congenital malformations: a study of preschool children with VACTERL association. 61
30187514 2020
Spinal dysraphism as a new entity in V.A.C.TE.R.L syndrome, resulting in a novel acronym V.A.C.TE.R.L.S. 61
32055959 2020
Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly. 61
31720744 2020
Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula. 61
31436871 2019
[Foreign body ingestion in children]. 61
31750640 2019
VACTERL Association in a Female Pig (Sus scrofa domesticus). 61
31812176 2019
Linear IgA Bullous Dermatosis: A Series of 17 Cases. 61
31014539 2019
VACTERL association complicated with multiple airway abnormalities: A case report. 61
31626096 2019
The DATE Association: A Separate Entity or a Further Extension of the VACTERL Association? 61
31022678 2019
Imperforate anus associated with anomalous pulmonary venous return in scimitar syndrome. Case report from a tertiary hospital in Ethiopia. 61
31455287 2019
Crohn's disease in a girl with VACTERL association: Can mitochondrial dysfunction coexist? 61
30455041 2019
The VACTERL association: mosaic mitotic aneuploidy as a cause and a model. 61
31129863 2019
Closer location of the tracheoesophageal fistula to the carina in newborns with esophageal atresia and VACTERL association. 61
30503021 2019
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. 61
30887706 2019
Congenital Esophageal Atresia-Surgical Treatment Results in the Context of Quality of Life. 61
29635651 2019
Neonatal factors predictive for respiratory and gastro-intestinal morbidity after esophageal atresia repair. 61
30146459 2019
Unicornuate uterus with a rudimentary non-communicating cavitary horn in association with VACTERL association: case report. 61
31146728 2019
Oesophageal atresia. 61
31000707 2019
Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice. 61
30380057 2019
Outcomes of kidney transplants in pediatric patients with the vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities association. 61
30597716 2019
VACTERL Association with Situs Inversus Totalis: A Unique Combination. 61
31470372 2019
Urethral duplication in a child with VATER association. 61
30534525 2019
Generic Health-Related Quality of Life after Repair of Esophageal Atresia and Its Determinants within a German-Swedish Cohort. 61
30261518 2019
Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association. 61
31341693 2019
From crisis to self-confidence and adaptation; Experiences of being a parent of a child with VACTERL association - A complex congenital malformation. 61
31002700 2019
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence? 61
31315107 2019
The etiology of VACTERL association: Current knowledge and hypotheses. 61
30580478 2018
Congenital Great Toe Hypoplasia Equivalent to a Grade 3 Hypoplastic Thumb in a Patient with VACTERL Association. 61
30428812 2018
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. 61
30407282 2018
Factors Associated with Recurrence of Tracheoesophageal Fistula. 61
30430797 2018
VACTERL association - Ultrasound findings and autopsy correlation. 61
30662209 2018
A case report of intrahepatic bile duct confluence anomalies in VACTERL syndrome. 61
30278516 2018
Phenotypic diversity of patients diagnosed with VACTERL association. 61
30152190 2018
Sirenomelia with VACTERL association-a rare anomaly. 61
29031871 2018
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. 61
29261186 2018
A pulmonary artery sling with a vascular ring in a toddler: an uncommon combination. 61
29490714 2018
A vascular anomaly of the iliac artery in a patient with VATER association. 61
29636942 2018
[Neuraxial analgesia in a parturient with the VACTERL association undergoing labor and vaginal delivery]. 61
28081906 2018
Basic Knowledge of Tracheoesophageal Fistula and Esophageal Atresia. 61
29373345 2018
Congenital Malformations Resembling VACTERL Association in a Golden Retriever. 61
29131674 2018
Etiological heterogeneity and clinical variability in newborns with esophageal atresia. 61
29373986 2018
Young children with severe congenital malformations (VACTERL) expressed mixed feelings about their condition and worries about needles and anaesthesia. 61
28672091 2017
Severe unicuspid aortic valve stenosis: VACTERL association. 61
28942414 2017

Variations for Vacterl Association

ClinVar genetic disease variations for Vacterl Association:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HOXD13 NM_000523.4(HOXD13):c.164_184del (p.Gly55_Ala61del)deletion Uncertain significance 14877 rs587776824 2:176957781-176957801 2:176093053-176093073

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 11.26 SHH PTF1A FOXF1

GO Terms for Vacterl Association

Cellular components related to Vacterl Association according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.85 ZIC3 TRAP1 SALL1 PTEN KLLN HOXD13
2 nucleus GO:0005634 9.5 ZIC3 TEF SALL1 PTF1A PTEN LPP
3 Fanconi anaemia nuclear complex GO:0043240 8.96 FANCL FANCB

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.16 TEF SHH SALL1 PTF1A HOXD13 FOXL1
2 positive regulation of transcription, DNA-templated GO:0045893 10.02 ZIC3 SHH SALL1 PTF1A FOXF1
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 ZIC3 TEF SHH SALL1 PTF1A HOXD13
4 kidney development GO:0001822 9.8 SHH SALL1 PCSK5
5 central nervous system development GO:0007417 9.8 ZIC3 SHH PTEN CHD7
6 lung development GO:0030324 9.77 ZIC3 SHH FOXF1
7 anterior/posterior pattern specification GO:0009952 9.73 ZIC3 SHH PCSK5 HOXD13
8 embryonic digit morphogenesis GO:0042733 9.72 SHH SALL1 HOXD13
9 pattern specification process GO:0007389 9.71 ZIC3 SHH HOXD13
10 interstrand cross-link repair GO:0036297 9.7 FANCL FANCI FANCB
11 limb development GO:0060173 9.69 SHH SALL1 CHD7
12 lung morphogenesis GO:0060425 9.64 SHH FOXF1
13 hindbrain development GO:0030902 9.63 SHH PTF1A
14 intermediate filament organization GO:0045109 9.62 SHH EPPK1
15 male genitalia development GO:0030539 9.61 SHH HOXD13
16 embryonic digestive tract morphogenesis GO:0048557 9.61 SHH FOXF1
17 epithelial tube branching involved in lung morphogenesis GO:0060441 9.6 SHH FOXF1
18 prostate gland development GO:0030850 9.58 SHH HOXD13
19 embryonic foregut morphogenesis GO:0048617 9.58 SHH FOXF1
20 pancreas development GO:0031016 9.58 SHH PTF1A FOXF1
21 lung lobe morphogenesis GO:0060463 9.57 SHH FOXF1
22 trachea development GO:0060438 9.48 SHH FOXF1
23 olfactory nerve development GO:0021553 9.46 SALL1 CHD7
24 determination of left/right symmetry GO:0007368 9.46 ZIC3 SHH PCSK5 FOXF1
25 embryonic digestive tract development GO:0048566 9.43 SALL1 PCSK5 FOXF1
26 heart development GO:0007507 9.43 SHH SALL1 PTEN PCSK5 FOXL1 FOXF1
27 negative regulation of keratinocyte migration GO:0051548 9.32 PTEN EPPK1
28 respiratory tube development GO:0030323 8.8 SHH PCSK5 FOXF1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.8 ZIC3 TEF SALL1 HOXD13 FOXL1 FOXF1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 ZIC3 TEF PTF1A HOXD13 FOXL1 FOXF1
3 sequence-specific DNA binding GO:0043565 9.63 ZIC3 TEF PTF1A HOXD13 FOXL1 FOXF1
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.43 ZIC3 SALL1 PTF1A HOXD13 FOXF1 CHD7
5 DNA binding GO:0003677 9.32 ZIC3 TEF SALL1 PTF1A KLLN HOXD13

Sources for Vacterl Association

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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