Vater/vacterl Association malady

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

Aliases & Classifications for Vater/vacterl Association

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11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Vater/vacterl Association:

Name: Vater/vacterl Association 51
Vacterl Association 11 47 24 25 53 69 26 12 13 67
Vater Association 11 47 24 25 53 38 67 26
Vacterl/vater Association 11 53
Vater Syndrome 11
Vacterl 69


Orphanet epidemiological data:

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


vater/vacterl association:
Inheritance: sporadic


External Ids:

OMIM51 192350
Disease Ontology11 DOID:14679
ICD1029 Q87.2
MeSH38 C536534
Orphanet53 ORPHA887
SNOMED-CT61 205830006, 27742002
MESH via Orphanet39 C536495, C536534
ICD10 via Orphanet30 Q87.2
UMLS via Orphanet68 C0220708, C1735591

Summaries for Vater/vacterl Association

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OMIM:51 VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A),... (192350) more...

MalaCards based summary: Vater/vacterl Association, also known as vacterl association, is related to imperforate anus and vacterl association, x-linked, and has symptoms including polyhydramnios, premature birth and tracheoesophageal fistula. An important gene associated with Vater/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, pancreas and lung, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Disease Ontology:11 "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.

UniProtKB/Swiss-Prot:69 VACTERL association: VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.

Wikipedia:70 The VACTERL association (also VATER association) refers to the non-random co-occurrence of birth defects... more...

Related Diseases for Vater/vacterl Association

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Graphical network of diseases related to Vater/vacterl Association:

Diseases related to vater/vacterl association

Symptoms for Vater/vacterl Association

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Vater/vacterl Association:

 63 53 (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polyhydramnios63 53 hallmark (90%) Very frequent (99-80%) HP:0001561
2 premature birth63 53 hallmark (90%) Very frequent (99-80%) HP:0001622
3 tracheoesophageal fistula63 53 hallmark (90%) Frequent (79-30%) HP:0002575
4 tracheal stenosis63 53 hallmark (90%) Very frequent (99-80%) HP:0002777
5 aplasia/hypoplasia of the lungs63 53 hallmark (90%) Very frequent (99-80%) HP:0006703
6 urogenital fistula63 hallmark (90%) HP:0100589
7 congenital diaphragmatic hernia63 53 typical (50%) Frequent (79-30%) HP:0000776
8 laryngomalacia63 53 typical (50%) Frequent (79-30%) HP:0001601
9 abnormality of the cardiac septa63 53 typical (50%) Frequent (79-30%) HP:0001671
10 vertebral segmentation defect63 53 typical (50%) Frequent (79-30%) HP:0003422
11 aplasia/hypoplasia of the radius63 53 typical (50%) Frequent (79-30%) HP:0006501
12 renal hypoplasia/aplasia63 typical (50%) HP:0008678
13 abnormal localization of kidney63 typical (50%) HP:0100542
14 multicystic kidney dysplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0000003
15 abnormality of female internal genitalia63 53 occasional (7.5%) Occasional (29-5%) HP:0000008
16 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
17 bifid scrotum63 53 occasional (7.5%) Occasional (29-5%) HP:0000048
18 ambiguous genitalia63 53 occasional (7.5%) Occasional (29-5%) HP:0000062
19 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
20 abnormality of the fontanelles or cranial sutures63 occasional (7.5%) HP:0000235
21 low-set, posteriorly rotated ears63 53 occasional (7.5%) Occasional (29-5%) HP:0000368
22 abnormality of the ribs63 53 occasional (7.5%) Occasional (29-5%) HP:0000772
23 cavernous hemangioma63 53 occasional (7.5%) Occasional (29-5%) HP:0001048
24 preaxial hand polydactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0001177
25 single umbilical artery63 53 occasional (7.5%) Occasional (29-5%) HP:0001195
26 intrauterine growth retardation63 53 occasional (7.5%) Occasional (29-5%) HP:0001511
27 omphalocele63 53 occasional (7.5%) Occasional (29-5%) HP:0001539
28 abnormality of the pancreas63 53 occasional (7.5%) Occasional (29-5%) HP:0001732
29 encephalocele63 occasional (7.5%) HP:0002084
30 anencephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0002323
31 abnormality of the sacrum63 53 occasional (7.5%) Occasional (29-5%) HP:0005107
32 abnormality of the intervertebral disk63 53 occasional (7.5%) Occasional (29-5%) HP:0005108
33 abnormality of the gallbladder63 53 occasional (7.5%) Occasional (29-5%) HP:0005264
34 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
35 hypoplasia of penis63 53 occasional (7.5%) Occasional (29-5%) HP:0008736
36 non-midline cleft lip63 53 occasional (7.5%) Occasional (29-5%) HP:0100335
37 displacement of the external urethral meatus63 occasional (7.5%) HP:0100627
38 hypospadias63 53 Occasional (29-5%) HP:0000047
39 ureteropelvic junction obstruction63 HP:0000074
40 vesicoureteral reflux63 HP:0000076
41 ectopic kidney63 53 Frequent (79-30%) HP:0000086
42 renal agenesis63 53 Frequent (79-30%) HP:0000104
43 renal dysplasia63 HP:0000110
44 hydronephrosis63 53 Occasional (29-5%) HP:0000126
45 large fontanelles63 53 Occasional (29-5%) HP:0000239
46 choanal atresia63 HP:0000453
47 abnormality of the sternum63 HP:0000766
48 syndactyly63 HP:0001159
49 triphalangeal thumb63 HP:0001199
50 failure to thrive63 HP:0001508
51 laryngeal stenosis63 HP:0001602
52 ventricular septal defect63 HP:0001629
53 tetralogy of fallot63 HP:0001636
54 patent ductus arteriosus63 HP:0001643
55 transposition of the great arteries63 HP:0001669
56 abnormality of the nasopharynx63 HP:0001739
57 anal atresia63 53 Very frequent (99-80%) HP:0002023
58 esophageal atresia63 HP:0002032
59 occipital encephalocele63 53 Occasional (29-5%) HP:0002085
60 tethered cord63 HP:0002144
61 spina bifida63 HP:0002414
62 scoliosis63 HP:0002650
63 radioulnar synostosis63 HP:0002974
64 hypoplasia of the radius63 HP:0002984
65 absent radius63 HP:0003974
66 postnatal growth retardation63 HP:0008897
67 short thumb63 HP:0009778
68 patent urachus63 HP:0010479
69 abnormality of the urethra53 Occasional (29-5%)
70 malformation of the heart and great vessels53 Frequent (79-30%)
71 anorectal anomaly53 Occasional (29-5%)

UMLS symptoms related to Vater/vacterl Association:

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

Drugs & Therapeutics for Vater/vacterl Association

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical and Genetic Studies of VACTERL AssociationCompletedNCT00766571

Search NIH Clinical Center for Vater/vacterl Association

Cochrane evidence based reviews: vater association

Genetic Tests for Vater/vacterl Association

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Genetic tests related to Vater/vacterl Association:

id Genetic test Affiliating Genes
1 Vacterl Association26
2 Vater Association26 24

Anatomical Context for Vater/vacterl Association

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MalaCards organs/tissues related to Vater/vacterl Association:

Kidney, Pancreas, Lung, Heart, Trachea

Animal Models for Vater/vacterl Association or affiliated genes

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MGI Mouse Phenotypes related to Vater/vacterl Association:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.6HOXD13, PTF1A, SHH, ZIC3
2MP:00053819.3FOXF1, HOXD13, PTF1A, SHH, ZIC3
3MP:00053809.2FOXF1, HOXD13, PTF1A, SHH, ZIC3
4MP:00053898.8FANCB, HOXD13, LPP, SHH, ZIC3
5MP:00053917.9HOXD13, KIDINS220, PTF1A, SHH, ZIC3
6MP:00107687.8FOXF1, HOXD13, KIDINS220, LPP, PTF1A, SHH
7MP:00053847.6EPPK1, FANCB, KIDINS220, LPP, PTF1A, SHH

Publications for Vater/vacterl Association

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Articles related to Vater/vacterl Association:

(show all 13)
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. (26857713)
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. (26881326)
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. (26294094)
Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse. (25775927)
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. (26072132)
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)
VATER/VACTERL Association: Evidence for the Role of Genetic Factors. (23653572)
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. (23549274)
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)
Familial occurrence of the VATER/VACTERL association. (22422375)
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. (22895008)
Inheritance of the VATER/VACTERL association. (22581124)
VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. (1481853)

Variations for Vater/vacterl Association

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Clinvar genetic disease variations for Vater/vacterl Association:

id Gene Variation Type Significance SNP ID Assembly Location
1FOXF1NM_001451.2(FOXF1): c.658G> T (p.Gly220Cys)SNVLikely pathogenicrs752504125GRCh38Chr 16, 86511227: 86511227

Expression for genes affiliated with Vater/vacterl Association

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Search GEO for disease gene expression data for Vater/vacterl Association.

Pathways for genes affiliated with Vater/vacterl Association

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Pathways related to Vater/vacterl Association according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes

GO Terms for genes affiliated with Vater/vacterl Association

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Biological processes related to Vater/vacterl Association according to GeneCards Suite gene sharing:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1embryonic digestive tract morphogenesisGO:004855710.3FOXF1, SHH
2lung lobe morphogenesisGO:006046310.3FOXF1, SHH
3respiratory tube developmentGO:003032310.3FOXF1, SHH
4lung morphogenesisGO:006042510.2FOXF1, SHH
5trachea developmentGO:006043810.2FOXF1, SHH
6neuron fate commitmentGO:004866310.2PTF1A, SHH
7cell fate commitmentGO:004516510.1PTF1A, SHH
8embryo developmentGO:000979010.1PTF1A, SHH
9embryonic digit morphogenesisGO:004273310.1HOXD13, SHH
10embryonic foregut morphogenesisGO:004861710.1FOXF1, SHH
11positive regulation of mesenchymal cell proliferationGO:000205310.1FOXF1, SHH
12vasculogenesisGO:000157010.1FOXF1, SHH
13renal system developmentGO:007200110.1FOXF1, SHH
14male genitalia developmentGO:003053910.0HOXD13, SHH
15hindbrain developmentGO:003090210.0PTF1A, SHH
16smoothened signaling pathwayGO:000722410.0FOXF1, SHH
17embryonic limb morphogenesisGO:003032610.0HOXD13, SHH
18epithelial tube branching involved in lung morphogenesisGO:00604419.8FOXF1, SHH
19heart loopingGO:00019479.8SHH, ZIC3
20pancreas developmentGO:00310169.7FOXF1, PTF1A, SHH
21anterior/posterior pattern specificationGO:00099529.6HOXD13, SHH, ZIC3
22pattern specification processGO:00073899.6HOXD13, SHH, ZIC3
23lung developmentGO:00303249.5FOXF1, SHH, ZIC3
24transcription from RNA polymerase II promoterGO:00063669.2FOXF1, HOXD13, PTF1A, ZIC3
25determination of left/right symmetryGO:00073689.1FOXF1, SHH, ZIC3
26positive regulation of transcription, DNA-templatedGO:00458939.0FOXF1, PTF1A, SHH, ZIC3
27positive regulation of transcription from RNA polymerase II promoterGO:00459448.4FOXF1, HOXD13, PTF1A, SHH, ZIC3

Molecular functions related to Vater/vacterl Association according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.3HOXD13, PTF1A, ZIC3

Sources for Vater/vacterl Association

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30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet