MCID: VTR016
MIFTS: 37

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 53
Vacterl Association 55 71 69
Vacterl/vater Association 55 36
Vater Association 55 69
Vacterl 71

Characteristics:

Orphanet epidemiological data:

55
vacterl/vater association
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal;

OMIM:

53
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:

31
vater/vacterl association:
Inheritance sporadic


Classifications:



Summaries for Vater/vacterl Association

OMIM : 53 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 spastic ataxia 1, autosomal dominant and spastic ataxia 1, 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 are Inositol phosphate metabolism and Phosphatidylinositol signaling system. Affiliated tissues include kidney, pancreas and lung.

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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia 1, autosomal dominant 240.5 SAX1 VAMP1
2 spastic ataxia 1 240.5 SAX1 VAMP1
3 vacterl association 10.5
4 pancreas, annular 10.0
5 neural tube defects 10.0
6 tracheoesophageal fistula with or without esophageal atresia 10.0
7 anus, imperforate 10.0
8 neural tube defects, folate-sensitive 10.0
9 esophageal atresia 10.0
10 esophagitis 10.0
11 laryngitis 10.0

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:

53
Growth Weight:
failure to thrive

Cardiovascular Vascular:
patent ductus arteriosus

Abdomen Gastroin testinal:
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 RibsSternum 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:

55 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
2 laryngomalacia 55 31 frequent (33%) Frequent (79-30%) HP:0001601
3 abnormality of the gallbladder 55 31 occasional (7.5%) Occasional (29-5%) HP:0005264
4 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
5 ectopic kidney 55 31 frequent (33%) Frequent (79-30%) HP:0000086
6 cavernous hemangioma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001048
7 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
8 intrauterine growth retardation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001511
9 non-midline cleft lip 55 31 occasional (7.5%) Occasional (29-5%) HP:0100335
10 hypospadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000047
11 multicystic kidney dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000003
12 abnormality of the pancreas 55 31 occasional (7.5%) Occasional (29-5%) HP:0001732
13 low-set, posteriorly rotated ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000368
14 anal atresia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002023
15 polyhydramnios 55 31 hallmark (90%) Very frequent (99-80%) HP:0001561
16 abnormality of the ribs 55 31 occasional (7.5%) Occasional (29-5%) HP:0000772
17 hypoplasia of penis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008736
18 tracheal stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002777
19 tracheoesophageal fistula 55 31 frequent (33%) Frequent (79-30%) HP:0002575
20 vertebral segmentation defect 55 31 frequent (33%) Frequent (79-30%) HP:0003422
21 large fontanelles 55 31 occasional (7.5%) Occasional (29-5%) HP:0000239
22 ambiguous genitalia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000062
23 bifid scrotum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000048
24 preaxial hand polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001177
25 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
26 abnormality of the sacrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0005107
27 aplasia/hypoplasia of the lungs 55 31 hallmark (90%) Very frequent (99-80%) HP:0006703
28 anencephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002323
29 abnormality of female internal genitalia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000008
30 congenital diaphragmatic hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000776
31 omphalocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0001539
32 premature birth 55 31 hallmark (90%) Very frequent (99-80%) HP:0001622
33 abnormality of the intervertebral disk 55 31 occasional (7.5%) Occasional (29-5%) HP:0005108
34 single umbilical artery 55 31 occasional (7.5%) Occasional (29-5%) HP:0001195
35 aplasia/hypoplasia of the radius 55 31 frequent (33%) Frequent (79-30%) HP:0006501
36 renal agenesis 55 31 frequent (33%) Frequent (79-30%) HP:0000104
37 occipital encephalocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0002085
38 failure to thrive 31 HP:0001508
39 scoliosis 31 HP:0002650
40 abnormal vertebral morphology 31 HP:0003468
41 malformation of the heart and great vessels 55 Frequent (79-30%)
42 patent ductus arteriosus 31 HP:0001643
43 postnatal growth retardation 31 HP:0008897
44 vesicoureteral reflux 31 HP:0000076
45 tetralogy of fallot 31 HP:0001636
46 choanal atresia 31 HP:0000453
47 ventricular septal defect 31 HP:0001629
48 spina bifida 31 HP:0002414
49 anorectal anomaly 55 Occasional (29-5%)
50 abnormality of the cardiac septa 55 Frequent (79-30%)

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:

38
Kidney, Pancreas, Lung, Heart, Trachea

Publications for Vater/vacterl Association

Articles related to Vater/vacterl Association:

(show top 50) (show all 155)
# 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
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. ( 28403078 )
2017
4
Ectopic Scrotum with VACTERL Association. ( 28770133 )
2017
5
Bilateral cochlear nerve absence in a 3 year old child with VACTERL association. ( 28109502 )
2017
6
Sirenomelia with VACTERL association-a rare anomaly. ( 29031871 )
2017
7
A Rare Case of Pulmonary Artery Sling with the VACTERL Association in a 20-Month-Old Infant. ( 29062381 )
2017
8
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. ( 26857713 )
2016
9
Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus. ( 26929876 )
2016
10
Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association. ( 27061706 )
2016
11
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. ( 27084730 )
2016
12
Novel FANCI mutations in Fanconi anemia with VACTERL association. ( 26590883 )
2016
13
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. ( 26881326 )
2016
14
Moyamoya Disease in a Patient with VACTERL Association. ( 26844876 )
2016
15
VACTERL Association with Sacrococcygeal Teratoma. ( 27567656 )
2016
16
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
17
A patient with VACTERL association for caesarean delivery. ( 26019364 )
2015
18
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. ( 26294094 )
2015
19
PCSK5 mutation in a patient with the VACTERL association. ( 26055999 )
2015
20
VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. ( 25988067 )
2015
21
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. ( 25754594 )
2015
22
Kidney transplantation in an adult patient with VACTERL association. ( 26106170 )
2015
23
UHL'S ANOMALY AS A PART OF VACTERL ASSOCIATION. ( 26349203 )
2015
24
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. ( 26072132 )
2015
25
Prenatal diagnosis of the VACTERL association using routine ultrasound examination. ( 26033534 )
2015
26
VACTERL association in anorectal malformation: effect on the outcome. ( 26143411 )
2015
27
The VACTERL Association as a disturbance of cell fate determination. ( 26174174 )
2015
28
Scimitar syndrome in a case with VACTERL association. ( 24905790 )
2014
29
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
30
A case of VACTERL and non-VACTERL association without the "V and L". ( 24591785 )
2014
31
An aberrant subclavian artery exhibiting the partial steal phenomenon in a patient with VACTERL association. ( 25130125 )
2014
32
Recessive mutations in CAKUT and VACTERL association. ( 24875543 )
2014
33
Clinical, Cytogenetic, Environmental and Inheritance Findings in Mexican Neonates with VACTERL Association. ( 25008186 )
2014
34
Analysis of renal anomalies in VACTERL association. ( 25196458 )
2014
35
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association. ( 24416387 )
2014
36
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. ( 25059024 )
2014
37
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. ( 23653573 )
2013
38
Adriamycin-Induced Models of VACTERL Association. ( 23653576 )
2013
39
Sporadic VACTERL association in a Japanese family with SjAPgren-Larsson syndrome. ( 23450279 )
2013
40
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
41
Anesthetic management of a parturient with VACTERL association undergoing Cesarean delivery. ( 23519725 )
2013
42
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. ( 24152966 )
2013
43
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. ( 23526679 )
2013
44
Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation. ( 23933666 )
2013
45
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. ( 23653574 )
2013
46
VATER/VACTERL Association: Evidence for the Role of Genetic Factors. ( 23653572 )
2013
47
Monochorionic twin fetus with VACTERL association after intracytoplasmic sperm injection. ( 23751045 )
2013
48
Considering the Embryopathogenesis of VACTERL Association. ( 23653571 )
2013
49
Sonic Hedgehog Signaling and VACTERL Association. ( 23653575 )
2013
50
Analysis of cardiac anomalies in VACTERL association. ( 24343877 )
2013

Variations for Vater/vacterl Association

ClinVar genetic disease variations for Vater/vacterl Association:

6
# 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 FAM170A GRCh37/hg19 5q23.1(chr5: 118890915-119082631)x1 copy number loss Likely pathogenic GRCh37 Chromosome 5, 118890915: 119082631
3 FXYD4; HNRNPF GRCh37/hg19 10q11.21(chr10: 43796180-44037408)x3 copy number gain Likely pathogenic GRCh37 Chromosome 10, 43796180: 44037408
4 CDH13 GRCh37/hg19 16q23.3(chr16: 83414018-83518410)x1 copy number loss Likely pathogenic GRCh37 Chromosome 16, 83414018: 83518410
5 subset of 15 genes:HNF1B GRCh37/hg19 17q12(chr17: 34815551-36208392)x1 copy number loss Pathogenic GRCh37 Chromosome 17, 34815551: 36208392
6 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:

36
# 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

GO Terms for Vater/vacterl Association

Sources for Vater/vacterl Association

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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