MCID: VTR012
MIFTS: 19

Vater Association with Macrocephaly and Ventriculomegaly malady

Category: Genetic diseases (common)

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 67 24 65
 
Vacterl-H 22 67

Characteristics:

HPO:

61
vater association with macrocephaly and ventriculomegaly:
Mortality/Aging: stillbirth


Classifications:



External Ids:

OMIM49 276950
UMLS65 C1848599

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 vacterl association with hydrocephaly, x-linked, and has symptoms including abnormality of cardiovascular system morphology, absent thumb and abnormality of the vertebrae. An important gene associated with Vater Association with Macrocephaly and Ventriculomegaly is PTEN (Phosphatase And Tensin Homolog).

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:

idRelated DiseaseScoreTop Affiliating Genes
1vacterl association, x-linked11.2
2vacterl association with hydrocephaly, x-linked11.2
3vacterl hydrocephaly11.2
4vacterl with hydrocephalus, fancb-related11.2
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

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 8)
id Description Frequency HPO Source Accession
1 abnormality of cardiovascular system morphology HP:0030680
2 absent thumb HP:0009777
3 abnormality of the vertebrae HP:0003468
4 respiratory failure HP:0002878
5 aqueductal stenosis HP:0002410
6 anal atresia HP:0002023
7 hydrocephalus HP:0000238
8 renal hypoplasia HP:0000089

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 PTEN

Anatomical Context for Vater Association with Macrocephaly and Ventriculomegaly

About this section

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