MCID: VTR012
MIFTS: 23

Vater Association with Macrocephaly and Ventriculomegaly malady

Genetic diseases (common) category

Summaries for Vater Association with Macrocephaly and Ventriculomegaly

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OMIM:47 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 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.

Aliases & Classifications for Vater Association with Macrocephaly and Ventriculomegaly

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Vater Association with Macrocephaly and Ventriculomegaly, Aliases & Descriptions:

Name: Vater Association with Macrocephaly and Ventriculomegaly 47 11 24
 
Vacterl Association with Hydrocephalus 47 22 24


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM47 276950

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1vacterl association10.5
2hydrocephalus10.4
3baller-gerold syndrome10.3

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 malformation of the heart and great vessels HP:0002564
6 respiratory failure HP:0002878
7 abnormality of the vertebrae HP:0003468
8 absent thumb HP:0009777

Drugs & Therapeutics for Vater Association with Macrocephaly and Ventriculomegaly

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Drug clinical trials:

Search ClinicalTrials for Vater Association with Macrocephaly and Ventriculomegaly

Search 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 Hydrocephalus22 24 PTEN
2 Vater Association with Macrocephaly and Ventriculomegaly24

Anatomical Context for Vater Association with Macrocephaly and Ventriculomegaly

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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

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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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Compounds 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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Products 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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet