VACTERLX
MCID: VCT005
MIFTS: 24

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 58 74
Vacterl Association, X-Linked 58 13
Vacterlx 58 76
Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies 76
Vacterl Association X-Linked with or Without Hydrocephalus 76
Vacterl Association with Hydrocephalus 74
Vacterl-H, X-Linked 58
Vacterl Association 74
X-Linked Vacterl-H 76
Vacterl Syndrome 76

Characteristics:

OMIM:

58
Miscellaneous:
variable phenotype

Inheritance:
x-linked recessive


HPO:

33
vacterl association, x-linked, with or without hydrocephalus:
Inheritance x-linked recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 vacterl association, x-linked, is related to vacterl association with hydrocephalus and vacterl association with hydrocephaly, x-linked. An important gene associated with Vacterl Association, X-Linked, with or Without Hydrocephalus is ZIC3 (Zic Family Member 3). Affiliated tissues include kidney, and related phenotypes are hydrocephalus and abnormal vertebral morphology

OMIM : 58 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)

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 all 14)
# Related Disease Score Top Affiliating Genes
1 vacterl association with hydrocephalus 11.9
2 vacterl association with hydrocephaly, x-linked 11.6
3 vater/vacterl association 11.2
4 fanconi anemia, complementation group b 11.1
5 vacterl association 11.1
6 hydrocephalus 10.2
7 vacterl with hydrocephalus 10.2
8 wilms tumor 1 9.8
9 lung agenesis 9.8
10 sacral defect with anterior meningocele 9.8
11 ventricular septal defect 9.8
12 adrenal neuroblastoma 9.8
13 pathologic nystagmus 9.8
14 congenital achiasma 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:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 33 HP:0000238
2 abnormal vertebral morphology 33 HP:0003468
3 anal atresia 33 HP:0002023
4 hand polydactyly 33 HP:0001161
5 tracheoesophageal fistula 33 HP:0002575
6 proximal placement of thumb 33 HP:0009623
7 hydronephrosis 33 HP:0000126
8 urethral atresia 33 HP:0000068
9 atrioventricular canal defect 33 HP:0006695
10 enlarged kidney 33 HP:0000105
11 abnormality of cardiovascular system morphology 33 HP:0030680
12 abnormality of the vertebral column 33 HP:0000925
13 transposition of the great arteries 33 HP:0001669
14 absent radius 33 HP:0003974
15 short humerus 33 HP:0005792
16 isomerism 33 HP:0031853

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hydrocephalus

Respiratory Airways:
tracheoesophageal fistula

Genitourinary Bladder:
urethral atresia

Skeletal Spine:
vertebral anomalies

Skeletal Hands:
hexadactyly
proximally placed thumb

Abdomen Gastrointestinal:
anal atresia
tracheoesophageal fistula
imperforate anus

Genitourinary Kidneys:
hydronephrosis
enlarged kidneys

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

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

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

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

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

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

42
Kidney

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

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

# Title Authors Year
1
VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer. ( 24411047 )
2013
2
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. ( 8741921 )
1996

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

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

76
# Symbol AA change Variation ID SNP ID
1 ZIC3 p.His318Asn VAR_071333

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

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZIC3 NM_003413.3(ZIC3): c.649C> G (p.Pro217Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs104894963 GRCh37 Chromosome X, 136649499: 136649499
2 ZIC3 NM_003413.3(ZIC3): c.649C> G (p.Pro217Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs104894963 GRCh38 Chromosome X, 137567340: 137567340
3 ZIC3 NM_003413.3(ZIC3): c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla) insertion Pathogenic rs398122850 GRCh37 Chromosome X, 136649015: 136649016
4 ZIC3 NM_003413.3(ZIC3): c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla) insertion Pathogenic rs398122850 GRCh38 Chromosome X, 137566856: 137566857
5 ZIC3 NM_003413.3(ZIC3): c.49G> T (p.Gly17Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147232392 GRCh37 Chromosome X, 136648899: 136648899
6 ZIC3 NM_003413.3(ZIC3): c.49G> T (p.Gly17Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147232392 GRCh38 Chromosome X, 137566740: 137566740
7 ZIC3 NM_003413.3(ZIC3): c.131C> G (p.Thr44Ser) single nucleotide variant Likely benign rs78870836 GRCh37 Chromosome X, 136648981: 136648981
8 ZIC3 NM_003413.3(ZIC3): c.131C> G (p.Thr44Ser) single nucleotide variant Likely benign rs78870836 GRCh38 Chromosome X, 137566822: 137566822
9 ZIC3 NM_003413.3(ZIC3): c.*1540G> A single nucleotide variant Likely benign rs184855783 GRCh37 Chromosome X, 136653769: 136653769
10 ZIC3 NM_003413.3(ZIC3): c.*1540G> A single nucleotide variant Likely benign rs184855783 GRCh38 Chromosome X, 137571610: 137571610
11 ZIC3 NM_003413.3(ZIC3): c.-479C> T single nucleotide variant Uncertain significance rs1022475218 GRCh37 Chromosome X, 136648372: 136648372
12 ZIC3 NM_003413.3(ZIC3): c.-479C> T single nucleotide variant Uncertain significance rs1022475218 GRCh38 Chromosome X, 137566213: 137566213
13 ZIC3 NM_003413.3(ZIC3): c.906C> T (p.Cys302=) single nucleotide variant Likely benign rs779221820 GRCh37 Chromosome X, 136649756: 136649756
14 ZIC3 NM_003413.3(ZIC3): c.906C> T (p.Cys302=) single nucleotide variant Likely benign rs779221820 GRCh38 Chromosome X, 137567597: 137567597
15 ZIC3 NM_003413.3(ZIC3): c.*1189A> G single nucleotide variant Likely benign rs41300285 GRCh37 Chromosome X, 136653418: 136653418
16 ZIC3 NM_003413.3(ZIC3): c.*1189A> G single nucleotide variant Likely benign rs41300285 GRCh38 Chromosome X, 137571259: 137571259
17 ZIC3 NM_003413.3(ZIC3): c.*1237A> T single nucleotide variant Uncertain significance rs772508899 GRCh37 Chromosome X, 136653466: 136653466
18 ZIC3 NM_003413.3(ZIC3): c.*1237A> T single nucleotide variant Uncertain significance rs772508899 GRCh38 Chromosome X, 137571307: 137571307
19 ZIC3 NM_003413.3(ZIC3): c.*2024G> C single nucleotide variant Likely benign rs113057036 GRCh37 Chromosome X, 136654253: 136654253
20 ZIC3 NM_003413.3(ZIC3): c.*2024G> C single nucleotide variant Likely benign rs113057036 GRCh38 Chromosome X, 137572094: 137572094
21 ZIC3 NM_003413.3(ZIC3): c.*489A> G single nucleotide variant Likely benign rs183286584 GRCh37 Chromosome X, 136652718: 136652718
22 ZIC3 NM_003413.3(ZIC3): c.*489A> G single nucleotide variant Likely benign rs183286584 GRCh38 Chromosome X, 137570559: 137570559
23 ZIC3 NM_003413.3(ZIC3): c.*1171_*1173delTTT deletion Uncertain significance rs1057515786 GRCh37 Chromosome X, 136653400: 136653402
24 ZIC3 NM_003413.3(ZIC3): c.*1171_*1173delTTT deletion Uncertain significance rs1057515786 GRCh38 Chromosome X, 137571241: 137571243
25 ZIC3 NM_003413.3(ZIC3): c.*41A> G single nucleotide variant Likely benign rs12387258 GRCh37 Chromosome X, 136652270: 136652270
26 ZIC3 NM_003413.3(ZIC3): c.*41A> G single nucleotide variant Likely benign rs12387258 GRCh38 Chromosome X, 137570111: 137570111
27 ZIC3 NM_003413.3(ZIC3): c.*798_*802delTTTGT deletion Uncertain significance rs899320157 GRCh37 Chromosome X, 136653027: 136653031
28 ZIC3 NM_003413.3(ZIC3): c.*798_*802delTTTGT deletion Uncertain significance rs899320157 GRCh38 Chromosome X, 137570868: 137570872
29 ZIC3 NM_003413.3(ZIC3): c.*1715A> G single nucleotide variant Uncertain significance rs1057515787 GRCh37 Chromosome X, 136653944: 136653944
30 ZIC3 NM_003413.3(ZIC3): c.*1715A> G single nucleotide variant Uncertain significance rs1057515787 GRCh38 Chromosome X, 137571785: 137571785
31 FANCB NM_001018113.2(FANCB): c.1720T> A (p.Cys574Ser) single nucleotide variant Uncertain significance rs200303151 GRCh37 Chromosome X, 14863185: 14863185
32 FANCB NM_001018113.2(FANCB): c.1720T> A (p.Cys574Ser) single nucleotide variant Uncertain significance rs200303151 GRCh38 Chromosome X, 14845063: 14845063
33 FANCB NM_001018113.2(FANCB): c.199A> G (p.Ile67Val) single nucleotide variant Uncertain significance rs761346761 GRCh38 Chromosome X, 14865312: 14865312
34 FANCB NM_001018113.2(FANCB): c.199A> G (p.Ile67Val) single nucleotide variant Uncertain significance rs761346761 GRCh37 Chromosome X, 14883434: 14883434

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

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 105774 16 82700000 87200000 Microdeletions FOXF1 VACTERL syndrome
2 105775 16 82700000 88827254 Deletions or mutatio ns FOX VACTERL syndrome
3 105777 16 82700000 88827254 Deletions or mutatio ns the 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

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

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

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