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 52 12
Vacterl Association, X-Linked, with or Without Hydrocephalus 24 68
Vacterlx 24 70
Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies 70
Vacterl Association X-Linked with or Without Hydrocephalus 70
 
Vacterl Association with Hydrocephalus 68
Vacterl Association 68
Vacterl-H, X-Linked 24
X-Linked Vacterl-H 70
Vacterl Syndrome 70

Classifications:



External Ids:

OMIM52 314390
MeSH39 D000015

Summaries for Vacterl Association, X-Linked

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UniProtKB/Swiss-Prot:70 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 vater association with macrocephaly and ventriculomegaly and vacterl association with hydrocephaly, x-linked, 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:52 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
1vater association with macrocephaly and ventriculomegaly11.3
2vacterl association with hydrocephaly, x-linked11.3
3vacterl with hydrocephalus, fancb-related11.3
4vater/vacterl association10.9
5fanconi anemia, complementation group b10.8
6neuroblastoma9.6
7caudal regression syndrome9.6
8adrenal neuroblastoma9.6
9congenital achiasma9.6

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



Diseases related to vacterl association, x-linked

Symptoms & Phenotypes for Vacterl Association, X-Linked

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Symptoms by clinical synopsis from OMIM:

314390

Clinical features from OMIM:

314390

Human phenotypes related to Vacterl Association, X-Linked:

 64 (show all 11)
id Description HPO Frequency HPO Source Accession
1 urethral atresia64 HP:0000068
2 hydronephrosis64 HP:0000126
3 hydrocephalus64 HP:0000238
4 hand polydactyly64 HP:0001161
5 anal atresia64 HP:0002023
6 tracheoesophageal fistula64 HP:0002575
7 abnormality of the vertebrae64 HP:0003468
8 absent radius64 HP:0003974
9 short humerus64 HP:0005792
10 proximal placement of thumb64 HP:0009623
11 abnormality of cardiovascular system morphology64 HP:0030680

UMLS symptoms related to Vacterl Association, X-Linked:


cardiovascular symptoms, mass of upper limb, mass of lower limb, musculoskeletal and connective tissue signs and symptoms nec, vascular pain, chest wall necrosis, trendelenburg's symptom, extremity contracture, musculoskeletal stiffness, pseudothrombophlebitis

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 Hydrocephalus24 ZIC3

Anatomical Context for Vacterl Association, X-Linked

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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:

70
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

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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet