MCID: VTR012
MIFTS: 18

Vater Association with Macrocephaly and Ventriculomegaly malady

Neuronal, Fetal categories

Summaries for Vater Association with Macrocephaly and Ventriculomegaly

Sources:
47OMIM, 33MalaCards
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MalaCards: Vater Association with Macrocephaly and Ventriculomegaly, also known as vacterl with hydrocephalus, is related to vacterl with hydrocephalus, fancb-related and fanconi syndrome, and has symptoms including autosomal recessive inheritance, intellectual deficit/mental/psychomotor retardation/learning disability and hydrocephaly. An important gene associated with Vater Association with Macrocephaly and Ventriculomegaly is PTEN (phosphatase and tensin homolog).

Description from OMIM:47 276950,314390

Aliases & Classifications for Vater Association with Macrocephaly and Ventriculomegaly

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
vacterl with hydrocephalus:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

vater association with macrocephaly and ventriculomegaly 47
vacterl with hydrocephalus 49
sujansky-leonard syndrome 49


External Ids:

ICD10 via Orphanet26 Q87.8

Related Diseases for Vater Association with Macrocephaly and Ventriculomegaly

Sources:
17GeneCards, 18GeneDecks
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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 with hydrocephalus, fancb-related10.3
2fanconi syndrome10.2
3branchial arch defects10.2

Clinical Features for Vater Association with Macrocephaly and Ventriculomegaly

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

276950,314390

Clinical synopsis from OMIM:

276950

Symptoms:

49 (show all 29)
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hydrocephaly
  • stenosis of aqueduc of sylvius
  • inguinal/inguinoscrotal/crural hernia
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • micrognathia/retrognathia/micrognathism/retrognathism
  • congenital cardiac anomaly/malformation/cardiopathy
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • x-linked recessive inheritance
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • stillbirth/neonatal death
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • intrauterine growth retardation
  • agenesis/hypoplasia/aplasia of kidneys
  • uterine/uterus/fallopian tubes anomalies
  • polyhydramnios
  • vertebral segmentation anomaly/hemivertebrae
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • spina bifida
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • microcornea
  • prematurity
  • single umbilical artery
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • sacrococcyx agenesis

Drugs & Therapeutics for Vater Association with Macrocephaly and Ventriculomegaly

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Vater Association with Macrocephaly and Ventriculomegaly

Anatomical Context for Vater Association with Macrocephaly and Ventriculomegaly

Animal Models for Vater Association with Macrocephaly and Ventriculomegaly or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Vater Association with Macrocephaly and Ventriculomegaly

Genetic Variations for Vater Association with Macrocephaly and Ventriculomegaly

Expression for genes affiliated with Vater Association with Macrocephaly and Ventriculomegaly

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Vater Association with Macrocephaly and Ventriculomegaly

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

Compounds for genes affiliated with Vater Association with Macrocephaly and Ventriculomegaly

GO Terms for genes affiliated with Vater Association with Macrocephaly and Ventriculomegaly

Products for genes affiliated with Vater Association with Macrocephaly and Ventriculomegaly

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  • Proteins
  • Lysates
  • Antibodies

Sources for Vater Association with Macrocephaly and Ventriculomegaly

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet