MCID: EXN003
MIFTS: 40

Exencephaly malady

Rare diseases category
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Summaries for Exencephaly

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65Wikipedia, 33MalaCards
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Wikipedia:65 Exencephaly is a type of cephalic disorder wherein the brain is located outside of the skull. This... more...

MalaCards: Exencephaly is related to anencephaly and neural tube defects. 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 triacylglycerol and pioglitazone have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and fetal brain, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Aliases & Classifications for Exencephaly

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43NIH Rare Diseases, 45Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

exencephaly 43 45


Related Diseases for Exencephaly

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Exencephaly:



Diseases related to exencephaly

Symptoms for Exencephaly

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Drugs & Therapeutics for Exencephaly

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Exencephaly

Search NIH Clinical Center for Exencephaly

Genetic Tests for Exencephaly

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Anatomical Context for Exencephaly

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33MalaCards
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MalaCards organs/tissues related to Exencephaly:

33
Brain, Cerebellum, Fetal brain, Pituitary

Animal Models for Exencephaly or affiliated genes

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37MGI
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Publications for Exencephaly

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52PubMed
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Articles related to Exencephaly:

(show top 50)    (show all 121)
idTitleAuthorsYear
1
Fbxl10/Kdm2b deficiency accelerates neural progenitor cell death and leads to exencephaly. (21220025)
2011
2
Mosaic expression of Med12 in female mice leads to exencephaly, spina bifida, and craniorachischisis. (20589884)
2010
3
The genetic background of the curly tail strain confers susceptibility to folate-deficiency-induced exencephaly. (19824061)
2010
4
Inducible 70 kDa heat shock proteins protect embryos from teratogen-induced exencephaly: Analysis using Hspa1a/a1b knockout mice. (19639652)
2009
5
Ependymoblastomatous exencephaly: a unique fetal malformation. (18078364)
2008
6
Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging. (17135755)
2007
7
Ciliary proteins and exencephaly. (16444248)
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
Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption rates in the splotch mouse. (12854658)
2003
11
The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice. (12529397)
2003
12
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
13
A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects. (11320527)
2001
14
Multifactorial genetics of exencephaly in SELH/Bc mice. (11598925)
2001
15
Sonographic diagnosis of exencephaly: omphalocele at 11 weeks of gestation. (11147724)
2000
16
Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects. (10419687)
1999
17
Determination of the optimal time and dosage of all-trans retinoic acid for induction of murine exencephaly. (10440777)
1999
18
Roles for laminin in embryogenesis: exencephaly, syndactyly, and placentopathy in mice lacking the laminin alpha5 chain. (9852162)
1998
19
13q--in a fetus with ultrasonographic diagnosis of exencephaly in the first trimester. (9664614)
1998
20
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
21
Developmental expression of MARCKS and protein kinase C in mice in relation to the exencephaly resulting from MARCKS deficiency. (8922669)
1996
22
Role of formate in methanol-induced exencephaly in CD-1 mice. (8533111)
1995
23
Neuronal overmaturation in dysraphism: ontogenic expression of neuropeptides in the fetal brain and developmental anomalies in exencephaly. (8529216)
1995
24
A subset of p53-deficient embryos exhibit exencephaly. (7663512)
1995
25
Exencephaly in autosomal dominant brachydactyly syndrome. (7740003)
1995
26
Ultrasonographic findings of exencephaly in pentalogy of Cantrell: case report and review of the literature. (8046047)
1994
27
Exencephaly and axial skeletal malformations induced by maternal administration of sodium valproate in the MF1 mouse. (7852547)
1994
28
First-trimester diagnosis of exencephaly by transvaginal ultrasonography. (7932961)
1994
29
Studies of the effect of retinoic acid on anterior neural tube closure in mice genetically liable to exencephaly. (2006470)
1991
30
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
31
Inhibition of X-ray-induced exencephaly by protease inhibitors. (2371376)
1990
32
First-trimester diagnosis of exencephaly. (2178431)
1990
33
Pathogenesis of exencephaly and cranioschisis induced in the rat after neural tube closure: role of the mesenchyme. (2613858)
1989
34
Developmental study of neural tube closure in a mouse stock with a high incidence of exencephaly. (2928966)
1989
35
Experimental exencephaly and myeloschisis in rats. (2789737)
1989
36
Roberts-SC phocomelia syndrome with exencephaly. (2817778)
1989
37
Amniotic fluid cholinesterase of valproate-induced exencephaly in the mouse: an animal model for prenatal diagnosis of neural tube defects. (3142446)
1988
38
Exencephaly and axial skeletal dysmorphogenesis induced by maternal exposure to cadmium in the mouse. (3771736)
1986
39
Exencephaly: sonographic findings and radiologic-pathologic correlation. (3890003)
1985
40
Exencephaly in araucana chickens and silkie bantams. (4026741)
1985
41
Exencephaly in Cantrell-Haller-Ravitsch Syndrome. (6524297)
1984
42
Experimental induction of cranioschisis aperta and exencephaly after neural tube closure. A rat model. (6530614)
1984
43
Effect of L-threonine on trypan blue-induced exencephaly. (6771888)
1980
44
Early changes in the mouse neuroepithelium preceding exencephaly induced by hypervitaminosis A. (715727)
1978
45
Inheritance and morphology of exencephaly, a neonatal lethal recessive with partial penetrance, in the house mouse. (744482)
1978
46
Exencephaly in chicken-pheasant hybrids. (912466)
1977
47
Alpha-fetoprotein and albumin in experimentally-induced exencephaly in the rat. (70849)
1977
48
Skullbase malformations in rat fetuses with hypervitaminosis A-induced exencephaly. (4693745)
1973
49
Dental malformations in rat embryos with exencephaly induced by hypervitaminosis A. (5236137)
1967
50
Malformations of upper incisors in mouse embryos with exencephaly, induced by trypan blue. (5228801)
1966

Variations for Exencephaly

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Expression for genes affiliated with Exencephaly

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Exencephaly

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Pathways for genes affiliated with Exencephaly

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50PathCards, 12EMD Millipore, 38NCBI BioSystems Database, 5Cell Signaling Technology
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Pathways related to Exencephaly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5APOB, TFAP2A
29.3MSX2, TFAP2A, TFAP2B
39.1TFAP2A, TFAP2C, TFAP2B

Compounds for genes affiliated with Exencephaly

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45Novoseek, 29IUPHAR, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 24HMDB
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Compounds related to Exencephaly according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1triacylglycerol459.4TFAP2A, APOB
2pioglitazone29 45 51 1112.2APOB, TFAP2A
3testosterone45 61 24 1112.2TGIF1, APOB, TFAP2A
4estrogen458.6TGIF1, APOB, TFAP2A, TFAP2C

GO Terms for genes affiliated with Exencephaly

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16Gene Ontology
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Cellular components related to Exencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.8MSX2, LMO1, CITED2, TFAP2A, TFAP2C, TFAP2B

Biological processes related to Exencephaly according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1metanephric nephron developmentGO:0722109.9TFAP2A, TFAP2B
2bone morphogenesisGO:0603499.9TFAP2A, CITED2
3retina layer formationGO:0108429.9TFAP2A, TFAP2B
4embryonic forelimb morphogenesisGO:0351159.9MSX2, TFAP2A
5determination of left/right symmetryGO:0073689.9CITED2, TGIF1
6trophectodermal cell differentiationGO:0018299.8CITED2, TFAP2C
7sympathetic nervous system developmentGO:0484859.8TFAP2A, TFAP2B
8regulation of cell differentiationGO:0455959.8TFAP2A, TFAP2B
9keratinocyte developmentGO:0033349.8TFAP2A, TFAP2C
10outflow tract morphogenesisGO:0031519.8TFAP2A, CITED2
11neural tube closureGO:0018439.8CITED2, TGIF1
12positive regulation of neuron apoptotic processGO:0435259.7TFAP2A, TFAP2B
13kidney developmentGO:0018229.6TFAP2A, TFAP2B
14male gonad developmentGO:0085849.3CITED2, TFAP2C
15negative regulation of cell proliferationGO:0082859.2TFAP2B, TFAP2A, TGIF1, MSX2
16negative regulation of transcription, DNA-templatedGO:0458929.2MSX2, CITED2, TFAP2A, TFAP2B
17negative regulation of apoptotic processGO:0430669.2TFAP2B, TFAP2A, CITED2, MSX2
18positive regulation of transcription, DNA-templatedGO:0458939.1TFAP2B, TFAP2A, CITED2
19positive regulation of transcription from RNA polymerase II promoterGO:0459448.4TFAP2B, TFAP2C, TFAP2A, CITED2, LMO1
20negative regulation of transcription from RNA polymerase II promoterGO:0001227.8MSX2, TFAP2B, TFAP2C, TFAP2A, TGIF1, CITED2

Molecular functions related to Exencephaly according to GeneCards/GeneDecks:

(show all 16)
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:0009799.7TFAP2B, TFAP2A
3RNA polymerase II distal enhancer sequence-specific DNA bindingGO:0009809.7TFAP2C, TFAP2A
4sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0009819.6TFAP2B, TFAP2A
5RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcriptionGO:0010789.6TFAP2C, TFAP2A
6transcription corepressor activityGO:0037149.5TFAP2B, CITED2, TGIF1
7RNA polymerase II transcription corepressor activityGO:0011069.5TFAP2B, TFAP2A, CITED2
8RNA polymerase II transcription coactivator activityGO:0011059.5TFAP2B, TFAP2A, CITED2
9RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:0009789.4MSX2, TFAP2A
10transcription coactivator activityGO:0037139.4CITED2, TFAP2A, TFAP2B
11RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:0010779.4TFAP2B, TFAP2C, TFAP2A
12protein dimerization activityGO:0469839.3TFAP2B, TFAP2A, TFAP2C
13sequence-specific DNA bindingGO:0435659.2MSX2, TGIF1, TFAP2A, TFAP2B
14chromatin bindingGO:0036829.2CITED2, TFAP2B, TGIF1, TFAP2A
15sequence-specific DNA binding transcription factor activityGO:0037008.7TFAP2B, TGIF1, CITED2, TFAP2C
16protein bindingGO:0055157.5TFAP2B, TFAP2C, TFAP2A, APOB, TGIF1, CITED2

Products for genes affiliated with Exencephaly

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Sources for Exencephaly

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet