VACTERLX
MCID: VCT007
MIFTS: 20

Vacterl Association, X-Linked (VACTERLX) malady

Categories: Genetic diseases

Aliases & Classifications for Vacterl Association, X-Linked

Aliases & Descriptions for Vacterl Association, X-Linked:

Name: Vacterl Association, X-Linked 54 13
Vacterl Association, X-Linked, with or Without Hydrocephalus 24 69
Vacterlx 24 66
Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies 66
Vacterl Association X-Linked with or Without Hydrocephalus 66
Vacterl Association with Hydrocephalus 69
Vacterl Association 69
Vacterl-H, X-Linked 24
X-Linked Vacterl-H 66
Vacterl Syndrome 66

Characteristics:

HPO:

32
vacterl association, x-linked:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 314390
MeSH 42 D000015

Summaries for Vacterl Association, X-Linked

UniProtKB/Swiss-Prot : 66 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 hydrocephalus, abnormality of the vertebrae and anal atresia. An important gene associated with Vacterl Association, X-Linked is ZIC3 (Zic Family Member 3). Affiliated tissues include kidney.

OMIM : 54 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

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

id Related Disease Score Top Affiliating Genes
1 vater association with macrocephaly and ventriculomegaly 11.3
2 vacterl association with hydrocephaly, x-linked 11.3
3 vacterl with hydrocephalus, fancb-related 11.3
4 vater/vacterl association 10.9
5 fanconi anemia, complementation group b 10.8
6 congenital achiasma 9.6
7 neuroblastoma 9.6
8 caudal regression syndrome 9.6
9 adrenal neuroblastoma 9.6

Graphical network of the top 20 diseases related to Vacterl Association, X-Linked:



Diseases related to Vacterl Association, X-Linked

Symptoms & Phenotypes for Vacterl Association, X-Linked

Symptoms by clinical synopsis from OMIM:

314390

Clinical features from OMIM:

314390

Human phenotypes related to Vacterl Association, X-Linked:

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

Drugs & Therapeutics for Vacterl Association, X-Linked

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

Genetic Tests for Vacterl Association, X-Linked

Genetic tests related to Vacterl Association, X-Linked:

id Genetic test Affiliating Genes
1 Vacterl Association, X-Linked, with or Without Hydrocephalus 24 ZIC3

Anatomical Context for Vacterl Association, X-Linked

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

39
Kidney

Publications for Vacterl Association, X-Linked

Variations for Vacterl Association, X-Linked

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

66
id Symbol AA change Variation ID SNP ID
1 ZIC3 p.His318Asn VAR_071333

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

6
id 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

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

7
id 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

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

Pathways for Vacterl Association, X-Linked

GO Terms for Vacterl Association, X-Linked

Sources for Vacterl Association, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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