MCID: VCT007
MIFTS: 23

Vacterl Association, X-Linked malady

Genetic diseases (common) category

Aliases & Classifications for Vacterl Association, X-Linked

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Aliases & Descriptions for Vacterl Association, X-Linked:

Name: Vacterl Association, X-Linked 49 11
Vacterlx 22 67
Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies 67
Vacterl Association, X-Linked, with or Without Hydrocephalus 22
 
Vacterl Association X-Linked with or Without Hydrocephalus 67
X-Linked Vacterl-H Syndrome 22
X-Linked Vacterl-H 67
Vacterl Syndrome 67


Classifications:



External Ids:

OMIM49 314390
MeSH36 D000015

Summaries for Vacterl Association, X-Linked

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UniProtKB/Swiss-Prot:67 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, also known as vacterlx, is related to vacterl association with hydrocephaly, x-linked and vacterl with hydrocephalus, fancb-related, and has symptoms including urethral atresia, hydronephrosis and hydrocephalus. An important gene associated with Vacterl Association, X-Linked is ZIC3 (Zic Family Member 3). Affiliated tissues include heart.

OMIM:49 VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac... (314390) more...

Related Diseases for Vacterl Association, X-Linked

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Diseases related to Vacterl Association, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1vacterl association with hydrocephaly, x-linked10.4
2vacterl with hydrocephalus, fancb-related10.4
3vater association with macrocephaly and ventriculomegaly10.3
4neuroblastoma10.0
5caudal regression syndrome10.0
6fanconi anemia, complementation group b10.0
7adrenal neuroblastoma10.0
8congenital achiasma10.0

Graphical network of diseases related to Vacterl Association, X-Linked:



Diseases related to vacterl association, x-linked

Symptoms for Vacterl Association, X-Linked

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Symptoms by clinical synopsis from OMIM:

314390

Clinical features from OMIM:

314390

HPO human phenotypes related to Vacterl Association, X-Linked:

(show all 11)
id Description Frequency HPO Source Accession
1 urethral atresia HP:0000068
2 hydronephrosis HP:0000126
3 hydrocephalus HP:0000238
4 hand polydactyly HP:0001161
5 anal atresia HP:0002023
6 malformation of the heart and great vessels HP:0002564
7 tracheoesophageal fistula HP:0002575
8 abnormality of the vertebrae HP:0003468
9 absent radius HP:0003974
10 short humerus HP:0005792
11 proximal placement of thumb HP:0009623

Drugs & Therapeutics for Vacterl Association, X-Linked

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Vacterl Association, X-Linked

Genetic Tests for Vacterl Association, X-Linked

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Genetic tests related to Vacterl Association, X-Linked:

id Genetic test Affiliating Genes
1 Vacterl Association, X-Linked, with or Without Hydrocephalus22 ZIC3

Anatomical Context for Vacterl Association, X-Linked

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MalaCards organs/tissues related to Vacterl Association, X-Linked:

33
Heart

Animal Models for Vacterl Association, X-Linked or affiliated genes

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Publications for Vacterl Association, X-Linked

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Variations for Vacterl Association, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Vacterl Association, X-Linked:

67
id Symbol AA change Variation ID SNP ID
1ZIC3p.His318AsnVAR_071333

Clinvar genetic disease variations for Vacterl Association, X-Linked:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ZIC3NM_003413.3(ZIC3): c.49G> T (p.Gly17Cys)single nucleotide variantPathogenicrs147232392GRCh38Chr X, 137566740: 137566740
2ZIC3NM_003413.3(ZIC3): c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla)insertionPathogenicrs398122850GRCh37Chr X, 136649015: 136649016

Expression for genes affiliated with Vacterl Association, X-Linked

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Search GEO for disease gene expression data for Vacterl Association, X-Linked.

Pathways for genes affiliated with Vacterl Association, X-Linked

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GO Terms for genes affiliated with Vacterl Association, X-Linked

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Sources for Vacterl Association, X-Linked

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet