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 52 27 12
Vacterl Association with Hydrocephalus 24 70 27 68
 
Vacterl-H 24 70

Characteristics:

HPO:

64
vater association with macrocephaly and ventriculomegaly:
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM52 276950

Summaries for Vater Association with Macrocephaly and Ventriculomegaly

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OMIM:52 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:70 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 & Phenotypes 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:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 renal hypoplasia64 HP:0000089
2 hydrocephalus64 HP:0000238
3 anal atresia64 HP:0002023
4 aqueductal stenosis64 HP:0002410
5 respiratory failure64 HP:0002878
6 abnormality of the vertebrae64 HP:0003468
7 absent thumb64 HP:0009777
8 abnormality of cardiovascular system morphology64 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 Hydrocephalus27 24 PTEN
2 Vater Association with Macrocephaly and Ventriculomegaly27

Anatomical Context for Vater Association with Macrocephaly and Ventriculomegaly

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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
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