VACTERLX
MCID: VCT005
MIFTS: 40

Vacterl Association, X-Linked, with or Without Hydrocephalus (VACTERLX)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Vacterl Association, X-Linked, with or Without Hydrocephalus

MalaCards integrated aliases for Vacterl Association, X-Linked, with or Without Hydrocephalus:

Name: Vacterl Association, X-Linked, with or Without Hydrocephalus 57 29 6 70
Vacterlx 57 12 72
Vacterl Association, X-Linked 57 13
X-Linked Vacterl Association 12 15
Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies 72
Vacterl Association, X-Linked with or Without Hydrocephalus 12
Vacterl Association X-Linked with or Without Hydrocephalus 72
Vacterl Association with Hydrocephalus 70
Vacterl-H, X-Linked 57
Vacterl Association 70
X-Linked Vacterl-H 72
Vacterl Syndrome 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
variable phenotype

Inheritance:
x-linked recessive


HPO:

31
vacterl association, x-linked, with or without hydrocephalus:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111766
OMIM® 57 314390
MeSH 44 D000015
UMLS 70 C1735591 C1848599 C2931228

Summaries for Vacterl Association, X-Linked, with or Without Hydrocephalus

UniProtKB/Swiss-Prot : 72 VACTERL association X-linked with or without hydrocephalus: A syndrome characterized by a non-random association of congenital defects. Affected individuals manifest vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula (TE), renal anomalies (R) such as urethral atresia with hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb. Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement.

MalaCards based summary : Vacterl Association, X-Linked, with or Without Hydrocephalus, also known as vacterlx, is related to vacterl association with hydrocephaly, x-linked and vater/vacterl association. An important gene associated with Vacterl Association, X-Linked, with or Without Hydrocephalus is ZIC3 (Zic Family Member 3), and among its related pathways/superpathways is Fanconi anemia pathway. The drugs Nicotinamide and Niacin have been mentioned in the context of this disorder. Affiliated tissues include heart and kidney, and related phenotypes are hydrocephalus and abnormal vertebral morphology

Disease Ontology : 12 A VACTERL association that has material basis in mutation in ZIC3 on chromosome Xq26.3 or FANCB on chromosome Xp22.2.

OMIM® : 57 VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see 192350). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984). (314390) (Updated 20-May-2021)

Related Diseases for Vacterl Association, X-Linked, with or Without Hydrocephalus

Diseases related to Vacterl Association, X-Linked, with or Without Hydrocephalus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 vacterl association with hydrocephaly, x-linked 32.3 ZIC3 FANCL
2 vater/vacterl association 31.7 ZIC3 FANCL
3 fanconi anemia, complementation group b 31.6 FANCL FANCB
4 vacterl association 30.7 ZIC3 TRAP1 LPP FANCL FANCB
5 vacterl with hydrocephalus 30.1 ZIC3 FANCL FANCB
6 esophageal atresia 29.9 LPP FANCL FANCB
7 anus, imperforate 29.6 ZIC3 FANCB DSTYK
8 vesicoureteral reflux 1 29.4 ZIC3 DSTYK
9 vacterl association with hydrocephalus 11.4
10 fanconi anemia, complementation group u 10.1 FANCL FANCB
11 fanconi anemia, complementation group v 10.1 FANCL FANCB
12 fanconi anemia, complementation group r 10.1 FANCL FANCB
13 fanconi anemia, complementation group t 10.1 FANCL FANCB
14 fanconi anemia, complementation group o 10.1 FANCL FANCB
15 hydrocephalus 10.1
16 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1
17 fanconi anemia, complementation group q 10.1 FANCL FANCB
18 fanconi anemia, complementation group p 10.1 FANCL FANCB
19 fanconi anemia, complementation group n 10.1 FANCL FANCB
20 tracheoesophageal fistula with or without esophageal atresia 10.0
21 fanconi anemia, complementation group d1 10.0 FANCL FANCB
22 fanconi anemia, complementation group j 10.0 FANCL FANCB
23 fanconi anemia, complementation group c 10.0 FANCL FANCB
24 heart septal defect 10.0
25 fanconi anemia, complementation group d2 9.9 FANCL FANCB
26 renal dysplasia 9.8
27 esophageal malformation 9.8
28 congenital achiasma 9.8
29 unilateral aplasia of the mullerian ducts 9.8
30 horseshoe kidney 9.8
31 hemometra 9.8
32 pathologic nystagmus 9.8
33 cataract 9.8
34 neuroblastoma 9.8
35 adrenal neuroblastoma 9.8
36 tracheal stenosis 9.8
37 atrial heart septal defect 9.8
38 ventricular septal defect 9.8
39 bile reflux 9.8
40 microcephaly 9.8
41 omphalocele 9.8
42 scoliosis 9.8
43 inflammatory myofibroblastic tumor 9.8
44 deficiency anemia 9.8
45 ifap syndrome 2 9.8
46 polydactyly 9.8
47 sacral defect with anterior meningocele 9.8
48 pulmonary hypoplasia, primary 9.8
49 wilms tumor 1 9.8
50 renal hypodysplasia/aplasia 1 9.8

Graphical network of the top 20 diseases related to Vacterl Association, X-Linked, with or Without Hydrocephalus:



Diseases related to Vacterl Association, X-Linked, with or Without Hydrocephalus

Symptoms & Phenotypes for Vacterl Association, X-Linked, with or Without Hydrocephalus

Human phenotypes related to Vacterl Association, X-Linked, with or Without Hydrocephalus:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 HP:0000238
2 abnormal vertebral morphology 31 HP:0003468
3 anal atresia 31 HP:0002023
4 hydronephrosis 31 HP:0000126
5 tracheoesophageal fistula 31 HP:0002575
6 hand polydactyly 31 HP:0001161
7 abnormality of the vertebral column 31 HP:0000925
8 proximal placement of thumb 31 HP:0009623
9 enlarged kidney 31 HP:0000105
10 atrioventricular canal defect 31 HP:0006695
11 urethral atresia 31 HP:0000068
12 transposition of the great arteries 31 HP:0001669
13 abnormality of cardiovascular system morphology 31 HP:0030680
14 absent radius 31 HP:0003974
15 short humerus 31 HP:0005792
16 isomerism 31 HP:0031853

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hydrocephalus

Genitourinary Kidneys:
hydronephrosis
enlarged kidneys

Genitourinary Bladder:
urethral atresia

Skeletal Spine:
vertebral anomalies

Skeletal Hands:
hexadactyly
proximally placed thumb

Abdomen Gastrointestinal:
anal atresia
tracheoesophageal fistula
imperforate anus

Respiratory Airways:
tracheoesophageal fistula

Cardiovascular Vascular:
transposition of the great arteries
subvalvular pulmonary stenosis

Skeletal Limbs:
radial aplasia
humeral hypoplasia

Cardiovascular Heart:
atrioventricular septal defect
cardiac malformations, variable
atrial isomerism

Clinical features from OMIM®:

314390 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Vacterl Association, X-Linked, with or Without Hydrocephalus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.17 FANCB FANCL IFT172 LPP TBX6 TRAP1

Drugs & Therapeutics for Vacterl Association, X-Linked, with or Without Hydrocephalus

Drugs for Vacterl Association, X-Linked, with or Without Hydrocephalus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational 98-92-0 936
2
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
3 Vitamin B3
4 Nicotinic Acids

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Genetic Studies of VACTERL Association Completed NCT00766571
2 Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations Recruiting NCT03799705

Search NIH Clinical Center for Vacterl Association, X-Linked, with or Without Hydrocephalus

Genetic Tests for Vacterl Association, X-Linked, with or Without Hydrocephalus

Genetic tests related to Vacterl Association, X-Linked, with or Without Hydrocephalus:

# Genetic test Affiliating Genes
1 Vacterl Association, X-Linked, with or Without Hydrocephalus 29 FANCB ZIC3

Anatomical Context for Vacterl Association, X-Linked, with or Without Hydrocephalus

MalaCards organs/tissues related to Vacterl Association, X-Linked, with or Without Hydrocephalus:

40
Heart, Kidney

Publications for Vacterl Association, X-Linked, with or Without Hydrocephalus

Articles related to Vacterl Association, X-Linked, with or Without Hydrocephalus:

# Title Authors PMID Year
1
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? 57 6
20452998 2010
2
VACTERL with hydrocephalus: family with X-linked VACTERL-H. 61 57
9508070 1998
3
From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. 57
21465648 2011
4
VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers. 57
8882398 1996
5
X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome. 57
8280876 1993
6
[Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail]. 6
2629409 1989
7
[Association of VACTERL and hydrocephalus: a new familial entity]. 57
6335367 1984
8
X-linked VACTERL-H caused by deletion of exon 3 in FANCB: A case report. 61
29232005 2018
9
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. 61
21910217 2011
10
Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. 61
16679491 2006

Variations for Vacterl Association, X-Linked, with or Without Hydrocephalus

ClinVar genetic disease variations for Vacterl Association, X-Linked, with or Without Hydrocephalus:

6 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZIC3 NM_003413.4(ZIC3):c.163_165GCC[3] (p.Ala54_Ala55dup) Microsatellite Pathogenic 29955 rs398122850 GRCh37: X:136649012-136649013
GRCh38: X:137566853-137566854
2 FANCL NM_001114636.1(FANCL):c.430del (p.Ser144fs) Deletion Pathogenic 209077 rs869320685 GRCh37: 2:58431306-58431306
GRCh38: 2:58204171-58204171
3 ZIC3 NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) SNV Conflicting interpretations of pathogenicity 190129 rs147232392 GRCh37: X:136648899-136648899
GRCh38: X:137566740-137566740
4 FANCB NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) SNV Uncertain significance 456183 rs761492600 GRCh37: X:14861942-14861942
GRCh38: X:14843820-14843820
5 FANCB NM_001018113.3(FANCB):c.952-13C>T SNV Uncertain significance 368028 rs1057515807 GRCh37: X:14877469-14877469
GRCh38: X:14859347-14859347
6 FANCB NM_001018113.3(FANCB):c.2373C>T (p.Ser791=) SNV Uncertain significance 913897 GRCh37: X:14861896-14861896
GRCh38: X:14843774-14843774
7 FANCB NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) SNV Uncertain significance 913944 GRCh37: X:14876002-14876002
GRCh38: X:14857880-14857880
8 ZIC3 NM_003413.4(ZIC3):c.*1237A>T SNV Uncertain significance 367960 rs772508899 GRCh37: X:136653466-136653466
GRCh38: X:137571307-137571307
9 ZIC3 NM_003413.4(ZIC3):c.*798_*802del Deletion Uncertain significance 367957 rs899320157 GRCh37: X:136653023-136653027
GRCh38: X:137570864-137570868
10 FANCB NM_001018113.3(FANCB):c.-111A>G SNV Uncertain significance 913592 GRCh37: X:14887085-14887085
GRCh38: X:14868963-14868963
11 FANCB NM_001018113.3(FANCB):c.-219G>T SNV Uncertain significance 913986 GRCh37: X:14891135-14891135
GRCh38: X:14873013-14873013
12 ZIC3 NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser) SNV Uncertain significance 914456 GRCh37: X:136649518-136649518
GRCh38: X:137567359-137567359
13 ZIC3 NM_003413.4(ZIC3):c.*153A>G SNV Uncertain significance 914968 GRCh37: X:136652382-136652382
GRCh38: X:137570223-137570223
14 ZIC3 NM_003413.4(ZIC3):c.*260T>C SNV Uncertain significance 914969 GRCh37: X:136652489-136652489
GRCh38: X:137570330-137570330
15 FANCB NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) SNV Uncertain significance 368033 rs970828551 GRCh37: X:14883276-14883276
GRCh38: X:14865154-14865154
16 FANCB NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) SNV Uncertain significance 368031 rs1057515809 GRCh37: X:14882851-14882851
GRCh38: X:14864729-14864729
17 ZIC3 NM_003413.4(ZIC3):c.*1715A>G SNV Uncertain significance 367962 rs1057515787 GRCh37: X:136653944-136653944
GRCh38: X:137571785-137571785
18 FANCB NM_001018113.3(FANCB):c.-230A>T SNV Uncertain significance 368038 rs1020271259 GRCh37: X:14891146-14891146
GRCh38: X:14873024-14873024
19 ZIC3 NM_003413.4(ZIC3):c.*1540G>A SNV Uncertain significance 367961 rs184855783 GRCh37: X:136653769-136653769
GRCh38: X:137571610-137571610
20 ZIC3 NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser) SNV Uncertain significance 367953 rs78870836 GRCh37: X:136648981-136648981
GRCh38: X:137566822-137566822
21 ZIC3 NM_003413.4(ZIC3):c.-479C>T SNV Uncertain significance 367952 rs1022475218 GRCh37: X:136648372-136648372
GRCh38: X:137566213-137566213
22 FANCB NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) SNV Uncertain significance 368026 rs1057515805 GRCh37: X:14871222-14871222
GRCh38: X:14853100-14853100
23 FANCB NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) SNV Uncertain significance 408160 rs200303151 GRCh37: X:14863185-14863185
GRCh38: X:14845063-14845063
24 FANCB NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) SNV Uncertain significance 456180 rs761346761 GRCh37: X:14883434-14883434
GRCh38: X:14865312-14865312
25 FANCB NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) SNV Uncertain significance 912444 GRCh37: X:14862861-14862861
GRCh38: X:14844739-14844739
26 FANCB NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) SNV Uncertain significance 912445 GRCh37: X:14863253-14863253
GRCh38: X:14845131-14845131
27 FANCB NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser) SNV Uncertain significance 912473 GRCh37: X:14882824-14882824
GRCh38: X:14864702-14864702
28 FANCB NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) SNV Uncertain significance 368027 rs956498867 GRCh37: X:14877330-14877330
GRCh38: X:14859208-14859208
29 FANCB NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) SNV Uncertain significance 368029 rs1057515808 GRCh37: X:14882719-14882719
GRCh38: X:14864597-14864597
30 ZIC3 NM_003413.4(ZIC3):c.-424C>A SNV Uncertain significance 912970 GRCh37: X:136648427-136648427
GRCh38: X:137566268-137566268
31 ZIC3 NM_003413.4(ZIC3):c.-335C>T SNV Uncertain significance 912971 GRCh37: X:136648516-136648516
GRCh38: X:137566357-137566357
32 ZIC3 NM_003413.4(ZIC3):c.*750A>G SNV Uncertain significance 913012 GRCh37: X:136652979-136652979
GRCh38: X:137570820-137570820
33 ZIC3 NM_003413.4(ZIC3):c.-169A>C SNV Uncertain significance 912972 GRCh37: X:136648682-136648682
GRCh38: X:137566523-137566523
34 ZIC3 NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu) SNV Uncertain significance 913334 GRCh37: X:136648966-136648966
GRCh38: X:137566807-137566807
35 ZIC3 NM_003413.4(ZIC3):c.*1362T>G SNV Uncertain significance 913013 GRCh37: X:136653591-136653591
GRCh38: X:137571432-137571432
36 ZIC3 NM_003413.4(ZIC3):c.*1492T>C SNV Uncertain significance 913382 GRCh37: X:136653721-136653721
GRCh38: X:137571562-137571562
37 ZIC3 NM_003413.4(ZIC3):c.*1581G>A SNV Uncertain significance 913383 GRCh37: X:136653810-136653810
GRCh38: X:137571651-137571651
38 FANCB NM_001018113.3(FANCB):c.*151A>G SNV Uncertain significance 912396 GRCh37: X:14861538-14861538
GRCh38: X:14843416-14843416
39 ZIC3 NM_003413.4(ZIC3):c.*1171_*1173del Deletion Uncertain significance 367958 rs1057515786 GRCh37: X:136653400-136653402
GRCh38: X:137571241-137571243
40 FANCB NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro) SNV Uncertain significance 913590 GRCh37: X:14883437-14883437
GRCh38: X:14865315-14865315
41 FANCB NM_001018113.3(FANCB):c.183C>T (p.Ser61=) SNV Uncertain significance 913591 GRCh37: X:14883450-14883450
GRCh38: X:14865328-14865328
42 FANCB NM_001018113.3(FANCB):c.-232G>A SNV Likely benign 368039 rs756766337 GRCh37: X:14891148-14891148
GRCh38: X:14873026-14873026
43 FANCB NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) SNV Likely benign 572694 rs140363445 GRCh37: X:14861927-14861927
GRCh38: X:14843805-14843805
44 ZIC3 NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) SNV Likely benign 11439 rs104894963 GRCh37: X:136649499-136649499
GRCh38: X:137567340-137567340
45 FANCB NM_001018113.3(FANCB):c.402A>G (p.Leu134=) SNV Likely benign 368032 rs147260208 GRCh37: X:14883231-14883231
GRCh38: X:14865109-14865109
46 FANCB NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) SNV Likely benign 368023 rs148560784 GRCh37: X:14863088-14863088
GRCh38: X:14844966-14844966
47 FANCB NM_001018113.3(FANCB):c.-173G>C SNV Benign 368036 rs2188383 GRCh37: X:14887147-14887147
GRCh38: X:14869025-14869025
48 FANCB NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) SNV Benign 695272 rs184796918 GRCh37: X:14862803-14862803
GRCh38: X:14844681-14844681
49 FANCB NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) SNV Benign 368025 rs772802668 GRCh37: X:14871177-14871177
GRCh38: X:14853055-14853055
50 ZIC3 NM_003413.4(ZIC3):c.*489A>G SNV Benign 367956 rs183286584 GRCh37: X:136652718-136652718
GRCh38: X:137570559-137570559

UniProtKB/Swiss-Prot genetic disease variations for Vacterl Association, X-Linked, with or Without Hydrocephalus:

72
# Symbol AA change Variation ID SNP ID
1 ZIC3 p.His318Asn VAR_071333

Copy number variations for Vacterl Association, X-Linked, with or Without Hydrocephalus from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 105774 16 82700000 87200000 Microdeletions FOXF1 VACTERL syndrome
2 105775 16 82700000 88827254 Deletions or mutations VACTERL syndrome
3 105777 16 82700000 88827254 Deletions or mutations VACTERL syndrome

Expression for Vacterl Association, X-Linked, with or Without Hydrocephalus

Search GEO for disease gene expression data for Vacterl Association, X-Linked, with or Without Hydrocephalus.

Pathways for Vacterl Association, X-Linked, with or Without Hydrocephalus

Pathways related to Vacterl Association, X-Linked, with or Without Hydrocephalus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.59 FANCL FANCB

GO Terms for Vacterl Association, X-Linked, with or Without Hydrocephalus

Cellular components related to Vacterl Association, X-Linked, with or Without Hydrocephalus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Fanconi anaemia nuclear complex GO:0043240 8.62 FANCL FANCB

Biological processes related to Vacterl Association, X-Linked, with or Without Hydrocephalus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 determination of left/right symmetry GO:0007368 9.16 ZIC3 IFT172
2 interstrand cross-link repair GO:0036297 8.96 FANCL FANCB
3 heart looping GO:0001947 8.8 ZIC3 TBX6 IFT172

Sources for Vacterl Association, X-Linked, with or Without Hydrocephalus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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