MCID: VCT007
MIFTS: 19

Vacterl Association, X-Linked malady

Category: Genetic diseases (common)

Aliases & Classifications for Vacterl Association, X-Linked

About this section

Aliases & Descriptions for Vacterl Association, X-Linked:

Name: Vacterl Association, X-Linked 50 12
Vacterl Association, X-Linked, with or Without Hydrocephalus 23 66
Vacterlx 23 68
Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies 68
 
Vacterl Association X-Linked with or Without Hydrocephalus 68
Vacterl-H, X-Linked 23
X-Linked Vacterl-H 68
Vacterl Syndrome 68

Classifications:



External Ids:

OMIM50 314390
MeSH37 D000015

Summaries for Vacterl Association, X-Linked

About this section
UniProtKB/Swiss-Prot:68 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 urethral atresia, hydronephrosis and hydrocephalus. An important gene associated with Vacterl Association, X-Linked is ZIC3 (Zic Family Member 3).

OMIM:50 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

About this section

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-linked11.4
2vacterl with hydrocephalus, fancb-related11.4
3vater association with macrocephaly and ventriculomegaly10.4
4vater/vacterl association10.0
5fanconi anemia, complementation group b9.9
6neuroblastoma9.7
7caudal regression syndrome9.7
8adrenal neuroblastoma9.7
9congenital achiasma9.7

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



Diseases related to vacterl association, x-linked

Symptoms for Vacterl Association, X-Linked

About this section

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 tracheoesophageal fistula HP:0002575
7 abnormality of the vertebrae HP:0003468
8 absent radius HP:0003974
9 short humerus HP:0005792
10 proximal placement of thumb HP:0009623
11 abnormality of cardiovascular system morphology HP:0030680

Drugs & Therapeutics for Vacterl Association, X-Linked

About this section

Interventional clinical trials:

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

Genetic Tests for Vacterl Association, X-Linked

About this section

Genetic tests related to Vacterl Association, X-Linked:

id Genetic test Affiliating Genes
1 Vacterl Association, X-Linked, with or Without Hydrocephalus23 ZIC3

Anatomical Context for Vacterl Association, X-Linked

About this section

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

About this section

Publications for Vacterl Association, X-Linked

About this section

Variations for Vacterl Association, X-Linked

About this section

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

68
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

Copy number variations for Vacterl Association, X-Linked from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1105774168270000087200000MicrodeletionsFOXF1VACTERL syndrome
2105775168270000088827254Deletions or mutatio nsFOXVACTERL syndrome
3105777168270000088827254Deletions or mutatio nstheVACTERL syndrome

Expression for genes affiliated with Vacterl Association, X-Linked

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

Pathways for genes affiliated with Vacterl Association, X-Linked

About this section

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

About this section

Sources for Vacterl Association, X-Linked

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet