MCID: VTR012
MIFTS: 25

Vater Association with Macrocephaly and Ventriculomegaly malady

Genetic diseases (common) category

Aliases & Classifications for Vater Association with Macrocephaly and Ventriculomegaly

About this section

Aliases & Descriptions for Vater Association with Macrocephaly and Ventriculomegaly:

Name: Vater Association with Macrocephaly and Ventriculomegaly 49 11 24
Vacterl Association with Hydrocephalus 22 24 65 67
 
Vacterl-H 22 67


Classifications:



External Ids:

OMIM49 276950

Summaries for Vater Association with Macrocephaly and Ventriculomegaly

About this section
OMIM:49 VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital... (276950) more...

MalaCards based summary: Vater Association with Macrocephaly and Ventriculomegaly, also known as vacterl association with hydrocephalus, is related to vacterl association, x-linked and hydrocephalus, and has symptoms including renal hypoplasia, hydrocephalus and anal atresia. An important gene associated with Vater Association with Macrocephaly and Ventriculomegaly is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include heart.

UniProtKB/Swiss-Prot:67 VACTERL association with hydrocephalus: VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.

Related Diseases for Vater Association with Macrocephaly and Ventriculomegaly

About this section

Diseases related to Vater Association with Macrocephaly and Ventriculomegaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1vacterl association, x-linked10.5
2hydrocephalus10.4
3vacterl association10.4
4fanconi anemia, complementation group a10.4
5baller-gerold syndrome10.3
6fanconi anemia, complementation group b10.2
7hypothyroidism10.2
8heterotaxy10.2
9sirenomelia10.2
10vacterl association with hydrocephaly, x-linked10.2
11triphalangeal thumb10.2
12vacterl with hydrocephalus, fancb-related10.2

Graphical network of diseases related to Vater Association with Macrocephaly and Ventriculomegaly:



Diseases related to vater association with macrocephaly and ventriculomegaly

Symptoms for Vater Association with Macrocephaly and Ventriculomegaly

About this section

Symptoms by clinical synopsis from OMIM:

276950

Clinical features from OMIM:

276950

HPO human phenotypes related to Vater Association with Macrocephaly and Ventriculomegaly:

(show all 9)
id Description Frequency HPO Source Accession
1 renal hypoplasia HP:0000089
2 hydrocephalus HP:0000238
3 anal atresia HP:0002023
4 aqueductal stenosis HP:0002410
5 malformation of the heart and great vessels HP:0002564
6 respiratory failure HP:0002878
7 abnormality of the vertebrae HP:0003468
8 stillbirth HP:0003826
9 absent thumb HP:0009777

Drugs & Therapeutics for Vater Association with Macrocephaly and Ventriculomegaly

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Vater Association with Macrocephaly and Ventriculomegaly

Genetic Tests for Vater Association with Macrocephaly and Ventriculomegaly

About this section

Genetic tests related to Vater Association with Macrocephaly and Ventriculomegaly:

id Genetic test Affiliating Genes
1 Vacterl Association with Hydrocephalus22 24 PTEN
2 Vater Association with Macrocephaly and Ventriculomegaly24

Anatomical Context for Vater Association with Macrocephaly and Ventriculomegaly

About this section

MalaCards organs/tissues related to Vater Association with Macrocephaly and Ventriculomegaly:

33
Heart

Animal Models for Vater Association with Macrocephaly and Ventriculomegaly or affiliated genes

About this section

Publications for Vater Association with Macrocephaly and Ventriculomegaly

About this section

Variations for Vater Association with Macrocephaly and Ventriculomegaly

About this section

Expression for genes affiliated with Vater Association with Macrocephaly and Ventriculomegaly

About this section
Search GEO for disease gene expression data for Vater Association with Macrocephaly and Ventriculomegaly.

Pathways for genes affiliated with Vater Association with Macrocephaly and Ventriculomegaly

About this section

GO Terms for genes affiliated with Vater Association with Macrocephaly and Ventriculomegaly

About this section

Sources for Vater Association with Macrocephaly and Ventriculomegaly

About this section
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