MCID: VTR012
MIFTS: 22

Vater Association with Macrocephaly and Ventriculomegaly malady

Category: Genetic diseases (common)

Aliases & Classifications for Vater Association with Macrocephaly and Ventriculomegaly

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Aliases & Descriptions for Vater Association with Macrocephaly and Ventriculomegaly:

Name: Vater Association with Macrocephaly and Ventriculomegaly 50 25 12
Vacterl Association with Hydrocephalus 23 68 25 66
 
Vacterl-H 23 68

Characteristics:

HPO:

62
vater association with macrocephaly and ventriculomegaly:
Mortality/Aging: stillbirth


Classifications:



External Ids:

OMIM50 276950

Summaries for Vater Association with Macrocephaly and Ventriculomegaly

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OMIM:50 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 vacterl hydrocephaly, 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).

UniProtKB/Swiss-Prot:68 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

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

idRelated DiseaseScoreTop Affiliating Genes
1vacterl association, x-linked11.7
2vacterl hydrocephaly11.2
3vacterl association with hydrocephaly, x-linked11.2
4vater/vacterl association10.1
5hydrocephalus10.0
6vacterl association10.0
7baller-gerold syndrome9.9

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

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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 8)
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 respiratory failure HP:0002878
6 abnormality of the vertebrae HP:0003468
7 absent thumb HP:0009777
8 abnormality of cardiovascular system morphology HP:0030680

Drugs & Therapeutics for Vater Association with Macrocephaly and Ventriculomegaly

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Interventional clinical trials:

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

Genetic Tests for Vater Association with Macrocephaly and Ventriculomegaly

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Genetic tests related to Vater Association with Macrocephaly and Ventriculomegaly:

id Genetic test Affiliating Genes
1 Vacterl Association with Hydrocephalus25 23 PTEN
2 Vater Association with Macrocephaly and Ventriculomegaly25

Anatomical Context for Vater Association with Macrocephaly and Ventriculomegaly

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

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Publications for Vater Association with Macrocephaly and Ventriculomegaly

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Variations for Vater Association with Macrocephaly and Ventriculomegaly

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Expression for genes affiliated with Vater Association with Macrocephaly and Ventriculomegaly

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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

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

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Sources for Vater Association with Macrocephaly and Ventriculomegaly

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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