MCID: VCT007
MIFTS: 20

Vacterl Association, X-Linked malady

Category: Genetic diseases (common)

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
Vacterl Association, X-Linked, with or Without Hydrocephalus 22 65
Vacterlx 22 67
Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies 67
Vacterl Association X-Linked with or Without Hydrocephalus 67
 
Vacterl Association with Hydrocephalus 65
Vacterl Association 65
Vacterl-H, X-Linked 22
X-Linked Vacterl-H 67
Vacterl Syndrome 67

Classifications:



External Ids:

OMIM49 314390
MeSH36 D000015
UMLS65 C1848599, C2931228, C1735591

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 vacterl association, x-linked, with or without hydrocephalus, is related to vacterl association with hydrocephaly, x-linked and vacterl with hydrocephalus, fancb-related, and has symptoms including abnormality of cardiovascular system morphology, proximal placement of thumb and short humerus. An important gene associated with Vacterl Association, X-Linked is ZIC3 (Zic Family Member 3).

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:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1vacterl association with hydrocephaly, x-linked11.8
2vacterl with hydrocephalus, fancb-related11.8
3vater association with macrocephaly and ventriculomegaly10.8
4fanconi anemia, complementation group b10.3
5chronic lymphocytic leukemia10.0
6glomerulonephritis10.0
7leukemia10.0
8membranous glomerulonephritis10.0
9prostatitis10.0
10adenocarcinoma10.0
11leishmaniasis10.0
12visceral leishmaniasis10.0

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 abnormality of cardiovascular system morphology HP:0030680
2 proximal placement of thumb HP:0009623
3 short humerus HP:0005792
4 absent radius HP:0003974
5 abnormality of the vertebrae HP:0003468
6 tracheoesophageal fistula HP:0002575
7 anal atresia HP:0002023
8 hand polydactyly HP:0001161
9 hydrocephalus HP:0000238
10 hydronephrosis HP:0000126
11 urethral atresia HP:0000068

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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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.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