Aliases & Classifications for Exencephaly

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Aliases & Descriptions for Exencephaly:

Name: Exencephaly 46 48

Classifications:



Summaries for Exencephaly

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Wikipedia:69 Exencephaly, is a type of cephalic disorder wherein the brain is located outside of the skull. This... more...

MalaCards based summary: Exencephaly is related to anencephaly and neural tube defects. An important gene associated with Exencephaly is TFAP2A (Transcription Factor AP-2 Alpha), and among its related pathways are Neural Crest Differentiation and Detoxification of Reactive Oxygen Species. Affiliated tissues include brain, pituitary and cerebellum, and related mouse phenotypes are normal and limbs/digits/tail.

Related Diseases for Exencephaly

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Diseases related to Exencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1anencephaly11.3
2neural tube defects10.1
3hypervitaminosis a10.1
4pentalogy of cantrell10.0
5sc phocomelia syndrome9.8
6riboflavin deficiency9.8
7craniorachischisis9.8
8brachydactyly9.8
9omphalocele9.8
10syndactyly9.8
11choroiditis9.8
12polydactyly9.8
13congenital diaphragmatic hernia9.8
14hyperglycemia9.8
15neuronitis9.8
16encephalocele9.8
17phocomelia9.8
18ataxia9.8
19exertional headache6.6CITED2, HPE6, KDM2B, MSX2, TFAP2A, TFAP2B

Graphical network of diseases related to Exencephaly:



Diseases related to exencephaly

Symptoms for Exencephaly

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Drugs & Therapeutics for Exencephaly

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Drugs for Exencephaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Valproic AcidPhase 331899-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propyl-pentanoic acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VPA
Valcote
Valparin
Valproate
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
acide valproïque
acidum valproicum
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
ácido valproico

Interventional clinical trials:

idNameStatusNCT IDPhase
1Valnoctamide in ManiaCompletedNCT00140179Phase 3

Search NIH Clinical Center for Exencephaly

Genetic Tests for Exencephaly

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Anatomical Context for Exencephaly

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MalaCards organs/tissues related to Exencephaly:

34
Brain, Pituitary, Cerebellum, Fetal brain

Animal Models for Exencephaly or affiliated genes

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MGI Mouse Phenotypes related to Exencephaly:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.4CITED2, MSX2, TFAP2A, TFAP2C, TXNRD1
2MP:00053718.4CITED2, KDM2B, MSX2, TFAP2A, TFAP2B
3MP:00053857.9CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TXNRD1
4MP:00053847.8CITED2, KDM2B, TFAP2A, TFAP2B, TXN, TXNRD1
5MP:00053807.2CITED2, KDM2B, MSX2, TFAP2A, TFAP2C, TXN
6MP:00053787.1CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TFAP2C
7MP:00107686.7CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TFAP2C

Publications for Exencephaly

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Articles related to Exencephaly:

(show top 50)    (show all 125)
idTitleAuthorsYear
1
Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report. (23979620)
2013
2
Fbxl10/Kdm2b deficiency accelerates neural progenitor cell death and leads to exencephaly. (21220025)
2011
3
Mice defective in p53 nuclear localization signal 1 exhibit exencephaly. (21127973)
2011
4
Mosaic expression of Med12 in female mice leads to exencephaly, spina bifida, and craniorachischisis. (20589884)
2010
5
Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging. (17135755)
2007
6
Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans. (17623803)
2007
7
Loss of Gcn5 acetyltransferase activity leads to neural tube closure defects and exencephaly in mouse embryos. (17325035)
2007
8
Familial exencephaly--anencephaly sequence and translocation. (17464825)
2007
9
Targeted disruption of Mib2 causes exencephaly with a variable penetrance. (17987667)
2007
10
Ciliary proteins and exencephaly. (16444248)
2006
11
Exencephaly induction by valproic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn. (16359493)
2005
12
Maternal diet alters exencephaly frequency in SELH/Bc strain mouse embryos. (15968625)
2005
13
Mapping a chromosomal locus for valproic acid-induced exencephaly in mice. (15170225)
2004
14
Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption rates in the splotch mouse. (12854658)
2003
15
Multifactorial genetics of exencephaly in SELH/Bc mice. (11598925)
2001
16
Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. (11694877)
2001
17
Fetal exencephaly arising as a result of preimplantation exposure to ammonium chloride. (11556460)
2001
18
Sonographic markers of exencephaly at 9 + 3 weeks of gestation. (11169357)
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
Roles for laminin in embryogenesis: exencephaly, syndactyly, and placentopathy in mice lacking the laminin alpha5 chain. (9852162)
1998
23
Developmental expression of MARCKS and protein kinase C in mice in relation to the exencephaly resulting from MARCKS deficiency. (8922669)
1996
24
Exencephaly-anencephaly sequence: proof by ultrasound imaging and amniotic fluid cytology. (8796791)
1996
25
Role of formate in methanol-induced exencephaly in CD-1 mice. (8533111)
1995
26
A subset of p53-deficient embryos exhibit exencephaly. (7663512)
1995
27
Genetically determined absence of an initiation site of cranial neural tube closure is causally related to exencephaly in SELH/Bc mouse embryos. (8588181)
1995
28
Possible homozygous Waardenburg syndrome in a fetus with exencephaly. (8588597)
1995
29
First-trimester diagnosis of exencephaly by transvaginal ultrasonography. (7932961)
1994
30
Increase in postimplantation development of cultured mouse embryos by amino acids and induction of fetal retardation and exencephaly by ammonium ions. (7861382)
1994
31
Further genetic studies of the cause of exencephaly in SELH mice. (1412061)
1992
32
Progression of exencephaly to anencephaly in the human fetus--an ultrasound perspective. (1896409)
1991
33
Electron-microscopic studies on the pathogenesis of exencephaly and cranioschisis induced in the rat after neural tube closure: role of the neuroepithelium and choroid plexus. (2305630)
1990
34
Pathogenesis of exencephaly and cranioschisis induced in the rat after neural tube closure: role of the mesenchyme. (2613858)
1989
35
Experimental exencephaly and myeloschisis in rats. (2789737)
1989
36
Roberts-SC phocomelia syndrome with exencephaly. (2817778)
1989
37
Light microscopic studies on the pathogenesis of exencephaly and cranioschisis induced in the rat after neural tube closure. (3347905)
1988
38
Exencephaly--clinical and ultrasonic correlation to anencephaly. (3054653)
1988
39
Exencephaly and axial skeletal dysmorphogenesis induced by maternal exposure to cadmium in the mouse. (3771736)
1986
40
Exencephaly: sonographic findings and radiologic-pathologic correlation. (3890003)
1985
41
Exencephaly in araucana chickens and silkie bantams. (4026741)
1985
42
Experimental induction of cranioschisis aperta and exencephaly after neural tube closure. A rat model. (6530614)
1984
43
Axial skeletal malformations associated with cranioschisis aperta and exencephaly. The result of experimental intervention after the neural tube closure in rats. (6829274)
1983
44
Effect of L-threonine on trypan blue-induced exencephaly. (6771888)
1980
45
A comparison between trisomy 12 and vitamin A induced exencephaly and associated malformations in the mouse embryo. (6773238)
1980
46
Early changes in the mouse neuroepithelium preceding exencephaly induced by hypervitaminosis A. (715727)
1978
47
Alpha-fetoprotein and albumin in experimentally-induced exencephaly in the rat. (70849)
1977
48
Prevention of trypan Blue-induced exencephaly and otocephaly in gestating albino mice. (1129793)
1975
49
Dental malformations in rat embryos with exencephaly induced by hypervitaminosis A. (5236137)
1967
50
Fusion of upper incisors at bud or cap stage in mouse embryos with exencephaly induced by hypervitaminosis A. (5215259)
1965

Variations for Exencephaly

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Expression for genes affiliated with Exencephaly

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Search GEO for disease gene expression data for Exencephaly.

Pathways for genes affiliated with Exencephaly

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GO Terms for genes affiliated with Exencephaly

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Cellular components related to Exencephaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.5CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TFAP2C

Biological processes related to Exencephaly according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1regulation of cell differentiationGO:004559510.3TFAP2A, TFAP2B
2positive regulation of neuron apoptotic processGO:004352510.3TFAP2A, TFAP2B
3embryonic forelimb morphogenesisGO:003511510.3MSX2, TFAP2A
4outflow tract morphogenesisGO:000315110.2CITED2, MSX2
5cellular response to growth factor stimulusGO:007136310.2CITED2, MSX2
6embryonic camera-type eye morphogenesisGO:004859610.1CITED2, KDM2B
7retina layer formationGO:00108429.9TFAP2A, TFAP2B
8bone morphogenesisGO:00603499.8CITED2, MSX2, TFAP2A
9nucleobase-containing small molecule interconversionGO:00159499.7TXN, TXNRD1
10response to reactive oxygen speciesGO:00003029.7TXN, TXNRD1
11cell redox homeostasisGO:00454549.3TXN, TXNRD1
12negative regulation of transcription, DNA-templatedGO:00458929.2CITED2, MSX2, TFAP2A, TFAP2B
13negative regulation of apoptotic processGO:00430669.2CITED2, MSX2, TFAP2A, TFAP2B
14transcription from RNA polymerase II promoterGO:00063669.1MSX2, TFAP2A, TFAP2B, TFAP2C
15positive regulation of transcription from RNA polymerase II promoterGO:00459448.9CITED2, TFAP2A, TFAP2B, TFAP2C
16cell proliferationGO:00082838.9CITED2, TXN, TXNRD1
17negative regulation of transcription from RNA polymerase II promoterGO:00001226.8CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TFAP2C

Molecular functions related to Exencephaly according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription corepressor activityGO:000110610.2CITED2, TFAP2B
2RNA polymerase II transcription coactivator activityGO:000110510.1CITED2, TFAP2B
3transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:000098210.0MSX2, TFAP2A
4transcription coactivator activityGO:00037139.7CITED2, TFAP2A, TFAP2B
5RNA polymerase II core promoter sequence-specific DNA bindingGO:00009799.6KDM2B, TFAP2A, TFAP2B
6protein dimerization activityGO:00469839.4TFAP2A, TFAP2B, TFAP2C
7chromatin bindingGO:00036829.4CITED2, TFAP2A, TFAP2B
8transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.4TFAP2A, TFAP2B, TFAP2C
9protein disulfide oxidoreductase activityGO:00150358.8TXN, TXNRD1

Sources for Exencephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet