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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Vater/vacterl Association:

Name: Vater/vacterl Association 52
Vacterl Association 11 48 24 25 54 70 27 12 13 68
Vater Association 11 48 24 25 54 39 68 27
Vacterl/vater Association 11 54
Vater Syndrome 11
Vacterl 70


Orphanet epidemiological data:

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


vater/vacterl association:
Inheritance: sporadic


External Ids:

OMIM52 192350
Disease Ontology11 DOID:14679
ICD1030 Q87.2
MeSH39 C536534
Orphanet54 ORPHA887
SNOMED-CT62 205830006, 27742002
MESH via Orphanet40 C536495, C536534
ICD10 via Orphanet31 Q87.2
UMLS via Orphanet69 C0220708, C1735591

Summaries for Vater/vacterl Association

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NIH Rare Diseases:48 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. Last updated: 1/26/2017

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

UniProtKB/Swiss-Prot:70 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: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.

OMIM:52 VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A),... (192350) more...

Wikipedia:71 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 & Phenotypes 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:

 64 54 (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polyhydramnios64 54 hallmark (90%) Very frequent (99-80%) HP:0001561
2 premature birth64 54 hallmark (90%) Very frequent (99-80%) HP:0001622
3 tracheoesophageal fistula64 54 hallmark (90%) Frequent (79-30%) HP:0002575
4 tracheal stenosis64 54 hallmark (90%) Very frequent (99-80%) HP:0002777
5 aplasia/hypoplasia of the lungs64 54 hallmark (90%) Very frequent (99-80%) HP:0006703
6 urogenital fistula64 hallmark (90%) HP:0100589
7 congenital diaphragmatic hernia64 54 typical (50%) Frequent (79-30%) HP:0000776
8 laryngomalacia64 54 typical (50%) Frequent (79-30%) HP:0001601
9 abnormality of the cardiac septa64 54 typical (50%) Frequent (79-30%) HP:0001671
10 vertebral segmentation defect64 54 typical (50%) Frequent (79-30%) HP:0003422
11 aplasia/hypoplasia of the radius64 54 typical (50%) Frequent (79-30%) HP:0006501
12 renal hypoplasia/aplasia64 typical (50%) HP:0008678
13 abnormal localization of kidney64 typical (50%) HP:0100542
14 multicystic kidney dysplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0000003
15 abnormality of female internal genitalia64 54 occasional (7.5%) Occasional (29-5%) HP:0000008
16 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
17 bifid scrotum64 54 occasional (7.5%) Occasional (29-5%) HP:0000048
18 ambiguous genitalia64 54 occasional (7.5%) Occasional (29-5%) HP:0000062
19 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
20 abnormality of the fontanelles or cranial sutures64 occasional (7.5%) HP:0000235
21 low-set, posteriorly rotated ears64 54 occasional (7.5%) Occasional (29-5%) HP:0000368
22 abnormality of the ribs64 54 occasional (7.5%) Occasional (29-5%) HP:0000772
23 cavernous hemangioma64 54 occasional (7.5%) Occasional (29-5%) HP:0001048
24 preaxial hand polydactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001177
25 single umbilical artery64 54 occasional (7.5%) Occasional (29-5%) HP:0001195
26 intrauterine growth retardation64 54 occasional (7.5%) Occasional (29-5%) HP:0001511
27 omphalocele64 54 occasional (7.5%) Occasional (29-5%) HP:0001539
28 abnormality of the pancreas64 54 occasional (7.5%) Occasional (29-5%) HP:0001732
29 encephalocele64 occasional (7.5%) HP:0002084
30 anencephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0002323
31 abnormality of the sacrum64 54 occasional (7.5%) Occasional (29-5%) HP:0005107
32 abnormality of the intervertebral disk64 54 occasional (7.5%) Occasional (29-5%) HP:0005108
33 abnormality of the gallbladder64 54 occasional (7.5%) Occasional (29-5%) HP:0005264
34 finger syndactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0006101
35 hypoplasia of penis64 54 occasional (7.5%) Occasional (29-5%) HP:0008736
36 non-midline cleft lip64 54 occasional (7.5%) Occasional (29-5%) HP:0100335
37 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
38 hypospadias64 54 Occasional (29-5%) HP:0000047
39 ureteropelvic junction obstruction64 HP:0000074
40 vesicoureteral reflux64 HP:0000076
41 ectopic kidney64 54 Frequent (79-30%) HP:0000086
42 renal agenesis64 54 Frequent (79-30%) HP:0000104
43 renal dysplasia64 HP:0000110
44 hydronephrosis64 54 Occasional (29-5%) HP:0000126
45 large fontanelles64 54 Occasional (29-5%) HP:0000239
46 choanal atresia64 HP:0000453
47 abnormality of the sternum64 HP:0000766
48 syndactyly64 HP:0001159
49 triphalangeal thumb64 HP:0001199
50 failure to thrive64 HP:0001508
51 laryngeal stenosis64 HP:0001602
52 ventricular septal defect64 HP:0001629
53 tetralogy of fallot64 HP:0001636
54 patent ductus arteriosus64 HP:0001643
55 transposition of the great arteries64 HP:0001669
56 abnormality of the nasopharynx64 HP:0001739
57 anal atresia64 54 Very frequent (99-80%) HP:0002023
58 esophageal atresia64 HP:0002032
59 occipital encephalocele64 54 Occasional (29-5%) HP:0002085
60 tethered cord64 HP:0002144
61 spina bifida64 HP:0002414
62 scoliosis64 HP:0002650
63 radioulnar synostosis64 HP:0002974
64 hypoplasia of the radius64 HP:0002984
65 absent radius64 HP:0003974
66 postnatal growth retardation64 HP:0008897
67 short thumb64 HP:0009778
68 patent urachus64 HP:0010479
69 abnormality of the urethra54 Occasional (29-5%)
70 malformation of the heart and great vessels54 Frequent (79-30%)
71 anorectal anomaly54 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

MGI Mouse Phenotypes related to Vater/vacterl Association according to GeneCards Suite gene sharing:

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

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 Association27
2 Vater Association27 24

Anatomical Context for Vater/vacterl Association

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MalaCards organs/tissues related to Vater/vacterl Association:

Kidney, Pancreas, Lung, Heart, Trachea

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 digit morphogenesisGO:004273310.4HOXD13, SHH
2embryonic limb morphogenesisGO:003032610.4HOXD13, SHH
3male genitalia developmentGO:003053910.4HOXD13, SHH
4embryonic digestive tract morphogenesisGO:004855710.4FOXF1, SHH
5embryonic foregut morphogenesisGO:004861710.4FOXF1, SHH
6epithelial tube branching involved in lung morphogenesisGO:006044110.4FOXF1, SHH
7lung lobe morphogenesisGO:006046310.4FOXF1, SHH
8lung morphogenesisGO:006042510.4FOXF1, SHH
9positive regulation of mesenchymal cell proliferationGO:000205310.4FOXF1, SHH
10cell fate commitmentGO:004516510.3PTF1A, SHH
11embryo developmentGO:000979010.3PTF1A, SHH
12hindbrain developmentGO:003090210.3PTF1A, SHH
13neuron fate commitmentGO:004866310.3PTF1A, SHH
14renal system developmentGO:007200110.3FOXF1, SHH
15respiratory tube developmentGO:003032310.3FOXF1, SHH
16smoothened signaling pathwayGO:000722410.3FOXF1, SHH
17trachea developmentGO:006043810.3FOXF1, SHH
18heart loopingGO:000194710.3SHH, ZIC3
19pancreas developmentGO:003101610.0FOXF1, PTF1A, SHH
20anterior/posterior pattern specificationGO:00099529.9HOXD13, SHH, ZIC3
21pattern specification processGO:00073899.9HOXD13, SHH, ZIC3
22determination of left/right symmetryGO:00073689.9FOXF1, SHH, ZIC3
23lung developmentGO:00303249.9FOXF1, SHH, ZIC3
24vasculogenesisGO:00015709.6FOXF1, SHH
25positive regulation of transcription, DNA-templatedGO:00458939.4FOXF1, PTF1A, SHH, ZIC3
26transcription from RNA polymerase II promoterGO:00063669.4FOXF1, HOXD13, PTF1A, ZIC3
27positive regulation of transcription from RNA polymerase II promoterGO:00459449.1FOXF1, 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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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet