MCID: VTR012
MIFTS: 21

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 51 26 12
Vacterl Association with Hydrocephalus 24 69 26 67
 
Vacterl-H 24 69

Characteristics:

HPO:

63
vater association with macrocephaly and ventriculomegaly:
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM51 276950

Summaries for Vater Association with Macrocephaly and Ventriculomegaly

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OMIM:51 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 association with hydrocephaly, x-linked, 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:69 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-linked11.1
2vacterl association with hydrocephaly, x-linked11.1
3vacterl hydrocephaly11.1
4vater/vacterl association11.0
5hydrocephalus9.9
6baller-gerold syndrome9.8

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

Human phenotypes related to Vater Association with Macrocephaly and Ventriculomegaly:

 63 (show all 8)
id Description HPO Frequency HPO Source Accession
1 renal hypoplasia63 HP:0000089
2 hydrocephalus63 HP:0000238
3 anal atresia63 HP:0002023
4 aqueductal stenosis63 HP:0002410
5 respiratory failure63 HP:0002878
6 abnormality of the vertebrae63 HP:0003468
7 absent thumb63 HP:0009777
8 abnormality of cardiovascular system morphology63 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 Hydrocephalus26 24 PTEN
2 Vater Association with Macrocephaly and Ventriculomegaly26

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet