Vacterl Association

Categories: Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Vacterl Association

MalaCards integrated aliases for Vacterl Association:

Name: Vacterl Association 12 73 20 43 29 6 15 70
Vater Association 20 43 29 6 44 70
Vater Syndrome 12


External Ids:

Disease Ontology 12 DOID:14679
MeSH 44 C536534
SNOMED-CT 67 205830006
ICD10 32 Q87.2
UMLS 70 C0220708 C1735591

Summaries for Vacterl Association

MedlinePlus Genetics : 43 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 with hydrocephaly, x-linked and vacterl association, x-linked, with or without hydrocephalus. An important gene associated with Vacterl Association is FANCL (FA Complementation Group L), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways 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, trachea and spinal cord, and related phenotypes are cellular and endocrine/exocrine gland

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.

GARD : 20 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 : 73 The VACTERL association (also VATER association, and less accurately 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 242)
# Related Disease Score Top Affiliating Genes
1 vacterl association with hydrocephaly, x-linked 32.8 ZIC3 FANCL
2 vacterl association, x-linked, with or without hydrocephalus 32.7 ZIC3 TRAP1 LPP FANCL FANCB
3 vacterl association with hydrocephalus 32.7 SALL1 PTEN KLLN FANCB
4 esophageal atresia 31.4 SHH LPP FOXF1 FANCL FANCI FANCB
5 vater/vacterl association 31.2 ZIC3 PTF1A HOXD13 FOXF1 FANCL FAM170A
6 duodenal atresia 30.6 ZIC3 SHH FOXF1
7 renal hypodysplasia/aplasia 1 30.5 ZIC3 SHH SALL1 HOXD13 FOXF1
8 sacral defect with anterior meningocele 30.1 SHH PCSK5 HOXD13
9 townes-brocks syndrome 30.1 ZIC3 SHH SALL1 HOXD13
10 fanconi anemia, complementation group b 30.1 FANCL FANCB
11 vacterl with hydrocephalus 30.0 ZIC3 PTEN FANCL FANCB
12 fanconi anemia, complementation group c 29.8 FANCL FANCI FANCB
13 chromosome 2q35 duplication syndrome 29.7 SHH SALL1 HOXD13
14 currarino syndrome 29.7 SHH PTF1A PCSK5 HOXD13
15 pancreas, annular 29.6 SHH PTF1A MTHFSD FOXF1
16 feingold syndrome 1 29.6 SHH SALL1 MTHFSD FOXF1
17 anus, imperforate 29.5 ZIC3 SHH SALL1 MTHFSD HOXD13 FOXF1
18 microphthalmia, syndromic 3 29.5 SHH MTHFSD FOXF1
19 pallister-hall syndrome 29.2 SHH SALL1 MTHFSD HOXD13 FOXF1
20 vacterl hydrocephaly 11.3
21 fanconi anemia, complementation group a 11.1
22 tracheal agenesis 11.1
23 tracheoesophageal fistula with or without esophageal atresia 10.6
24 heart septal defect 10.4
25 ventricular septal defect 10.3
26 polydactyly 10.3
27 scoliosis 10.3
28 acrorenal syndrome 10.3 ZIC3 HOXD13
29 renal dysplasia 10.3
30 glioma susceptibility 2 10.2 PTEN KLLN
31 neural tube defects 10.2
32 deficiency anemia 10.2
33 syndactyly, type iv 10.2 SHH HOXD13
34 short-rib thoracic dysplasia 10 with or without polydactyly 10.2 ZIC3 TRAP1 LPP
35 tetralogy of fallot 10.1
36 vesicoureteral reflux 1 10.1
37 esophageal atresia/tracheoesophageal fistula 10.1
38 hypospadias 10.1
39 sirenomelia 10.1
40 renal agenesis, bilateral 10.1
41 atresia of urethra 10.1
42 melanotic medulloblastoma 10.1 SHH EPPK1
43 fanconi anemia, complementation group u 10.1 FANCL FANCI FANCB
44 tibia, hypoplasia or aplasia of, with polydactyly 10.1 SHH HOXD13
45 fanconi anemia, complementation group v 10.1 FANCL FANCI FANCB
46 fanconi anemia, complementation group r 10.1 FANCL FANCI FANCB
47 fanconi anemia, complementation group t 10.1 FANCL FANCI FANCB
48 fanconi anemia, complementation group o 10.1 FANCL FANCI FANCB
49 fanconi anemia, complementation group q 10.1 FANCL FANCI FANCB
50 fanconi anemia, complementation group p 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 10.28 BAZ1A EPPK1 FAM170A FANCB FANCL FOXF1
2 endocrine/exocrine gland MP:0005379 10.1 BAZ1A CDH13 FAM170A FANCB FANCL FOXF1
3 digestive/alimentary MP:0005381 10.06 BAZ1A FOXF1 HOXD13 PCSK5 PTEN PTF1A
4 embryo MP:0005380 10.02 FANCL FOXF1 HOXD13 PCSK5 PTEN PTF1A
5 mortality/aging MP:0010768 9.97 BAZ1A CDH13 FANCI FANCL FOXF1 HOXD13
6 limbs/digits/tail MP:0005371 9.8 HOXD13 PCSK5 PTEN PTF1A SALL1 SHH
7 reproductive system MP:0005389 9.65 BAZ1A CDH13 FAM170A FANCB FANCL HOXD13
8 skeleton MP:0005390 9.28 CDH13 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 Nicotinic Acids
4 Vitamin B3

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
2 Vater Association 29

Anatomical Context for Vacterl Association

MalaCards organs/tissues related to Vacterl Association:

Kidney, Trachea, Spinal Cord, Pancreas, Uterus, Eye, Spleen

Publications for Vacterl Association

Articles related to Vacterl Association:

(show top 50) (show all 552)
# Title Authors PMID Year
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. 61 6
25754594 2015
[Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail]. 6
2629409 1989
Prenatal diagnosis of persistent left superior vena cava, polyhydramnios and a small gastric bubble in a fetus with VACTERL association. 61
33678342 2021
Neonatal Respiratory Distress and Airway Emergency: Report of Two Cases. 61
33805876 2021
Accompanied anomalies in anal atresia or tracheo-esophageal fistula: Comparison with or without VACTERL association. 61
33616304 2021
The Classification of VACTERL Association into 3 Groups According to the Limb Defect. 61
33680640 2021
Successful thoracoscopic treatment for tracheoesophageal fistula and esophageal atresia of communicating bronchopulmonary foregut malformation group IB with dextrocardia: a case report of VACTERL association. 61
33409676 2021
Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures. 61
33522143 2021
Multidisciplinary approach to paediatric aerodigestive disorders: A single-centre longitudinal observational study. 61
32886957 2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. 61
33276377 2020
Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association. 61
33505230 2020
Maternal risk associated with the VACTERL association: A case-control study. 61
33179873 2020
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies. 61
32359821 2020
Adolescent With VACTERL Association Presents With Recurrent Pneumonia. 61
33062488 2020
Tethered Cord Syndrome in the United States Cluster Analysis of Presenting Anomalies and Associated. 61
32857021 2020
Management of Tracheoesophageal Fistula Repair With Cardiac Dextroposition and Right Lung Agenesis: A Case Report. 61
32633924 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
Five-year experience of anorectal malformation with oesophageal atresia in tertiary care hospital. 61
33342833 2020
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
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
Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly. 61
31720744 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. 61
32656166 2020
VACTERL Association in a Female Pig (Sus scrofa domesticus). 61
31812176 2019
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
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
The VACTERL association: mosaic mitotic aneuploidy as a cause and a model. 61
31129863 2019
Crohn's disease in a girl with VACTERL association: Can mitochondrial dysfunction coexist? 61
30455041 2019
Imperforate anus associated with anomalous pulmonary venous return in scimitar syndrome. Case report from a tertiary hospital in Ethiopia. 61
31455287 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
Urethral duplication in a child with VATER association. 61
30534525 2019
VACTERL Association with Situs Inversus Totalis: A Unique Combination. 61
31470372 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
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
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence? 61
31315107 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

Variations for Vacterl Association

ClinVar genetic disease variations for Vacterl Association:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FANCL NM_001114636.1(FANCL):c.268del (p.Leu90fs) Deletion Pathogenic 209076 rs869320684 GRCh37: 2:58453868-58453868
GRCh38: 2:58226733-58226733
2 overlap with 15 genes GRCh37/hg19 17q12(chr17:34815551-36208392)x1 copy number loss Pathogenic 393547 GRCh37: 17:34815551-36208392
3 CDH13 GRCh37/hg19 16q23.3(chr16:83414018-83518410)x1 copy number loss Likely pathogenic 393545 GRCh37: 16:83414018-83518410
4 FAM170A GRCh37/hg19 5q23.1(chr5:118890915-119082631)x1 copy number loss Likely pathogenic 393534 GRCh37: 5:118890915-119082631
5 overlap with 2 genes GRCh37/hg19 10q11.21(chr10:43796180-44037408)x3 copy number gain Likely pathogenic 393538 GRCh37: 10:43796180-44037408
6 FOXF1 NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys) SNV Likely pathogenic 190130 rs752504125 GRCh37: 16:86544833-86544833
GRCh38: 16:86511227-86511227
7 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 copy number loss Likely pathogenic 393549 GRCh37: 22:18915347-21463730
8 NOTCH2 NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) SNV Uncertain significance 596711 rs377058108 GRCh37: 1:120478194-120478194
GRCh38: 1:119935571-119935571
9 HOXD13 NM_000523.4(HOXD13):c.164_184del (p.Gly55_Ala61del) Deletion Uncertain significance 14877 rs587776824 GRCh37: 2:176957781-176957801
GRCh38: 2:176093053-176093073
10 overlap with 2 genes GRCh37/hg19 12q23.1(chr12:100367541-100489446)x1 copy number loss Likely benign 393540 GRCh37: 12:100367541-100489446
11 overlap with 3 genes GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3 copy number gain Likely benign 393531 GRCh37: 2:132140614-132312325
12 AGMO GRCh37/hg19 7p21.2(chr7:15424383-15534832)x3 copy number gain Likely benign 393535 GRCh37: 7:15424383-15534832
13 overlap with 2 genes GRCh37/hg19 13q14.11(chr13:43505151-43762719)x3 copy number gain Likely benign 393541 GRCh37: 13:43505151-43762719
14 SORCS1 GRCh37/hg19 10q25.1(chr10:107722094-109081424)x3 copy number gain Likely benign 393539 GRCh37: 10:107722094-109081424
15 overlap with 4 genes GRCh37/hg19 17p13.3(chr17:1007540-1254875)x3 copy number gain Likely benign 393546 GRCh37: 17:1007540-1254875
16 overlap with 2 genes GRCh37/hg19 9q22.32(chr9:97290466-97419146)x1 copy number loss Likely benign 393537 GRCh37: 9:97290466-97419146
17 NALCN GRCh37/hg19 13q32.3-33.1(chr13:101605129-101748121)x1 copy number loss Likely benign 393543 GRCh37: 13:101605129-101748121
18 PARM1 GRCh37/hg19 4q13.3(chr4:75720151-75883784)x1 copy number loss Likely benign 393532 GRCh37: 4:75720151-75883784
19 overlap with 8 genes GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1 copy number loss Likely benign 393544 GRCh37: 15:84931022-85728834
20 SMYD3 GRCh37/hg19 1q44(chr1:245900039-246475061)x1 copy number loss Likely benign 393530 GRCh37: 1:245900039-246475061
21 GPC5 GRCh37/hg19 13q31.3(chr13:93377562-93606814)x1 copy number loss Likely benign 393542 GRCh37: 13:93377562-93606814
22 overlap with 3 genes GRCh37/hg19 17q25.3(chr17:80881583-81060040)x3 copy number gain Likely benign 393548 GRCh37: 17:80881583-81060040
23 NREP GRCh37/hg19 5q22.1(chr5:111241351-111390356)x1 copy number loss Likely benign 393533 GRCh37: 5:111241351-111390356
24 CNTNAP2 GRCh37/hg19 7q35(chr7:147516080-147803861)x1 copy number loss Likely benign 393536 GRCh37: 7:147516080-147803861

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 Fanconi anaemia nuclear complex GO:0043240 8.62 FANCL FANCB

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 ZIC3 SHH SALL1 PTF1A HOXD13 FOXF1
2 positive regulation of transcription, DNA-templated GO:0045893 9.99 ZIC3 SHH SALL1 PTF1A FOXF1 FAM170A
3 kidney development GO:0001822 9.8 SHH SALL1 PCSK5
4 lung development GO:0030324 9.74 ZIC3 SHH FOXF1
5 anterior/posterior pattern specification GO:0009952 9.71 ZIC3 SHH PCSK5 HOXD13
6 pattern specification process GO:0007389 9.67 ZIC3 SHH HOXD13
7 embryonic digit morphogenesis GO:0042733 9.65 SHH SALL1 HOXD13
8 heart development GO:0007507 9.65 SHH SALL1 PTEN PCSK5 FOXF1
9 limb morphogenesis GO:0035108 9.63 PCSK5 HOXD13
10 interstrand cross-link repair GO:0036297 9.63 FANCL FANCI FANCB
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.62 SHH FOXF1
12 lung morphogenesis GO:0060425 9.61 SHH FOXF1
13 intermediate filament organization GO:0045109 9.61 SHH EPPK1
14 hindbrain development GO:0030902 9.6 SHH PTF1A
15 epithelial tube branching involved in lung morphogenesis GO:0060441 9.59 SHH FOXF1
16 male genitalia development GO:0030539 9.58 SHH HOXD13
17 embryonic digestive tract morphogenesis GO:0048557 9.58 SHH FOXF1
18 prostate gland development GO:0030850 9.56 SHH HOXD13
19 embryonic foregut morphogenesis GO:0048617 9.55 SHH FOXF1
20 pancreas development GO:0031016 9.54 SHH PTF1A FOXF1
21 lung lobe morphogenesis GO:0060463 9.52 SHH FOXF1
22 determination of left/right symmetry GO:0007368 9.46 ZIC3 SHH PCSK5 FOXF1
23 trachea development GO:0060438 9.43 SHH FOXF1
24 negative regulation of keratinocyte migration GO:0051548 9.32 PTEN EPPK1
25 embryonic digestive tract development GO:0048566 9.13 SALL1 PCSK5 FOXF1
26 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 GO:0003677 9.23 ZIC3 SALL1 PTF1A KLLN HOXD13 FOXF1

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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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