VACTERL
MCID: VTR016
MIFTS: 46

Vater/vacterl Association (VACTERL) malady

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

Aliases & Classifications for Vater/vacterl Association

Aliases & Descriptions for Vater/vacterl Association:

Name: Vater/vacterl Association 54
Vacterl Association 12 50 24 25 56 66 29 13 14 69
Vater Association 12 50 24 25 56 42 69
Vacterl/vater Association 12 56
Vater Association [dup] 12 29
Vater Syndrome 12
Vacterl 66

Characteristics:

Orphanet epidemiological data:

56
vacterl/vater association
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal;

HPO:

32
vater/vacterl association:
Inheritance sporadic


Classifications:



External Ids:

OMIM 54 192350
Disease Ontology 12 DOID:14679
ICD10 33 Q87.2
MeSH 42 C536534
SNOMED-CT 64 205830006 27742002
Orphanet 56 ORPHA887
MESH via Orphanet 43 C536495 C536534
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 70 C0220708 C1735591
UMLS 69 C0220708

Summaries for Vater/vacterl Association

NIH Rare Diseases : 50 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 vacterl association, x-linked and vacterl association with hydrocephaly, x-linked, and has symptoms including finger syndactyly, laryngomalacia and abnormality of the gallbladder. An important gene associated with Vater/vacterl Association is HOXD13 (Homeobox D13), and among its related pathways/superpathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, heart and pancreas, and related phenotypes are cellular and digestive/alimentary

UniProtKB/Swiss-Prot : 66 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 : 54 VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A),... (192350) more...

Disease Ontology : 12 A syndrome that is characterized by the presence of at least three of the following

Wikipedia : 71 The VACTERL association (also VATER association) refers to a recognized group of birth defects which... more...

Related Diseases for Vater/vacterl Association

Graphical network of the top 20 diseases related to Vater/vacterl Association:



Diseases related to Vater/vacterl Association

Symptoms & Phenotypes for Vater/vacterl Association

Symptoms by clinical synopsis from OMIM:

192350

Clinical features from OMIM:

192350

Human phenotypes related to Vater/vacterl Association:

56 32 (show top 50) (show all 67)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
2 laryngomalacia 56 32 Frequent (79-30%) HP:0001601
3 abnormality of the gallbladder 56 32 Occasional (29-5%) HP:0005264
4 cleft palate 56 32 Occasional (29-5%) HP:0000175
5 ectopic kidney 56 32 Frequent (79-30%) HP:0000086
6 cavernous hemangioma 56 32 Occasional (29-5%) HP:0001048
7 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
8 non-midline cleft lip 56 32 Occasional (29-5%) HP:0100335
9 intrauterine growth retardation 56 32 Occasional (29-5%) HP:0001511
10 hypospadias 56 32 Occasional (29-5%) HP:0000047
11 multicystic kidney dysplasia 56 32 Occasional (29-5%) HP:0000003
12 abnormality of the pancreas 56 32 Occasional (29-5%) HP:0001732
13 low-set, posteriorly rotated ears 56 32 Occasional (29-5%) HP:0000368
14 anal atresia 56 32 Very frequent (99-80%) HP:0002023
15 polyhydramnios 56 32 Very frequent (99-80%) HP:0001561
16 abnormality of the ribs 56 32 Occasional (29-5%) HP:0000772
17 hypoplasia of penis 56 32 Occasional (29-5%) HP:0008736
18 tracheal stenosis 56 32 Very frequent (99-80%) HP:0002777
19 abnormality of the cardiac septa 56 32 Frequent (79-30%) HP:0001671
20 tracheoesophageal fistula 56 32 Frequent (79-30%) HP:0002575
21 vertebral segmentation defect 56 32 Frequent (79-30%) HP:0003422
22 large fontanelles 56 32 Occasional (29-5%) HP:0000239
23 ambiguous genitalia 56 32 Occasional (29-5%) HP:0000062
24 bifid scrotum 56 32 Occasional (29-5%) HP:0000048
25 preaxial hand polydactyly 56 32 Occasional (29-5%) HP:0001177
26 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
27 abnormality of the sacrum 56 32 Occasional (29-5%) HP:0005107
28 aplasia/hypoplasia of the lungs 56 32 Very frequent (99-80%) HP:0006703
29 anencephaly 56 32 Occasional (29-5%) HP:0002323
30 abnormality of female internal genitalia 56 32 Occasional (29-5%) HP:0000008
31 congenital diaphragmatic hernia 56 32 Frequent (79-30%) HP:0000776
32 omphalocele 56 32 Occasional (29-5%) HP:0001539
33 premature birth 56 32 Very frequent (99-80%) HP:0001622
34 abnormality of the intervertebral disk 56 32 Occasional (29-5%) HP:0005108
35 single umbilical artery 56 32 Occasional (29-5%) HP:0001195
36 aplasia/hypoplasia of the radius 56 32 Frequent (79-30%) HP:0006501
37 renal agenesis 56 32 Frequent (79-30%) HP:0000104
38 occipital encephalocele 56 32 Occasional (29-5%) HP:0002085
39 failure to thrive 32 HP:0001508
40 scoliosis 32 HP:0002650
41 abnormality of the vertebrae 32 HP:0003468
42 malformation of the heart and great vessels 56 Frequent (79-30%)
43 patent ductus arteriosus 32 HP:0001643
44 postnatal growth retardation 32 HP:0008897
45 vesicoureteral reflux 32 HP:0000076
46 tetralogy of fallot 32 HP:0001636
47 choanal atresia 32 HP:0000453
48 ventricular septal defect 32 HP:0001629
49 spina bifida 32 HP:0002414
50 anorectal anomaly 56 Occasional (29-5%)

MGI Mouse Phenotypes related to Vater/vacterl Association:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 EPPK1 FANCB KIDINS220 LPP PTF1A SHH
2 digestive/alimentary MP:0005381 9.72 HOXD13 PTF1A SHH ZIC3 FOXF1
3 embryo MP:0005380 9.65 FOXF1 HOXD13 PTF1A SHH ZIC3
4 mortality/aging MP:0010768 9.5 FOXF1 HOXD13 KIDINS220 LPP PTF1A SHH
5 limbs/digits/tail MP:0005371 9.46 HOXD13 PTF1A SHH ZIC3
6 vision/eye MP:0005391 9.02 HOXD13 KIDINS220 PTF1A SHH ZIC3

Drugs & Therapeutics for Vater/vacterl Association

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical and Genetic Studies of VACTERL Association Completed NCT00766571

Search NIH Clinical Center for Vater/vacterl Association

Cochrane evidence based reviews: vater association

Genetic Tests for Vater/vacterl Association

Genetic tests related to Vater/vacterl Association:

id Genetic test Affiliating Genes
1 Vacterl Association 29
2 Vater Association 29 24

Anatomical Context for Vater/vacterl Association

MalaCards organs/tissues related to Vater/vacterl Association:

39
Kidney, Heart, Pancreas, Lung, Trachea

Publications for Vater/vacterl Association

Articles related to Vater/vacterl Association:

(show all 13)
id Title Authors Year
1
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. ( 26881326 )
2016
2
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. ( 26857713 )
2016
3
Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse. ( 25775927 )
2015
4
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2015
5
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. ( 26294094 )
2015
6
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 )
2014
7
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. ( 23549274 )
2013
8
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
9
VATER/VACTERL Association: Evidence for the Role of Genetic Factors. ( 23653572 )
2013
10
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. ( 22895008 )
2012
11
Familial occurrence of the VATER/VACTERL association. ( 22422375 )
2012
12
Inheritance of the VATER/VACTERL association. ( 22581124 )
2012
13
VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. ( 1481853 )
1992

Variations for Vater/vacterl Association

ClinVar genetic disease variations for Vater/vacterl Association:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FOXF1 NM_001451.2(FOXF1): c.658G> T (p.Gly220Cys) single nucleotide variant Likely pathogenic rs752504125 GRCh38 Chromosome 16, 86511227: 86511227

Expression for Vater/vacterl Association

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

Pathways for Vater/vacterl Association

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

id Super pathways Score Top Affiliating Genes
1 10.93 FOXF1 PTF1A SHH

GO Terms for Vater/vacterl Association

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

(show all 28)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.89 FOXF1 PTF1A SHH ZIC3
2 transcription from RNA polymerase II promoter GO:0006366 9.88 FOXF1 HOXD13 PTF1A ZIC3
3 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.88 FOXF1 HOXD13 PTF1A SHH ZIC3
4 smoothened signaling pathway GO:0007224 9.64 FOXF1 SHH
5 vasculogenesis GO:0001570 9.63 FOXF1 SHH
6 embryonic digit morphogenesis GO:0042733 9.63 HOXD13 SHH
7 lung development GO:0030324 9.63 FOXF1 SHH ZIC3
8 cell fate commitment GO:0045165 9.62 PTF1A SHH
9 heart looping GO:0001947 9.62 SHH ZIC3
10 embryonic limb morphogenesis GO:0030326 9.61 HOXD13 SHH
11 embryo development GO:0009790 9.61 PTF1A SHH
12 anterior/posterior pattern specification GO:0009952 9.61 HOXD13 SHH ZIC3
13 neuron fate commitment GO:0048663 9.6 PTF1A SHH
14 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 FOXF1 SHH
15 renal system development GO:0072001 9.57 FOXF1 SHH
16 hindbrain development GO:0030902 9.56 PTF1A SHH
17 lung morphogenesis GO:0060425 9.55 FOXF1 SHH
18 male genitalia development GO:0030539 9.54 HOXD13 SHH
19 embryonic digestive tract morphogenesis GO:0048557 9.52 FOXF1 SHH
20 intermediate filament organization GO:0045109 9.51 EPPK1 SHH
21 epithelial tube branching involved in lung morphogenesis GO:0060441 9.49 FOXF1 SHH
22 determination of left/right symmetry GO:0007368 9.43 FOXF1 SHH ZIC3
23 embryonic foregut morphogenesis GO:0048617 9.4 FOXF1 SHH
24 lung lobe morphogenesis GO:0060463 9.37 FOXF1 SHH
25 respiratory tube development GO:0030323 9.32 FOXF1 SHH
26 trachea development GO:0060438 9.16 FOXF1 SHH
27 pattern specification process GO:0007389 9.13 HOXD13 SHH ZIC3
28 pancreas development GO:0031016 8.8 FOXF1 PTF1A SHH

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

id Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.13 HOXD13 PTF1A ZIC3
2 sequence-specific DNA binding GO:0043565 8.92 FOXF1 HOXD13 PTF1A ZIC3

Sources for Vater/vacterl Association

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....