MCID: VTR012
MIFTS: 24

Vater Association with Macrocephaly and Ventriculomegaly

Categories: Genetic diseases

Aliases & Classifications for Vater Association with Macrocephaly and Ventriculomegaly

MalaCards integrated aliases for Vater Association with Macrocephaly and Ventriculomegaly:

Name: Vater Association with Macrocephaly and Ventriculomegaly 54 29 13
Vacterl Association with Hydrocephalus 24 71 29 69
Vacterl-H 24 71

Characteristics:

OMIM:

54
Inheritance:
? autosomal recessive


HPO:

32
vater association with macrocephaly and ventriculomegaly:
Mortality/Aging stillbirth


Classifications:



Summaries for Vater Association with Macrocephaly and Ventriculomegaly

OMIM : 54
VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects; see 192350. Cases of familial VACTERL with hydrocephalus (H) have been reported with suggestion of autosomal recessive or X-linked inheritance (see 314390). Other patients thought to have VACTERL-H, including 2 unrelated infants reported by Porteous et al. (1992), had been found to have Fanconi anemia (see 227650). Porteous et al. (1992) suggested that chromosomal breakage studies should be performed in all cases of VACTERL/VACTERL-H to rule out Fanconi anemia. Alter et al. (2007) noted that a VATER phenotype had been reported in Fanconi anemia of complementation groups A (227650), C (227645), D1 (605724), E (600901), F (603467), and G (614082). X-linked VACTERL-H is also associated with mutations in the FANCB gene (300515). (276950)

MalaCards based summary : Vater Association with Macrocephaly and Ventriculomegaly, also known as vacterl association with hydrocephalus, is related to vacterl association, x-linked and fanconi anemia, complementation group a, and has symptoms including hydrocephalus, respiratory failure and aqueductal stenosis. An important gene associated with Vater Association with Macrocephaly and Ventriculomegaly is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include heart.

UniProtKB/Swiss-Prot : 71 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

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

id Related Disease Score Top Affiliating Genes
1 vacterl association, x-linked 11.9
2 fanconi anemia, complementation group a 11.3
3 vacterl with hydrocephalus, fancb-related 11.1
4 vacterl association with hydrocephaly, x-linked 11.1
5 fanconi anemia, complementation group b 11.1
6 vater/vacterl association 11.0
7 hydrocephalus 9.9
8 vacterl association 9.9
9 baller-gerold syndrome 9.8

Graphical network of the top 20 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

Symptoms via clinical synopsis from OMIM:

54

Skel:
anal atresia
vertebral anomalies

Misc:
stillbirth/neonatal death

GU:
renal hypoplasia

GI:
t-e fistula
no anal atresia

Resp:
respiratory failure

Limbs:
absent thumbs
radial dysplasia

Cardiac:
congenital heart defect

Neuro:
aqueductal stenosis
hydrocephalus


Clinical features from OMIM:

276950

Human phenotypes related to Vater Association with Macrocephaly and Ventriculomegaly:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 respiratory failure 32 HP:0002878
3 aqueductal stenosis 32 HP:0002410
4 renal hypoplasia 32 HP:0000089
5 anal atresia 32 HP:0002023
6 absent thumb 32 HP:0009777
7 abnormality of the vertebrae 32 HP:0003468
8 abnormal heart morphology 32 HP:0001627

Drugs & Therapeutics for Vater Association with Macrocephaly and Ventriculomegaly

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

Genetic Tests for Vater Association with Macrocephaly and Ventriculomegaly

Genetic tests related to Vater Association with Macrocephaly and Ventriculomegaly:

id Genetic test Affiliating Genes
1 Vacterl Association with Hydrocephalus 29 24 PTEN
2 Vater Association with Macrocephaly and Ventriculomegaly 29

Anatomical Context for Vater Association with Macrocephaly and Ventriculomegaly

MalaCards organs/tissues related to Vater Association with Macrocephaly and Ventriculomegaly:

39
Heart

Publications for Vater Association with Macrocephaly and Ventriculomegaly

Variations for Vater Association with Macrocephaly and Ventriculomegaly

ClinVar genetic disease variations for Vater Association with Macrocephaly and Ventriculomegaly:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.181C> G (p.His61Asp) single nucleotide variant Pathogenic rs121909236 GRCh37 Chromosome 10, 89685286: 89685286

Expression for Vater Association with Macrocephaly and Ventriculomegaly

Search GEO for disease gene expression data for Vater Association with Macrocephaly and Ventriculomegaly.

Pathways for Vater Association with Macrocephaly and Ventriculomegaly

GO Terms for Vater Association with Macrocephaly and Ventriculomegaly

Sources for Vater Association with Macrocephaly and Ventriculomegaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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