MCID: VCT005
MIFTS: 24

Vacterl Association, X-Linked, with or Without Hydrocephalus

Categories: Genetic 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 73
Vacterl Association, X-Linked 57 13
Vacterlx 57 75
Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies 75
Vacterl Association X-Linked with or Without Hydrocephalus 75
Vacterl Association with Hydrocephalus 73
Vacterl-H, X-Linked 57
Vacterl Association 73
X-Linked Vacterl-H 75
Vacterl Syndrome 75

Characteristics:

OMIM:

57
Miscellaneous:
variable phenotype

Inheritance:
x-linked recessive


HPO:

32
vacterl association, x-linked, with or without hydrocephalus:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 hydrocephaly, x-linked and vacterl association with hydrocephalus. 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 urethral atresia and enlarged kidney

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)

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:

# Related Disease Score Top Affiliating Genes
1 vacterl association with hydrocephaly, x-linked 11.4
2 vacterl association with hydrocephalus 11.4
3 vater/vacterl association 11.0
4 fanconi anemia, complementation group b 10.9
5 neuroblastoma 9.7
6 sacral defect with anterior meningocele 9.7
7 ventricular septal defect 9.7
8 adrenal neuroblastoma 9.7
9 congenital achiasma 9.7

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 urethral atresia 32 HP:0000068
2 enlarged kidney 32 HP:0000105
3 hydronephrosis 32 HP:0000126
4 hydrocephalus 32 HP:0000238
5 abnormality of the vertebral column 32 HP:0000925
6 hand polydactyly 32 HP:0001161
7 transposition of the great arteries 32 HP:0001669
8 anal atresia 32 HP:0002023
9 tracheoesophageal fistula 32 HP:0002575
10 abnormal vertebral morphology 32 HP:0003468
11 absent radius 32 HP:0003974
12 short humerus 32 HP:0005792
13 atrioventricular canal defect 32 HP:0006695
14 proximal placement of thumb 32 HP:0009623
15 abnormality of cardiovascular system morphology 32 HP:0030680

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:

41
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 inA 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:

75
# 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 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZIC3 NM_003413.3(ZIC3): c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla) insertion Pathogenic rs398122850 GRCh37 Chromosome X, 136649015: 136649016
2 ZIC3 NM_003413.3(ZIC3): c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla) insertion Pathogenic rs398122850 GRCh38 Chromosome X, 137566856: 137566857
3 ZIC3 NM_003413.3(ZIC3): c.49G> T (p.Gly17Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147232392 GRCh37 Chromosome X, 136648899: 136648899
4 ZIC3 NM_003413.3(ZIC3): c.49G> T (p.Gly17Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147232392 GRCh38 Chromosome X, 137566740: 137566740
5 ZIC3 NM_003413.3(ZIC3): c.131C> G (p.Thr44Ser) single nucleotide variant Likely benign rs78870836 GRCh37 Chromosome X, 136648981: 136648981
6 ZIC3 NM_003413.3(ZIC3): c.131C> G (p.Thr44Ser) single nucleotide variant Likely benign rs78870836 GRCh38 Chromosome X, 137566822: 137566822
7 ZIC3 NM_003413.3(ZIC3): c.*1540G> A single nucleotide variant Likely benign rs184855783 GRCh37 Chromosome X, 136653769: 136653769
8 ZIC3 NM_003413.3(ZIC3): c.*1540G> A single nucleotide variant Likely benign rs184855783 GRCh38 Chromosome X, 137571610: 137571610
9 ZIC3 NM_003413.3(ZIC3): c.-479C> T single nucleotide variant Uncertain significance rs1022475218 GRCh37 Chromosome X, 136648372: 136648372
10 ZIC3 NM_003413.3(ZIC3): c.-479C> T single nucleotide variant Uncertain significance rs1022475218 GRCh38 Chromosome X, 137566213: 137566213
11 ZIC3 NM_003413.3(ZIC3): c.906C> T (p.Cys302=) single nucleotide variant Likely benign rs779221820 GRCh37 Chromosome X, 136649756: 136649756
12 ZIC3 NM_003413.3(ZIC3): c.906C> T (p.Cys302=) single nucleotide variant Likely benign rs779221820 GRCh38 Chromosome X, 137567597: 137567597
13 ZIC3 NM_003413.3(ZIC3): c.*1189A> G single nucleotide variant Likely benign rs41300285 GRCh37 Chromosome X, 136653418: 136653418
14 ZIC3 NM_003413.3(ZIC3): c.*1189A> G single nucleotide variant Likely benign rs41300285 GRCh38 Chromosome X, 137571259: 137571259
15 ZIC3 NM_003413.3(ZIC3): c.*1237A> T single nucleotide variant Uncertain significance rs772508899 GRCh37 Chromosome X, 136653466: 136653466
16 ZIC3 NM_003413.3(ZIC3): c.*1237A> T single nucleotide variant Uncertain significance rs772508899 GRCh38 Chromosome X, 137571307: 137571307
17 ZIC3 NM_003413.3(ZIC3): c.*2024G> C single nucleotide variant Likely benign rs113057036 GRCh37 Chromosome X, 136654253: 136654253
18 ZIC3 NM_003413.3(ZIC3): c.*2024G> C single nucleotide variant Likely benign rs113057036 GRCh38 Chromosome X, 137572094: 137572094
19 ZIC3 NM_003413.3(ZIC3): c.*489A> G single nucleotide variant Likely benign rs183286584 GRCh37 Chromosome X, 136652718: 136652718
20 ZIC3 NM_003413.3(ZIC3): c.*489A> G single nucleotide variant Likely benign rs183286584 GRCh38 Chromosome X, 137570559: 137570559
21 ZIC3 NM_003413.3(ZIC3): c.*1171_*1173delTTT deletion Uncertain significance rs1057515786 GRCh37 Chromosome X, 136653400: 136653402
22 ZIC3 NM_003413.3(ZIC3): c.*1171_*1173delTTT deletion Uncertain significance rs1057515786 GRCh38 Chromosome X, 137571241: 137571243
23 ZIC3 NM_003413.3(ZIC3): c.*41A> G single nucleotide variant Likely benign rs12387258 GRCh37 Chromosome X, 136652270: 136652270
24 ZIC3 NM_003413.3(ZIC3): c.*41A> G single nucleotide variant Likely benign rs12387258 GRCh38 Chromosome X, 137570111: 137570111
25 ZIC3 NM_003413.3(ZIC3): c.*798_*802delTTTGT deletion Uncertain significance rs1057515785 GRCh37 Chromosome X, 136653027: 136653031
26 ZIC3 NM_003413.3(ZIC3): c.*798_*802delTTTGT deletion Uncertain significance rs1057515785 GRCh38 Chromosome X, 137570868: 137570872
27 ZIC3 NM_003413.3(ZIC3): c.*1715A> G single nucleotide variant Uncertain significance rs1057515787 GRCh37 Chromosome X, 136653944: 136653944
28 ZIC3 NM_003413.3(ZIC3): c.*1715A> G single nucleotide variant Uncertain significance rs1057515787 GRCh38 Chromosome X, 137571785: 137571785

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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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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