MCID: VTR016
MIFTS: 39

Vater/vacterl Association

Categories: Nephrological diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Vater/vacterl Association

MalaCards integrated aliases for Vater/vacterl Association:

Name: Vater/vacterl Association 54
Vacterl Association 56 71 69
Vater Association 56 69
Vacterl/vater Association 56
Vacterl 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
isolated cases

Miscellaneous:
single umbilical artery
seen more frequently in infants of diabetic mothers
estimated frequency 1.6 cases/10,000 live births
nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies)
diagnosis made if 3/7 defects are present


HPO:

32
vater/vacterl association:
Inheritance sporadic


Classifications:



Summaries for Vater/vacterl Association

OMIM : 54
VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390). (192350)

MalaCards based summary : Vater/vacterl Association, also known as vacterl association, is related to vater association with macrocephaly and ventriculomegaly and vacterl association, and has symptoms including ambiguous genitalia, intrauterine growth retardation and cleft palate. 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, pancreas and lung, and related phenotypes are digestive/alimentary and embryo

UniProtKB/Swiss-Prot : 71 VACTERL association: VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.

Related Diseases for Vater/vacterl Association

Diseases related to Vater/vacterl Association via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 vater association with macrocephaly and ventriculomegaly 12.0
2 vacterl association 10.5
3 laryngitis 9.9
4 neural tube defects 9.9
5 esophageal atresia 9.9
6 imperforate anus 9.9
7 esophagitis 9.9
8 transitional cell cancer of the renal pelvis and ureter 9.5 HOXD13 ZIC3
9 behcet syndrome 7.8 EPPK1 FOXF1 HOXD13 PTF1A ZIC3
10 branchiootorenal syndrome 7.6 EPPK1 FOXF1 HOXD13 PTF1A ZIC3

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 via clinical synopsis from OMIM:

54

Growth- Weight:
failure to thrive

Respiratory- Nasopharynx:
choanal atresia

Genitourinary- External Genitalia Male:
hypospadias

Cardiovascular- Heart:
tetralogy of fallot
ventricular septal defects
transposition of the great arteries

Skeletal- Hands:
syndactyly
thumb hypoplasia
triphalangeal thumb
preaxial polydactyly

Abdomen- Gastroin testinal:
tracheoesophageal fistula
esophageal atresia
anal atresia

Respiratory- Larynx:
laryngeal stenosis

Neurologic- Central Nervous System:
occipital encephalocele
tethered cord
spinal dysrhaphia

Respiratory- Airways:
tracheal agenesis

Skeletal- Spine:
scoliosis
vertebral anomalies

Cardiovascular- Vascular:
patent ductus arteriosus

Genitourinary- Kidneys:
hydronephrosis
renal dysplasia
renal ectopia
renal aplasia

Genitourinary- Ureters:
vesicoureteral reflux
ureteropelvic junction obstruction

Skeletal- Limbs:
radioulnar synostosis
radial aplasia
radial hypoplasia

Growth- Other:
prenatal growth deficiency
postnatal growth deficiency

Chest- Ribs Sternum Clavicles And Scapulae:
rib anomalies
sternal anomalies

Head And Neck- Head:
large fontanels

Genitourinary- Bladder:
persistent urachus


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 ambiguous genitalia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000062
2 intrauterine growth retardation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001511
3 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
4 hypospadias 56 32 occasional (7.5%) Occasional (29-5%) HP:0000047
5 large fontanelles 56 32 occasional (7.5%) Occasional (29-5%) HP:0000239
6 polyhydramnios 56 32 hallmark (90%) Very frequent (99-80%) HP:0001561
7 premature birth 56 32 hallmark (90%) Very frequent (99-80%) HP:0001622
8 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
9 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
10 omphalocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0001539
11 single umbilical artery 56 32 occasional (7.5%) Occasional (29-5%) HP:0001195
12 bifid scrotum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000048
13 anencephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002323
14 renal agenesis 56 32 frequent (33%) Frequent (79-30%) HP:0000104
15 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
16 low-set, posteriorly rotated ears 56 32 occasional (7.5%) Occasional (29-5%) HP:0000368
17 tracheoesophageal fistula 56 32 frequent (33%) Frequent (79-30%) HP:0002575
18 tracheal stenosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002777
19 congenital diaphragmatic hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000776
20 ectopic kidney 56 32 frequent (33%) Frequent (79-30%) HP:0000086
21 laryngomalacia 56 32 frequent (33%) Frequent (79-30%) HP:0001601
22 anal atresia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002023
23 occipital encephalocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0002085
24 cavernous hemangioma 56 32 occasional (7.5%) Occasional (29-5%) HP:0001048
25 hypoplasia of penis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008736
26 abnormality of the gallbladder 56 32 occasional (7.5%) Occasional (29-5%) HP:0005264
27 non-midline cleft lip 56 32 occasional (7.5%) Occasional (29-5%) HP:0100335
28 multicystic kidney dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000003
29 abnormality of the pancreas 56 32 occasional (7.5%) Occasional (29-5%) HP:0001732
30 abnormality of the ribs 56 32 occasional (7.5%) Occasional (29-5%) HP:0000772
31 abnormality of the cardiac septa 56 32 frequent (33%) Frequent (79-30%) HP:0001671
32 vertebral segmentation defect 56 32 frequent (33%) Frequent (79-30%) HP:0003422
33 preaxial hand polydactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001177
34 abnormality of the sacrum 56 32 occasional (7.5%) Occasional (29-5%) HP:0005107
35 aplasia/hypoplasia of the lungs 56 32 hallmark (90%) Very frequent (99-80%) HP:0006703
36 abnormality of female internal genitalia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000008
37 abnormality of the intervertebral disk 56 32 occasional (7.5%) Occasional (29-5%) HP:0005108
38 aplasia/hypoplasia of the radius 56 32 frequent (33%) Frequent (79-30%) HP:0006501
39 failure to thrive 32 HP:0001508
40 scoliosis 32 HP:0002650
41 choanal atresia 32 HP:0000453
42 patent ductus arteriosus 32 HP:0001643
43 ventricular septal defect 32 HP:0001629
44 tetralogy of fallot 32 HP:0001636
45 vesicoureteral reflux 32 HP:0000076
46 spina bifida 32 HP:0002414
47 syndactyly 32 HP:0001159
48 radioulnar synostosis 32 HP:0002974
49 renal dysplasia 32 HP:0000110
50 ureteropelvic junction obstruction 32 HP:0000074

MGI Mouse Phenotypes related to Vater/vacterl Association:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.46 FOXF1 HOXD13 PTF1A ZIC3
2 embryo MP:0005380 9.26 PTF1A ZIC3 FOXF1 HOXD13
3 limbs/digits/tail MP:0005371 8.8 HOXD13 PTF1A ZIC3

Drugs & Therapeutics for Vater/vacterl Association

Interventional clinical trials:


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

Search NIH Clinical Center for Vater/vacterl Association

Genetic Tests for Vater/vacterl Association

Anatomical Context for Vater/vacterl Association

MalaCards organs/tissues related to Vater/vacterl Association:

39
Kidney, Pancreas, Lung, Heart, 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
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2015
4
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
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 10.75 FOXF1 PTF1A

GO Terms for Vater/vacterl Association

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.62 FOXF1 PTF1A

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.8 FOXF1 HOXD13 PTF1A ZIC3
2 transcription, DNA-templated GO:0006351 9.76 FOXF1 HOXD13 PTF1A ZIC3
3 positive regulation of transcription, DNA-templated GO:0045893 9.54 FOXF1 PTF1A ZIC3
4 cell differentiation GO:0030154 9.48 PTF1A ZIC3
5 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.46 FOXF1 HOXD13 PTF1A ZIC3
6 anterior/posterior pattern specification GO:0009952 9.43 HOXD13 ZIC3
7 lung development GO:0030324 9.4 FOXF1 ZIC3
8 determination of left/right symmetry GO:0007368 9.32 FOXF1 ZIC3
9 pattern specification process GO:0007389 9.26 HOXD13 ZIC3
10 pancreas development GO:0031016 8.96 FOXF1 PTF1A
11 transcription from RNA polymerase II promoter GO:0006366 8.92 FOXF1 HOXD13 PTF1A ZIC3

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.5 FOXF1 HOXD13 ZIC3
2 DNA binding GO:0003677 9.46 FOXF1 HOXD13 PTF1A ZIC3
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.26 FOXF1 HOXD13
4 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.13 HOXD13 PTF1A ZIC3
5 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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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