MCID: VCT001
MIFTS: 51

Vacterl Association malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Vacterl Association

About this section
Sources:
10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 36MeSH, 27ICD10, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all MalaCards sources

Aliases & Descriptions for Vacterl Association:

Name: Vacterl Association 10 11 45 22 23 12 51 67 24 65
Vater Association 10 45 22 23 51 36 65 24
Vacterl/vater Association 10 51
 
Vater Syndrome 10
Vacterl 67

Characteristics:

Orphanet epidemiological data:

51
vacterl association:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:14679
ICD1027 Q87.2
MeSH36 C536534
Orphanet51 887
SNOMED-CT59 205830006, 27742002
ICD10 via Orphanet28 Q87.2
MESH via Orphanet37 C536495, C536534
UMLS via Orphanet66 C0220708, C1735591
UMLS65 C0220708, C1735591

Summaries for Vacterl Association

About this section
NIH Rare Diseases:45 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. last updated: 7/6/2015

MalaCards based summary: Vacterl Association, also known as vater association, is related to vacterl association, x-linked and vacterl association with hydrocephaly, x-linked, and has symptoms including tracheo-esophageal fistula/esophageal atresia/stenosis, imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula and tracheal atresia/stenosis. An important gene associated with Vacterl Association is HOXD13 (Homeobox D13), and among its related pathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, heart and breast, and related mouse phenotypes are embryo and limbs/digits/tail.

Disease Ontology:10 "A syndrome that is characterized by the presence of at least three of the following

UniProtKB/Swiss-Prot:67 VACTERL association: VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.

Genetics Home Reference:23 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:68 The VACTERL association (also VATER association) refers to the non-random co-occurrence of birth defects... more...

Related Diseases for Vacterl Association

About this section

Diseases related to Vacterl Association via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1vacterl association, x-linked12.3
2vacterl association with hydrocephaly, x-linked12.1
3vater association with macrocephaly and ventriculomegaly11.7
4vacterl hydrocephaly11.2
5vacterl with hydrocephalus, fancb-related11.0
6tracheal agenesis10.4
7middle lobe syndrome10.1FOXF1, SHH
8esophagitis10.1
9esophageal atresia10.0
10hydrocephalus9.9
11tryptophan hydroxylase deficiency9.9HOXD13, SHH
12tracheoesophageal fistula symphalangism9.8HOXD13, SHH, ZIC3
13urethritis9.8
14annular pancreas9.8
15sirenomelia9.8
16tracheoesophageal fistula9.8
17neural tube defects9.7
18prune belly syndrome9.7
19biotinidase deficiency9.7
20tetralogy of fallot9.7
21baller-gerold syndrome9.7
22hemifacial microsomia9.7
23moyamoya disease9.7
24lipoma9.7
25arteriovenous fistula9.7
26scoliosis9.7
27imperforate anus9.7
28polydactyly9.7
29arachnoiditis9.7
30pancytopenia9.7
31duane retraction syndrome9.7
32laryngitis9.7
33congenital diaphragmatic hernia9.7
34urinary tract obstruction9.7
35kidney disease9.7
36duodenitis9.7
37esophageal atresia/tracheoesophageal fistula9.7
38aberrant subclavian artery9.7
39arachnoid cysts9.7
40duodenal atresia9.7
41fibromuscular dysplasia9.7
42heterotaxy9.7
43mayer-rokitansky-kuster-hauser syndrome9.7
44murcs association9.7
45pulmonary sequestration9.7
46congenital microgastria9.7
47amelia of upper limb9.7
48intestinal atresia9.5FOXF1, LPP, SHH
49labyrinthitis6.7EPPK1, FOXF1, HOXD13, LPP, PCSK5, PTF1A

Graphical network of the top 20 diseases related to Vacterl Association:



Diseases related to vacterl association

Symptoms for Vacterl Association

About this section

Symptoms:

 51 (show all 42)
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • tracheal atresia/stenosis
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • stillbirth/neonatal death
  • polyhydramnios
  • prematurity
  • vertebral segmentation anomaly/hemivertebrae
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • laryngomalacia
  • diaphragmatic hernia/defect/agenesis
  • congenital cardiac anomaly/malformation/cardiopathy
  • cardiac septal defect
  • agenesis/hypoplasia/aplasia of kidneys
  • ectopic/horseshoe/fused kidneys
  • large fontanelle/delayed fontanelle closure
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • anomalies of the ribs
  • intervertebral disk anomaly
  • sacro-coccyx/sacrum anomaly
  • omphalocele/exomphalos
  • syndactyly of fingers/interdigital palm
  • preaxial polydactyly (hand)
  • cavernous/tuberous hemangioma
  • anus/rectum anomalies
  • gallbladder/common bile duct anomalies
  • structural anomalies of the pancreas
  • single umbilical artery
  • multicystic kidney/renal dysplasia
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • ambiguous genitalia
  • uterine/uterus/fallopian tubes anomalies
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • bifid scrotum
  • anencephaly/acrania
  • encephalocele/exencephaly
  • intrauterine growth retardation

UMLS symptoms related to Vacterl Association:


pseudothrombophlebitis, musculoskeletal stiffness, extremity contracture, trendelenburg's symptom, chest wall necrosis, vascular pain, musculoskeletal and connective tissue signs and symptoms nec, mass of lower limb, mass of upper limb, cardiovascular symptoms

Drugs & Therapeutics for Vacterl Association

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical and Genetic Studies of VACTERL AssociationCompletedNCT00766571

Search NIH Clinical Center for Vacterl Association


Cochrane evidence based reviews: vater association

Genetic Tests for Vacterl Association

About this section

Genetic tests related to Vacterl Association:

id Genetic test Affiliating Genes
1 Vater Association22

Anatomical Context for Vacterl Association

About this section

MalaCards organs/tissues related to Vacterl Association:

33
Kidney, Heart, Breast, Testes, Pancreas, Lung, Prostate

Animal Models for Vacterl Association or affiliated genes

About this section

MGI Mouse Phenotypes related to Vacterl Association:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.9FOXF1, HOXD13, PTF1A, SHH, ZIC3
2MP:00053718.7HOXD13, PCSK5, PTF1A, SHH, ZIC3
3MP:00053828.7PCSK5, PTF1A, SHH, ZIC3
4MP:00053888.6FOXF1, PCSK5, PTF1A, SHH, ZIC3
5MP:00053908.5HOXD13, PCSK5, PTF1A, SHH, ZIC3
6MP:00053798.3HOXD13, PCSK5, PTF1A, SHH, TRAP1
7MP:00053818.2FOXF1, HOXD13, PCSK5, PTF1A, SHH, ZIC3
8MP:00107687.1FOXF1, HOXD13, LPP, PCSK5, PTF1A, SHH
9MP:00053846.9EPPK1, LPP, PCSK5, PTF1A, SHH, TRAP1

Publications for Vacterl Association

About this section

Articles related to Vacterl Association:

(show top 50)    (show all 148)
idTitleAuthorsYear
1
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. (27084730)
2016
2
VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. (25988067)
2015
3
Kidney transplantation in an adult patient with VACTERL association. (26106170)
2015
4
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. (25754594)
2015
5
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. (25059024)
2014
6
Scimitar syndrome in a case with VACTERL association. (24905790)
2014
7
A case of VACTERL and non-VACTERL association without the "V and L". (24591785)
2014
8
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association. (24416387)
2014
9
VACTERL association with hydrocephalus in a fetus conceived by inA vitro fertilization and embryo transfer. (24411047)
2013
10
Monochorionic twin fetus with VACTERL association after intracytoplasmic sperm injection. (23751045)
2013
11
Mitochondrial Factors and VACTERL Association-Related Congenital Malformations. (23653577)
2013
12
VACTERL association with double-chambered left ventricle: A rare occurrence. (24688248)
2013
13
Anesthetic management of a parturient with VACTERL association undergoing Cesarean delivery. (23519725)
2013
14
Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: No evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum. (24307608)
2013
15
VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia. (24368291)
2013
16
VATER/VACTERL Association: Evidence for the Role of Genetic Factors. (23653572)
2013
17
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. (22639458)
2012
18
A rare association of fibromuscular dysplasia, renal agenesis, renal arteriovenous fistulae, and vertebral anomalies: expanding the V in VACTERL association. (23023878)
2012
19
De novo microduplication at 22q11.21 in a patient with VACTERL association. (20849991)
2011
20
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association. (21315191)
2011
21
A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH). (22052692)
2011
22
The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population. (21724702)
2011
23
Analysis of component findings in 79 patients diagnosed with VACTERL association. (20683998)
2010
24
Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association. (20676578)
2010
25
Sporadic neonatal Fanconi's anemia with VACTERL association. (20158659)
2010
26
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? (20452998)
2010
27
VACTERL association in a cat. (20186795)
2010
28
Chronic kidney disease in the VACTERL association: clinical course and outcome. (19172300)
2009
29
Bronchial anomalies in VACTERL association. (18671276)
2008
30
Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. (18186125)
2008
31
Monozygotic twins discordant for VACTERL association. (18382992)
2008
32
VACTERL association and maternal diabetes: a possible causal relationship? (18181216)
2008
33
Congenital pulmonary sling, aorto-pulmonary window and pulmonary vein obstruction as a diagnostic and therapeutic challenge in an infant with VACTERL association. (16598388)
2006
34
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. (16299066)
2006
35
The TACRD association is distinct from VACTERL association--a case report. (15471135)
2004
36
Umbilical cord allantoic cysts in a newborn with vacterl association. (15163871)
2004
37
VACTERL association with Prune-Belly syndrome. (15347875)
2004
38
Unusual manifestations of VACTERL association. (12626834)
2003
39
VACTERL association with a cleft hand. (14684968)
2003
40
Prenatal diagnosis of VACTERL association: a case report. (11281494)
2001
41
Patterns of radial dysmorphology with the VACTERL association in the adriamycin-exposed prenatal rat. (11092363)
2000
42
Tibial aplasia--VACTERL association, a new syndrome? (10955482)
2000
43
A patient with VACTERL association, amelia and hemifacial microsomia. (10319203)
1999
44
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. (8741921)
1996
45
VACTERL association, epidemiologic definition and delineation. (8826430)
1996
46
Congenital microgastria in an infant with the VACTERL association. (8331503)
1993
47
VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. (1481853)
1992
48
VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. (2000280)
1991
49
VACTERL-association: an unusual case of fetus detected by ultrasound screening at 19 weeks of gestation. (2226560)
1990
50
A dental and facial anomaly not previously reported with VACTERL association: report of case. (2345216)
1990

Variations for Vacterl Association

About this section

Expression for genes affiliated with Vacterl Association

About this section
Search GEO for disease gene expression data for Vacterl Association.

Pathways for genes affiliated with Vacterl Association

About this section

Pathways related to Vacterl Association according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.2FOXF1, PTF1A, SHH

GO Terms for genes affiliated with Vacterl Association

About this section

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1embryonic digit morphogenesisGO:004273310.3HOXD13, SHH
2lung lobe morphogenesisGO:006046310.3FOXF1, SHH
3trachea developmentGO:006043810.3FOXF1, SHH
4embryonic digestive tract morphogenesisGO:004855710.2FOXF1, SHH
5neuron fate commitmentGO:004866310.2PTF1A, SHH
6respiratory tube developmentGO:003032310.1PCSK5, SHH
7embryonic skeletal system developmentGO:004870610.1PCSK5, SHH
8pattern specification processGO:000738910.1SHH, ZIC3
9smoothened signaling pathwayGO:000722410.1FOXF1, SHH
10cell fate commitmentGO:004516510.0PTF1A, SHH
11vasculogenesisGO:000157010.0FOXF1, SHH
12anterior/posterior pattern specificationGO:00099529.9HOXD13, SHH, ZIC3
13kidney developmentGO:00018229.9PCSK5, SHH
14cell differentiationGO:00301549.7FOXF1, PTF1A, ZIC3
15lung developmentGO:00303249.6FOXF1, SHH
16heart developmentGO:00075079.5FOXF1, PCSK5, SHH
17transcription from RNA polymerase II promoterGO:00063669.3FOXF1, HOXD13, PTF1A
18positive regulation of transcription, DNA-templatedGO:00458939.2FOXF1, PTF1A, SHH, ZIC3
19determination of left/right symmetryGO:00073689.2FOXF1, PCSK5, SHH, ZIC3
20positive regulation of transcription from RNA polymerase II promoterGO:00459448.6FOXF1, HOXD13, PTF1A, SHH, ZIC3

Sources for Vacterl Association

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet