MCID: VTR012
MIFTS: 24

Vater Association with Macrocephaly and Ventriculomegaly malady

Neuronal diseases, Fetal diseases, Rare diseases categories

Summaries for Vater Association with Macrocephaly and Ventriculomegaly

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48OMIM, 34MalaCards
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MalaCards: Vater Association with Macrocephaly and Ventriculomegaly, also known as vacterl with hydrocephalus, is related to hydrocephalus and vacterl with hydrocephalus, fancb-related, and has symptoms including polyhydramnios, vertebral segmentation anomaly/hemivertebrae and holoprosencephaly/arhinencephaly/unique lateral ventricle. An important gene associated with Vater Association with Macrocephaly and Ventriculomegaly is PTEN (phosphatase and tensin homolog). Affiliated tissues include testes, uterus and lung.

Description from OMIM:48 276950,314390

Aliases & Classifications for Vater Association with Macrocephaly and Ventriculomegaly

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Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 48
vacterl with hydrocephalus 50
sujansky-leonard syndrome 50


External Ids:

ICD10 via Orphanet27 Q87.8

Related Diseases for Vater Association with Macrocephaly and Ventriculomegaly

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18GeneCards, 19GeneDecks
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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
1hydrocephalus10.4
2vacterl with hydrocephalus, fancb-related10.4
3branchial arch defects10.2

Symptoms for Vater Association with Macrocephaly and Ventriculomegaly

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

276950

Clinical features from OMIM:

276950,314390

Symptoms:

50 (show all 29)
  • 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
  • uterine/uterus/fallopian tubes anomalies
  • agenesis/hypoplasia/aplasia of kidneys
  • intrauterine growth retardation
  • 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
  • autosomal recessive inheritance

Drugs & Therapeutics for Vater Association with Macrocephaly and Ventriculomegaly

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Vater Association with Macrocephaly and Ventriculomegaly

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Genetic Tests for Vater Association with Macrocephaly and Ventriculomegaly

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Anatomical Context for Vater Association with Macrocephaly and Ventriculomegaly

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Sources:
34MalaCards
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MalaCards organs/tissues related to Vater Association with Macrocephaly and Ventriculomegaly:

34
Testes, Uterus, Lung, Kidney

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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Sources:
2BioGPS, 16Gene 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

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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Vater Association with Macrocephaly and Ventriculomegaly

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet