MCID: EXN003
MIFTS: 38

Exencephaly malady

Summaries for Exencephaly

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64Wikipedia, 33MalaCards
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Wikipedia:64 Exencephaly is a type of cephalic disorder wherein the brain is located outside of the skull. This... more...

MalaCards: Exencephaly is related to spina bifida and anencephaly. An important gene associated with Exencephaly is MSX2 (msh homeobox 2), and among its related pathways are Selected targets of C/EBPalpha and Neural Crest Differentiation. The compounds glutamate and p00001 have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and b cells, and related mouse phenotypes are limbs/digits/tail and embryogenesis.

Aliases & Classifications for Exencephaly

Sources:
43NIH Rare Diseases, 45Novoseek
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Aliases & Descriptions:

exencephaly 43 45


Related Diseases for Exencephaly

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Exencephaly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1spina bifida30.2CITED2, MTHFR
2anencephaly10.4
3neural tube defects10.3
4isolated anencephaly/exencephaly10.1
5holoprosencephaly10.0TGIF1
6tetralogy of fallot10.0CITED2
7patent ductus arteriosus10.0TFAP2B
8cleft palate10.0MTHFR
9hypercholesterolemia10.0APOB
10psoriasis10.0TGIF1, TFAP2A
11cleft lip10.0TFAP2A, MTHFR
12mental retardation10.0TFAP2A, TGIF1
13venous thrombosis10.0APOB, MTHFR
14arteriosclerosis10.0APOB, MTHFR, TGIF1
15diabetic nephropathy10.0MTHFR, TGIF1, APOB
16coronary artery disease,10.0TGIF1, APOB, MTHFR
17primary hyperoxaluria10.0APOB, TGIF1, MTHFR
18insulin resistance10.0APOB, TFAP2A, TFAP2B
19breast cancer10.0MTHFR, TGIF1, MSX2, TFAP2C, TFAP2A
20vacterl association9.9
21dandy-walker syndrome9.9
22syndactyly9.9
23brachydactyly9.9
24polydactyly9.9
25waardenburg's syndrome9.9
26hypervitaminosis d9.9
27roberts syndrome9.9
28congenital diaphragmatic hernia9.9
29thanatophoric dysplasia type 29.9
30naguib-richieri-costa syndrome9.9
31pagod syndrome9.9
32oto-palato-digital syndrome type 29.9
33limb-body wall complex9.9
34encephalocele9.9
35pentalogy of cantrell9.9
36coach syndrome9.9
37joubert syndrome 29.9
38craniotelencephalic dysplasia9.9
39scalp defects postaxial polydactyly9.9
40craniomicromelic syndrome9.9
41craniorachischisis9.9
42fraser syndrome9.9
43frontofacionasal dysplasia9.9
44frontonasal dysplasia acromelic9.9
45griscelli syndrome type 19.9
46iniencephaly9.9
47joubert syndrome with renal anomalies9.9
48schisis association9.9
49protein r deficiency9.9
50triopia9.9

Graphical network of the top 20 diseases related to Exencephaly:



Diseases related to exencephaly

Clinical Features for Exencephaly

Drugs & Therapeutics for Exencephaly

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Exencephaly

Search NIH Clinical Center for Exencephaly

Search CenterWatch for Exencephaly

Genetic Tests for Exencephaly

Anatomical Context for Exencephaly

Sources:
33MalaCards
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MalaCards organs/tissues related to Exencephaly:

33
Brain, Cerebellum, B cells, Fetal brain, Pituitary

Animal Models for Exencephaly or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Exencephaly

Sources:
51PubMed
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Articles related to Exencephaly:

(show top 50)    (show all 123)
idTitleAuthorsYear
1
Strain-specific modifier genes of Cecr2-associated exencephaly in mice: genetic analysis and identification of differentially expressed candidate genes. (22045912)
2012
2
Exencephaly: a first-trimester diagnosis. (22902849)
2012
3
Cecr2 mutations causing exencephaly trigger misregulation of mesenchymal/ectodermal transcription factors. (20589882)
2010
4
Acrania/encephalocele sequence (exencephaly) associated with 92,XXXX karyotype: early prenatal diagnosis at 9(+5) weeks by 3D transvaginal ultrasound and coelocentesis. (20002903)
2009
5
Loss of Gcn5 acetyltransferase activity leads to neural tube closure defects and exencephaly in mouse embryos. (17325035)
2007
6
Familial exencephaly--anencephaly sequence and translocation. (17464825)
2007
7
S-2-pentyl-4-pentynoic hydroxamic acid and its metabolite s-2-pentyl-4-pentynoic acid in the NMRI-exencephaly-mouse model: pharmacokinetic profiles, teratogenic effects, and histone deacetylase inhibition abilities of further valproic acid hydroxamates and amides. (16415118)
2006
8
Exencephaly induction by valproic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn. (16359493)
2005
9
Sonographic markers of exencephaly below 10 weeks' gestation. (15662695)
2005
10
Mapping a chromosomal locus for valproic acid-induced exencephaly in mice. (15170225)
2004
11
Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption rates in the splotch mouse. (12854658)
2003
12
The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice. (12529397)
2003
13
Sequential observations of exencephaly and subsequent morphological changes by mouse exo utero development system: analysis of the mechanism of transformation from exencephaly to anencephaly. (11875660)
2002
14
Exencephaly in a subset of animals heterozygous for AP-2alpha mutation. (11967920)
2002
15
Effect of maternal methionine pre-treatment on alcohol-induced exencephaly and axial skeletal dysmorphogenesis in mouse fetuses. (11841898)
2002
16
A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects. (11320527)
2001
17
Fetal exencephaly arising as a result of preimplantation exposure to ammonium chloride. (11556460)
2001
18
Tumor necrosis factor receptor-associated factor 6 (TRAF6) deficiency results in exencephaly and is required for apoptosis within the developing CNS. (11007897)
2000
19
Determination of the optimal time and dosage of all-trans retinoic acid for induction of murine exencephaly. (10440777)
1999
20
First-trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly. (10355891)
1999
21
Chlorambucil-induced postclosure exencephaly and axial skeletal abnormalities in rat fetuses. (10378468)
1999
22
Identification of a growth arrest specific (gas 5) gene by differential display as a candidate gene for determining susceptibility to hyperthermia-induced exencephaly in mice. (9397537)
1997
23
Exencephaly and cleft cerebellum in SELH/Bc mouse embryos are alternative developmental consequences of the same underlying genetic defect. (9035344)
1996
24
Role of formate in methanol-induced exencephaly in CD-1 mice. (8533111)
1995
25
Exencephaly in autosomal dominant brachydactyly syndrome. (7740003)
1995
26
Genetically determined absence of an initiation site of cranial neural tube closure is causally related to exencephaly in SELH/Bc mouse embryos. (8588181)
1995
27
Possible homozygous Waardenburg syndrome in a fetus with exencephaly. (8588597)
1995
28
Exencephaly and axial skeletal malformations induced by maternal administration of sodium valproate in the MF1 mouse. (7852547)
1994
29
Amnion rupture sequence with 'exencephaly': MR findings in a surviving infant. (8073970)
1994
30
Acetazolamide with caffeine causes exencephaly in "resistant" SWV mice. (8499663)
1993
31
Prenatal diagnosis of exencephaly. (8341641)
1993
32
New Zealand white mice: an experimental model of exencephaly. (8459678)
1993
33
Further genetic studies of the cause of exencephaly in SELH mice. (1412061)
1992
34
Is exencephaly the forerunner of anencephaly? An experimental study on the effect of prolonged gestation on the exencephaly induced after neural tube closure in the rat. (1746228)
1991
35
Inhibition of X-ray-induced exencephaly by protease inhibitors. (2371376)
1990
36
First-trimester diagnosis of exencephaly. (2178431)
1990
37
Scanning-electron-microscopic studies on the pathogenesis of exencephaly and cranioschisis induced in the rat after neural tube closure. (2368612)
1990
38
Pathogenesis of exencephaly and cranioschisis induced in the rat after neural tube closure: role of the mesenchyme. (2613858)
1989
39
Experimental exencephaly and myeloschisis in rats. (2789737)
1989
40
Roberts-SC phocomelia syndrome with exencephaly. (2817778)
1989
41
Light microscopic studies on the pathogenesis of exencephaly and cranioschisis induced in the rat after neural tube closure. (3347905)
1988
42
Exencephaly--clinical and ultrasonic correlation to anencephaly. (3054653)
1988
43
Abnormalities of the ear associated with exencephaly in mouse fetuses induced by maternal exposure to cadmium. (3563940)
1987
44
Exencephaly in araucana chickens and silkie bantams. (4026741)
1985
45
Malformations of the axial skeleton in cranioschisis aperta and exencephaly in rat fetuses induced after neural tube closure. (3933172)
1985
46
Experimental induction of cranioschisis aperta and exencephaly after neural tube closure. A rat model. (6530614)
1984
47
Arsenic-induced exencephaly in the mouse and associated lesions occurring during neurulation. (6665738)
1983
48
Effects of maternal diabetes on early embryogenesis: II. Hyperglycemia-induced exencephaly. (7455924)
1980
49
Inheritance and morphology of exencephaly, a neonatal lethal recessive with partial penetrance, in the house mouse. (744482)
1978
50
Skullbase malformations in rat fetuses with hypervitaminosis A-induced exencephaly. (4693745)
1973

Genetic Variations for Exencephaly

Expression for genes affiliated with Exencephaly

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Exencephaly

Search GEO for disease gene expression data for Exencephaly.

Pathways for genes affiliated with Exencephaly

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Exencephaly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6TFAP2A, APOB
29.4MSX2, TFAP2B, TFAP2A
39.2TFAP2C, TFAP2B, TFAP2A

Compounds for genes affiliated with Exencephaly

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to Exencephaly according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamate459.7APOB
2p00001459.4TFAP2A, MTHFR
3vitamin d459.2TGIF1, MTHFR, TFAP2A
4folate459.2APOB, TFAP2A, MTHFR
5testosterone45 60 11 2411.8APOB, TFAP2A, MTHFR, TGIF1
6cholesterol45 29 11 2411.8TGIF1, MTHFR, TFAP2A, APOB
7estrogen458.4TGIF1, MTHFR, TFAP2C, TFAP2A, APOB

GO Terms for genes affiliated with Exencephaly

Sources:
16Gene Ontology
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Biological processes related to Exencephaly according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1metanephric nephron developmentGO:07221010.0TFAP2B, TFAP2A
2retina layer formationGO:0108429.9TFAP2B, TFAP2A
3bone morphogenesisGO:0603499.9CITED2, TFAP2A
4keratinocyte developmentGO:0033349.8TFAP2A, TFAP2C
5trophectodermal cell differentiationGO:0018299.8TFAP2C, CITED2
6regulation of cell differentiationGO:0455959.8TFAP2A, TFAP2B
7embryonic forelimb morphogenesisGO:0351159.8MSX2, TFAP2A
8sympathetic nervous system developmentGO:0484859.8TFAP2A, TFAP2B
9positive regulation of neuron apoptotic processGO:0435259.7TFAP2A, TFAP2B
10outflow tract morphogenesisGO:0031519.6TFAP2A, CITED2
11determination of left/right symmetryGO:0073689.5CITED2, TGIF1
12negative regulation of cell proliferationGO:0082859.3MSX2, TFAP2B, TFAP2A, TGIF1
13negative regulation of transcription, DNA-dependentGO:0458929.3CITED2, TFAP2B, TFAP2A, MSX2
14negative regulation of apoptotic processGO:0430669.2MSX2, CITED2, TFAP2B, TFAP2A
15positive regulation of transcription from RNA polymerase II promoterGO:0459448.5CITED2, TFAP2C, TFAP2B, TFAP2A, LMO1
16negative regulation of transcription from RNA polymerase II promoterGO:0001228.4TGIF1, TFAP2A, TFAP2B, CITED2, LMO1, MSX2

Molecular functions related to Exencephaly according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activityGO:00098210.0MSX2, TFAP2A
2RNA polymerase II core promoter sequence-specific DNA bindingGO:0009799.8TFAP2B, TFAP2A
3RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:0009789.8TFAP2A, MSX2
4RNA polymerase II distal enhancer sequence-specific DNA bindingGO:0009809.7TFAP2C, TFAP2A
5sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0009819.7TFAP2A, TFAP2B
6RNA polymerase II transcription corepressor activityGO:0011069.6TFAP2A, CITED2, TFAP2B
7RNA polymerase II transcription coactivator activityGO:0011059.6TFAP2A, TFAP2B, CITED2
8transcription corepressor activityGO:0037149.6TFAP2B, CITED2, TGIF1
9RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negativeGO:0010789.6TFAP2A, TFAP2C
10transcription coactivator activityGO:0037139.5TFAP2B, TFAP2A, CITED2
11RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positiveGO:0010779.4TFAP2A, TFAP2B, TFAP2C
12protein dimerization activityGO:0469839.4TFAP2A, TFAP2C, TFAP2B
13sequence-specific DNA bindingGO:0435659.3MSX2, TGIF1, TFAP2B, TFAP2A
14chromatin bindingGO:0036829.1TFAP2A, CITED2, TGIF1
15sequence-specific DNA binding transcription factor activityGO:0037008.8TFAP2B, TGIF1, CITED2, TFAP2C

Products for genes affiliated with Exencephaly

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Sources for Exencephaly

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