MCID: VTR012
MIFTS: 28

Vater Association with Macrocephaly and Ventriculomegaly malady

Neuronal diseases, Fetal diseases, Rare diseases categories
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Summaries for Vater Association with Macrocephaly and Ventriculomegaly

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MalaCards based summary: 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 microcornea, optic nerve anomaly/optic atrophy/anomaly of the papilla and tracheo-esophageal fistula/esophageal atresia/stenosis. An important gene associated with Vater Association with Macrocephaly and Ventriculomegaly is PTEN (phosphatase and tensin homolog). Affiliated tissues include testes, kidney and lung, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Descriptions from OMIM:46 276950,314390

Aliases & Classifications for Vater Association with Macrocephaly and Ventriculomegaly

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Vater Association with Macrocephaly and Ventriculomegaly, Aliases & Descriptions:

Name: Vater Association with Macrocephaly and Ventriculomegaly 46
Vacterl with Hydrocephalus 48
 
Sujansky-Leonard Syndrome 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
vacterl with hydrocephalus:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 Q87.8

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
1hydrocephalus10.5
2vacterl with hydrocephalus, fancb-related10.4
3branchial arch defects10.2

Symptoms for Vater Association with Macrocephaly and Ventriculomegaly

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Symptoms by clinical synopsis from OMIM:

276950

Clinical features from OMIM:

276950,314390

Symptoms:

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

HPO human phenotypes related to Vater Association with Macrocephaly and Ventriculomegaly:

(show all 34)
id Description Frequency HPO Source Accession
1 hydrocephalus hallmark (90%) HP:0000238
2 microcornea hallmark (90%) HP:0000482
3 optic atrophy hallmark (90%) HP:0000648
4 intrauterine growth retardation hallmark (90%) HP:0001511
5 polyhydramnios hallmark (90%) HP:0001561
6 aqueductal stenosis hallmark (90%) HP:0002410
7 tracheoesophageal fistula hallmark (90%) HP:0002575
8 renal hypoplasia/aplasia hallmark (90%) HP:0008678
9 cognitive impairment hallmark (90%) HP:0100543
10 urogenital fistula hallmark (90%) HP:0100589
11 malformation of the heart and great vessels typical (50%) HP:0002564
12 vertebral segmentation defect typical (50%) HP:0003422
13 aplasia/hypoplasia of the radius typical (50%) HP:0006501
14 abnormality of female internal genitalia occasional (7.5%) HP:0000008
15 cryptorchidism occasional (7.5%) HP:0000028
16 micrognathia occasional (7.5%) HP:0000347
17 abnormality of the outer ear occasional (7.5%) HP:0000356
18 single umbilical artery occasional (7.5%) HP:0001195
19 holoprosencephaly occasional (7.5%) HP:0001360
20 premature birth occasional (7.5%) HP:0001622
21 spina bifida occasional (7.5%) HP:0002414
22 abnormality of the hip bone occasional (7.5%) HP:0003272
23 hernia of the abdominal wall occasional (7.5%) HP:0004299
24 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
25 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
26 aplasia/hypoplasia of the sacrum occasional (7.5%) HP:0008517
27 renal hypoplasia HP:0000089
28 hydrocephalus HP:0000238
29 anal atresia HP:0002023
30 aqueductal stenosis HP:0002410
31 malformation of the heart and great vessels HP:0002564
32 respiratory failure HP:0002878
33 abnormality of the vertebrae HP:0003468
34 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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Anatomical Context for Vater Association with Macrocephaly and Ventriculomegaly

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

32
Testes, Kidney, Lung, Uterus

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

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MGI Mouse Phenotypes related to Vater Association with Macrocephaly and Ventriculomegaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1ZIC3, PTEN
2MP:00053829.0ZIC3, PTEN
3MP:00053819.0ZIC3, PTEN
4MP:00053708.9PTEN, ZIC3
5MP:00053888.7ZIC3, PTEN

Publications for Vater Association with Macrocephaly and Ventriculomegaly

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Variations for Vater Association with Macrocephaly and Ventriculomegaly

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

6
id Gene Name Type Significance SNP ID Assembly Location
1ZIC3NM_003413.3(ZIC3): c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla)insertionPathogenicrs398122850GRCh37Chr X, 136649015: 136649016

Expression for genes affiliated with Vater Association with Macrocephaly and Ventriculomegaly

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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

Sources for Vater Association with Macrocephaly and Ventriculomegaly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet