Aliases & Classifications for Exencephaly

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Sources:
45NIH Rare Diseases, 47Novoseek
See all sources

Aliases & Descriptions for Exencephaly:

Name: Exencephaly 45 47


Classifications:



Summaries for Exencephaly

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Wikipedia:68 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 MSX2 (Msh Homeobox 2), and among its related pathways are Neural Crest Differentiation and Detoxification of Reactive Oxygen Species. Affiliated tissues include brain, pituitary and fetal brain, and related mouse phenotypes are limbs/digits/tail and normal.

Related Diseases for Exencephaly

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1anencephaly10.5
2neural tube defects10.3
3hypervitaminosis a10.3
4pentalogy of cantrell10.3
5isolated anencephaly/exencephaly10.2
6thanatophoric dysplasia, type ii10.0
7treacher collins syndrome 110.0
8sc phocomelia syndrome10.0
9joubert syndrome 110.0
10riboflavin deficiency10.0
11meckel syndrome 110.0
12otopalatodigital syndrome, type ii10.0
13craniorachischisis10.0
14holoprosencephaly10.0
15leber congenital amaurosis10.0
16vacterl association10.0
17walker-warburg syndrome10.0
18brachydactyly10.0
19congenital diaphragmatic hernia10.0
20polydactyly10.0
21choroiditis10.0
22neuronitis10.0
23omphalocele10.0
24adams-oliver syndrome10.0
25hyperglycemia10.0
26syndactyly10.0
27craniomicromelic syndrome10.0
28craniotelencephalic dysplasia10.0
29encephalocele10.0
30frontofacionasal dysplasia10.0
31frontonasal dysplasia acromelic10.0
32griscelli syndrome10.0
33iniencephaly10.0
34joubert syndrome with ocular anomalies10.0
35joubert syndrome with oculorenal anomalies10.0
36joubert syndrome with renal anomalies10.0
37knobloch syndrome10.0
38naguib-richieri-costa syndrome10.0
39pagod syndrome10.0
40phocomelia10.0
41scalp defects postaxial polydactyly10.0
42schisis association10.0
43triopia10.0
44ataxia10.0
45isolated dandy-walker malformation10.0
46frontal encephalocele10.0
47distal monosomy 13q10.0
48acro-pectoro-renal dysplasia10.0
49joubert syndrome with hepatic defect10.0
50cocaine embryofetopathy10.0

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Valproic Acidapproved, investigationalPhase 330299-66-13121
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-pentanoic 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-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)
Depakote ER
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaeure
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
VALPROIC acid
VPA
Valcote
Valparin
Valproate
Valproate Semisodium
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic
Valproic Acid
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
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid

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:

33
Brain, Pituitary, Fetal brain

Animal Models for Exencephaly or affiliated genes

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MGI Mouse Phenotypes related to Exencephaly:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TGIF1
2MP:00028737.9CITED2, LMO1, MSX2, TFAP2A, TFAP2C, TGIF1
3MP:00053857.8CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TGIF1
4MP:00053847.4CITED2, KDM2B, TFAP2A, TFAP2B, TGIF1, TXN
5MP:00053787.2CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TFAP2C
6MP:00053806.7CITED2, KDM2B, MSX2, TFAP2A, TFAP2C, TGIF1
7MP:00107685.7CITED2, KDM2B, LMO1, MSX2, TFAP2A, TFAP2B

Publications for Exencephaly

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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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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:00056346.0CITED2, KDM2B, LMO1, MSX2, TFAP2A, TFAP2B

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1embryonic forelimb morphogenesisGO:003511510.5MSX2, TFAP2A
2regulation of cell differentiationGO:004559510.4TFAP2A, TFAP2B
3positive regulation of neuron apoptotic processGO:004352510.4TFAP2A, TFAP2B
4outflow tract morphogenesisGO:000315110.3CITED2, MSX2
5embryonic camera-type eye morphogenesisGO:004859610.2CITED2, KDM2B
6retina layer formationGO:001084210.2TFAP2A, TFAP2B
7trophectodermal cell differentiationGO:000182910.1CITED2, TFAP2C
8bone morphogenesisGO:00603499.9CITED2, MSX2, TFAP2A
9determination of left/right symmetryGO:00073689.9CITED2, TGIF1
10cellular response to growth factor stimulusGO:00713639.8CITED2, MSX2, TGIF1
11response to reactive oxygen speciesGO:00003029.7TXN, TXNRD1
12skin developmentGO:00435889.7TFAP2B, TFAP2C
13negative regulation of apoptotic processGO:00430669.6CITED2, MSX2, TFAP2A, TFAP2B
14negative regulation of cell proliferationGO:00082859.6MSX2, TFAP2A, TFAP2B, TGIF1
15cell redox homeostasisGO:00454549.5TXN, TXNRD1
16nucleobase-containing small molecule interconversionGO:00159499.4TXN, TXNRD1
17negative regulation of transcription, DNA-templatedGO:00458929.4CITED2, MSX2, TFAP2A, TFAP2B
18transcription initiation from RNA polymerase II promoterGO:00063679.3TGIF1, TXN, TXNRD1
19transcription from RNA polymerase II promoterGO:00063668.6MSX2, TFAP2A, TFAP2B, TFAP2C
20positive regulation of transcription from RNA polymerase II promoterGO:00459448.5CITED2, LMO1, TFAP2A, TFAP2B, TFAP2C
21regulation of transcription, DNA-templatedGO:00063558.1CITED2, MSX2, TFAP2A, TFAP2B, TFAP2C, TGIF1
22negative regulation of transcription from RNA polymerase II promoterGO:00001226.5CITED2, KDM2B, LMO1, MSX2, TFAP2A, TFAP2B

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription coactivator activityGO:000110510.4CITED2, TFAP2B
2RNA polymerase II transcription corepressor activityGO:000110610.4CITED2, TFAP2B
3RNA polymerase II core promoter sequence-specific DNA bindingGO:000097910.4TFAP2A, TFAP2B
4transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:000098210.2MSX2, TFAP2A
5transcription coactivator activityGO:00037139.8CITED2, TFAP2A, TFAP2B
6RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.7TFAP2A, TFAP2B, TFAP2C
7transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.6TFAP2A, TFAP2B, TFAP2C
8protein dimerization activityGO:00469839.4TFAP2A, TFAP2B, TFAP2C
9transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010789.4TFAP2A, TFAP2C, TGIF1
10transcription corepressor activityGO:00037149.2CITED2, TFAP2B, TGIF1
11protein disulfide oxidoreductase activityGO:00150359.1TXN, TXNRD1
12transcription factor activity, sequence-specific DNA bindingGO:00037008.5CITED2, TFAP2A, TFAP2B, TFAP2C, TGIF1

Sources for Exencephaly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet