MCID: VTR016
MIFTS: 45

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 57
Vacterl Association 59 75 73
Vacterl/vater Association 59 37
Vater Association 59 73
Vacterl 75

Characteristics:

Orphanet epidemiological data:

59
vacterl/vater association
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal;

OMIM:

57
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

Inheritance:
isolated cases


HPO:

32
vater/vacterl association:
Inheritance sporadic


Classifications:



Summaries for Vater/vacterl Association

OMIM : 57 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 vacterl association and pancreas, annular. An important gene associated with Vater/vacterl Association is HOXD13 (Homeobox D13), and among its related pathways/superpathways are Inositol phosphate metabolism and Phosphatidylinositol signaling system. Affiliated tissues include kidney, pancreas and lung, and related phenotypes are finger syndactyly and laryngomalacia

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 vacterl association 27.7 EPPK1 FOXF1 HOXD13 ZIC3
2 pancreas, annular 10.0
3 neural tube defects 10.0
4 tracheoesophageal fistula with or without esophageal atresia 10.0
5 anus, imperforate 10.0
6 neural tube defects, folate-sensitive 10.0
7 esophageal atresia 10.0
8 esophagitis 10.0
9 laryngitis 10.0
10 tracheoesophageal fistula 9.2 HOXD13 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:

57
Growth Weight:
failure to thrive

Cardiovascular Vascular:
patent ductus arteriosus

Abdomen Gastrointestinal:
anal atresia
tracheoesophageal fistula
esophageal atresia

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

Skeletal Limbs:
radioulnar synostosis
radial aplasia
radial hypoplasia

Genitourinary Kidneys:
hydronephrosis
renal dysplasia
renal ectopia
renal aplasia

Respiratory Larynx:
laryngeal stenosis

Growth Other:
prenatal growth deficiency
postnatal growth deficiency

Respiratory Airways:
tracheal agenesis

Skeletal Spine:
scoliosis
vertebral anomalies

Genitourinary External Genitalia Male:
hypospadias

Genitourinary Ureters:
vesicoureteral reflux
ureteropelvic junction obstruction

Respiratory Nasopharynx:
choanal atresia

Skeletal Hands:
triphalangeal thumb
syndactyly
preaxial polydactyly
thumb hypoplasia

Neurologic Central Nervous System:
occipital encephalocele
tethered cord
spinal dysrhaphia

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:

59 32 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
2 laryngomalacia 59 32 frequent (33%) Frequent (79-30%) HP:0001601
3 abnormality of the gallbladder 59 32 occasional (7.5%) Occasional (29-5%) HP:0005264
4 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
5 ectopic kidney 59 32 frequent (33%) Frequent (79-30%) HP:0000086
6 cavernous hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001048
7 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
8 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
9 non-midline cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0100335
10 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
11 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
12 abnormality of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001732
13 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
14 anal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002023
15 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
16 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
17 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
18 tracheal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002777
19 tracheoesophageal fistula 59 32 frequent (33%) Frequent (79-30%) HP:0002575
20 vertebral segmentation defect 59 32 frequent (33%) Frequent (79-30%) HP:0003422
21 large fontanelles 59 32 occasional (7.5%) Occasional (29-5%) HP:0000239
22 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
23 bifid scrotum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000048
24 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
25 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
26 abnormality of the sacrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0005107
27 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
28 anencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002323
29 abnormality of female internal genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000008
30 congenital diaphragmatic hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000776
31 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
32 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
33 abnormality of the intervertebral disk 59 32 occasional (7.5%) Occasional (29-5%) HP:0005108
34 single umbilical artery 59 32 occasional (7.5%) Occasional (29-5%) HP:0001195
35 aplasia/hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0006501
36 renal agenesis 59 32 frequent (33%) Frequent (79-30%) HP:0000104
37 occipital encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002085
38 failure to thrive 32 HP:0001508
39 scoliosis 32 HP:0002650
40 abnormal vertebral morphology 32 HP:0003468
41 malformation of the heart and great vessels 59 Frequent (79-30%)
42 patent ductus arteriosus 32 HP:0001643
43 postnatal growth retardation 32 HP:0008897
44 vesicoureteral reflux 32 HP:0000076
45 tetralogy of fallot 32 HP:0001636
46 choanal atresia 32 HP:0000453
47 ventricular septal defect 32 HP:0001629
48 spina bifida 32 HP:0002414
49 anorectal anomaly 59 Occasional (29-5%)
50 abnormality of the cardiac septa 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Vater/vacterl Association:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.26 FOXF1 HOXD13 PTF1A ZIC3
2 embryo MP:0005380 8.92 FOXF1 HOXD13 PTF1A ZIC3

Drugs & Therapeutics for Vater/vacterl Association

Interventional clinical trials:


# 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:

41
Kidney, Pancreas, Lung, Heart, Testes, Trachea

Publications for Vater/vacterl Association

Articles related to Vater/vacterl Association:

(show top 50) (show all 158)
# Title Authors Year
1
Congenital Malformations Resembling VACTERL Association in a Golden Retriever. ( 29131674 )
2018
2
Severe unicuspid aortic valve stenosis: VACTERL association. ( 28942414 )
2017
3
Sirenomelia with VACTERL association-a rare anomaly. ( 29031871 )
2017
4
A Rare Case of Pulmonary Artery Sling with the VACTERL Association in a 20-Month-Old Infant. ( 29062381 )
2017
5
Bilateral cochlear nerve absence in a 3 year old child with VACTERL association. ( 28109502 )
2017
6
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. ( 28403078 )
2017
7
Ectopic Scrotum with VACTERL Association. ( 28770133 )
2017
8
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. ( 27084730 )
2016
9
VACTERL Association with Sacrococcygeal Teratoma. ( 27567656 )
2016
10
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. ( 26881326 )
2016
11
Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus. ( 26929876 )
2016
12
Moyamoya Disease in a Patient with VACTERL Association. ( 26844876 )
2016
13
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. ( 26857713 )
2016
14
Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association. ( 27061706 )
2016
15
Novel FANCI mutations in Fanconi anemia with VACTERL association. ( 26590883 )
2016
16
Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association. ( 29485824 )
2016
17
VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. ( 25988067 )
2015
18
PCSK5 mutation in a patient with the VACTERL association. ( 26055999 )
2015
19
A patient with VACTERL association for caesarean delivery. ( 26019364 )
2015
20
Kidney transplantation in an adult patient with VACTERL association. ( 26106170 )
2015
21
UHL'S ANOMALY AS A PART OF VACTERL ASSOCIATION. ( 26349203 )
2015
22
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
23
The VACTERL Association as a disturbance of cell fate determination. ( 26174174 )
2015
24
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. ( 26294094 )
2015
25
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. ( 25754594 )
2015
26
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2015
27
Prenatal diagnosis of the VACTERL association using routine ultrasound examination. ( 26033534 )
2015
28
VACTERL association in anorectal malformation: effect on the outcome. ( 26143411 )
2015
29
Clinical, Cytogenetic, Environmental and Inheritance Findings in Mexican Neonates with VACTERL Association. ( 25008186 )
2014
30
A case of VACTERL and non-VACTERL association without the "V and L". ( 24591785 )
2014
31
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association. ( 24416387 )
2014
32
Scimitar syndrome in a case with VACTERL association. ( 24905790 )
2014
33
An aberrant subclavian artery exhibiting the partial steal phenomenon in a patient with VACTERL association. ( 25130125 )
2014
34
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. ( 25059024 )
2014
35
Recessive mutations in CAKUT and VACTERL association. ( 24875543 )
2014
36
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
37
Analysis of renal anomalies in VACTERL association. ( 25196458 )
2014
38
Considering the Embryopathogenesis of VACTERL Association. ( 23653571 )
2013
39
Unusual variant of scimitar syndrome associated with an absent right pulmonary artery, stenosis of the inferior vena cava, hemi-azygous continuation and the VACTERL association. ( 23728126 )
2013
40
VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia. ( 24368291 )
2013
41
Adriamycin-Induced Models of VACTERL Association. ( 23653576 )
2013
42
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. ( 23526679 )
2013
43
Anesthetic management of a parturient with VACTERL association undergoing Cesarean delivery. ( 23519725 )
2013
44
VATER/VACTERL Association: Evidence for the Role of Genetic Factors. ( 23653572 )
2013
45
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. ( 24152966 )
2013
46
Analysis of cardiac anomalies in VACTERL association. ( 24343877 )
2013
47
Sporadic VACTERL association in a Japanese family with SjAPgren-Larsson syndrome. ( 23450279 )
2013
48
VACTERL association with double-chambered left ventricle: A rare occurrence. ( 24688248 )
2013
49
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. ( 23549274 )
2013
50
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. ( 23653574 )
2013

Variations for Vater/vacterl Association

ClinVar genetic disease variations for Vater/vacterl Association:

6
(show all 22)
# 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
2 FOXF1 NM_001451.2(FOXF1): c.658G> T (p.Gly220Cys) single nucleotide variant Likely pathogenic rs752504125 GRCh37 Chromosome 16, 86544833: 86544833
3 SMYD3 GRCh37/hg19 1q44(chr1: 245900039-246475061)x1 copy number loss Likely benign GRCh37 Chromosome 1, 245900039: 246475061
4 CCDC74A; MZT2A; TUBA3D GRCh37/hg19 2q21.1(chr2: 132140614-132312325)x3 copy number gain Likely benign GRCh37 Chromosome 2, 132140614: 132312325
5 PARM1 GRCh37/hg19 4q13.3(chr4: 75720151-75883784)x1 copy number loss Likely benign GRCh37 Chromosome 4, 75720151: 75883784
6 NREP GRCh37/hg19 5q22.1(chr5: 111241351-111390356)x1 copy number loss Likely benign GRCh37 Chromosome 5, 111241351: 111390356
7 FAM170A GRCh37/hg19 5q23.1(chr5: 118890915-119082631)x1 copy number loss Likely pathogenic GRCh37 Chromosome 5, 118890915: 119082631
8 AGMO GRCh37/hg19 7p21.2(chr7: 15424383-15534832)x3 copy number gain Likely benign GRCh37 Chromosome 7, 15424383: 15534832
9 CNTNAP2 GRCh37/hg19 7q35(chr7: 147516080-147803861)x1 copy number loss Likely benign GRCh37 Chromosome 7, 147516080: 147803861
10 FBP1; FBP2 GRCh37/hg19 9q22.32(chr9: 97290466-97419146)x1 copy number loss Likely benign GRCh37 Chromosome 9, 97290466: 97419146
11 FXYD4; HNRNPF GRCh37/hg19 10q11.21(chr10: 43796180-44037408)x3 copy number gain Likely pathogenic GRCh37 Chromosome 10, 43796180: 44037408
12 SORCS1 GRCh37/hg19 10q25.1(chr10: 107722094-109081424)x3 copy number gain Likely benign GRCh37 Chromosome 10, 107722094: 109081424
13 ANKS1B; UHRF1BP1L GRCh37/hg19 12q23.1(chr12: 100367541-100489446)x1 copy number loss Likely benign GRCh37 Chromosome 12, 100367541: 100489446
14 DNAJC15; EPSTI1 GRCh37/hg19 13q14.11(chr13: 43505151-43762719)x3 copy number gain Likely benign GRCh37 Chromosome 13, 43505151: 43762719
15 GPC5 GRCh37/hg19 13q31.3(chr13: 93377562-93606814)x1 copy number loss Likely benign GRCh37 Chromosome 13, 93377562: 93606814
16 NALCN GRCh37/hg19 13q32.3-33.1(chr13: 101605129-101748121)x1 copy number loss Likely benign GRCh37 Chromosome 13, 101605129: 101748121
17 ALPK3; NMB; PDE8A; SEC11A; SLC28A1; WDR73; ZNF592; ZSCAN2 GRCh37/hg19 15q25.2-25.3(chr15: 84931022-85728834)x1 copy number loss Likely benign GRCh37 Chromosome 15, 84931022: 85728834
18 CDH13 GRCh37/hg19 16q23.3(chr16: 83414018-83518410)x1 copy number loss Likely pathogenic GRCh37 Chromosome 16, 83414018: 83518410
19 ABR; BHLHA9; TRARG1; YWHAE GRCh37/hg19 17p13.3(chr17: 1007540-1254875)x3 copy number gain Likely benign GRCh37 Chromosome 17, 1007540: 1254875
20 subset of 15 genes:HNF1B GRCh37/hg19 17q12(chr17: 34815551-36208392)x1 copy number loss Pathogenic GRCh37 Chromosome 17, 34815551: 36208392
21 B3GNTL1; METRNL; TBCD GRCh37/hg19 17q25.3(chr17: 80881583-81060040)x3 copy number gain Likely benign GRCh37 Chromosome 17, 80881583: 81060040
22 subset of 46 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18915347-21463730)x1 copy number loss Likely pathogenic GRCh37 Chromosome 22, 18915347: 21463730

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 KEGG:

37
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 Phosphatidylinositol signaling system hsa04070
3 p53 signaling pathway hsa04115
4 Focal adhesion hsa04510
5 Tight junction hsa04530

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

# Super pathways Score Top Affiliating Genes
1 10.75 FOXF1 PTF1A

GO Terms for Vater/vacterl Association

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.72 BAZ1A FOXF1 HOXD13 PTF1A ZIC3
2 positive regulation of transcription, DNA-templated GO:0045893 9.65 FOXF1 PTF1A ZIC3
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.56 FOXF1 HOXD13 PTF1A ZIC3
4 transcription, DNA-templated GO:0006351 9.55 BAZ1A FOXF1 HOXD13 PTF1A ZIC3
5 anterior/posterior pattern specification GO:0009952 9.46 HOXD13 ZIC3
6 lung development GO:0030324 9.43 FOXF1 ZIC3
7 determination of left/right symmetry GO:0007368 9.4 FOXF1 ZIC3
8 pattern specification process GO:0007389 9.37 HOXD13 ZIC3
9 pancreas development GO:0031016 8.96 FOXF1 PTF1A
10 transcription by RNA polymerase II GO:0006366 8.92 FOXF1 HOXD13 PTF1A ZIC3

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.46 FOXF1 HOXD13 PTF1A ZIC3
2 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.26 FOXF1 HOXD13
3 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.13 HOXD13 PTF1A ZIC3
4 sequence-specific DNA binding GO:0043565 8.92 FOXF1 HOXD13 PTF1A ZIC3

Sources for Vater/vacterl Association

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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