MCID: EXN003
MIFTS: 31

Exencephaly malady

Category: Rare diseases

Aliases & Classifications for Exencephaly

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Aliases & Descriptions for Exencephaly:

Name: Exencephaly 48 50

Classifications:



Summaries for Exencephaly

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Wikipedia:71 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 cerebellum, and related mouse phenotypes are limbs/digits/tail and cardiovascular system.

Related Diseases for Exencephaly

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

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1anencephaly11.2
2neural tube defects10.0
3hypervitaminosis a10.0
4pentalogy of cantrell9.9
5sc phocomelia syndrome9.7
6riboflavin deficiency9.7
7craniorachischisis9.7
8brachydactyly9.7
9omphalocele9.7
10choroiditis9.7
11polydactyly9.7
12congenital diaphragmatic hernia9.7
13hyperglycemia9.7
14neuronitis9.7
15encephalocele9.7
16phocomelia9.7
17ataxia9.7
18exertional headache7.6CITED2, HPE6, KDM2B, MSX2, TFAP2A, TFAP2B

Graphical network of diseases related to Exencephaly:



Diseases related to exencephaly

Symptoms & Phenotypes for Exencephaly

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MGI Mouse Phenotypes related to Exencephaly according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TGIF1
2MP:00053858.6CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TGIF1
3MP:00053848.1CITED2, KDM2B, TFAP2A, TFAP2B, TGIF1, TXN
4MP:00053788.0CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TFAP2C
5MP:00028737.6CITED2, LMO1, MSX2, TFAP2A, TFAP2C, TGIF1
6MP:00053807.5CITED2, KDM2B, MSX2, TFAP2A, TFAP2C, TGIF1
7MP:00107686.8CITED2, KDM2B, LMO1, MSX2, TFAP2A, TFAP2B

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 332299-66-13121
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:

36
Brain, Pituitary, Cerebellum, Fetal brain

Publications for Exencephaly

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Articles related to Exencephaly:

(show top 50)    (show all 125)
idTitleAuthorsYear
1
Fetal MRI Characteristics of Exencephaly: A Case Report and Literature Review. (26955498)
2016
2
Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report. (23979620)
2013
3
Three- and four-dimensional HDlive rendering image of fetal acrania/exencephaly in early pregnancy. (27277248)
2013
4
Strain-specific modifier genes of Cecr2-associated exencephaly in mice: genetic analysis and identification of differentially expressed candidate genes. (22045912)
2012
5
Exencephaly: a first-trimester diagnosis. (22902849)
2012
6
Fbxl10/Kdm2b deficiency accelerates neural progenitor cell death and leads to exencephaly. (21220025)
2011
7
Mice defective in p53 nuclear localization signal 1 exhibit exencephaly. (21127973)
2011
8
Mosaic expression of Med12 in female mice leads to exencephaly, spina bifida, and craniorachischisis. (20589884)
2010
9
Anencephaly-exencephaly sequence and congenital diaphragmatic hernia in a fetus with 46, XX karyotype: Early prenatal diagnosis, necropsy, and maternal folate pathway genetic analysis. (20334481)
2010
10
The genetic background of the curly tail strain confers susceptibility to folate-deficiency-induced exencephaly. (19824061)
2010
11
Cecr2 mutations causing exencephaly trigger misregulation of mesenchymal/ectodermal transcription factors. (20589882)
2010
12
Acrania/encephalocele sequence (exencephaly) associated with 92,XXXX karyotype: early prenatal diagnosis at 9(+5) weeks by 3D transvaginal ultrasound and coelocentesis. (20002903)
2009
13
Inducible 70 kDa heat shock proteins protect embryos from teratogen-induced exencephaly: Analysis using Hspa1a/a1b knockout mice. (19639652)
2009
14
Exencephaly in a live, full term fetus. (21887200)
2009
15
Ependymoblastomatous exencephaly: a unique fetal malformation. (18078364)
2008
16
Concomitant exencephaly and limb defects associated with pentalogy of Cantrell. (19126524)
2008
17
Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging. (17135755)
2007
18
Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans. (17623803)
2007
19
Loss of Gcn5 acetyltransferase activity leads to neural tube closure defects and exencephaly in mouse embryos. (17325035)
2007
20
Familial exencephaly--anencephaly sequence and translocation. (17464825)
2007
21
Targeted disruption of Mib2 causes exencephaly with a variable penetrance. (17987667)
2007
22
Ciliary proteins and exencephaly. (16444248)
2006
23
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
24
Gene expression profiling of hereditary exencephaly in chickens. (16734686)
2006
25
Exencephaly induction by valproic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn. (16359493)
2005
26
Maternal diet alters exencephaly frequency in SELH/Bc strain mouse embryos. (15968625)
2005
27
Sonographic markers of exencephaly below 10 weeks' gestation. (15662695)
2005
28
Mapping a chromosomal locus for valproic acid-induced exencephaly in mice. (15170225)
2004
29
Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption rates in the splotch mouse. (12854658)
2003
30
The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice. (12529397)
2003
31
Immunohistochemical study on the fetal rat pituitary in hyperthermia-induced exencephaly. (12130798)
2002
32
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
33
Folic acid prevents exencephaly in Cited2 deficient mice. (11823447)
2002
34
Exencephaly in a subset of animals heterozygous for AP-2alpha mutation. (11967920)
2002
35
Effect of maternal methionine pre-treatment on alcohol-induced exencephaly and axial skeletal dysmorphogenesis in mouse fetuses. (11841898)
2002
36
Multifactorial genetics of exencephaly in SELH/Bc mice. (11598925)
2001
37
Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. (11694877)
2001
38
Fetal exencephaly arising as a result of preimplantation exposure to ammonium chloride. (11556460)
2001
39
A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects. (11320527)
2001
40
Sonographic markers of exencephaly at 9 + 3 weeks of gestation. (11169357)
2000
41
Sonographic diagnosis of exencephaly: omphalocele at 11 weeks of gestation. (11147724)
2000
42
Tumor necrosis factor receptor-associated factor 6 (TRAF6) deficiency results in exencephaly and is required for apoptosis within the developing CNS. (11007897)
2000
43
Determination of the optimal time and dosage of all-trans retinoic acid for induction of murine exencephaly. (10440777)
1999
44
First-trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly. (10355891)
1999
45
Chlorambucil-induced postclosure exencephaly and axial skeletal abnormalities in rat fetuses. (10378468)
1999
46
Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects. (10419687)
1999
47
Roles for laminin in embryogenesis: exencephaly, syndactyly, and placentopathy in mice lacking the laminin alpha5 chain. (9852162)
1998
48
13q--in a fetus with ultrasonographic diagnosis of exencephaly in the first trimester. (9664614)
1998
49
Effect of multifactorial genetic liability to exencephaly on the teratogenic effect of valproic acid in mice. (9261924)
1997
50
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

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 15)
idNameGO IDScoreTop Affiliating Genes
1embryonic forelimb morphogenesisGO:003511510.6MSX2, TFAP2A
2outflow tract morphogenesisGO:000315110.6CITED2, MSX2
3positive regulation of neuron apoptotic processGO:004352510.5TFAP2A, TFAP2B
4embryonic camera-type eye morphogenesisGO:004859610.5CITED2, KDM2B
5regulation of cell differentiationGO:004559510.4TFAP2A, TFAP2B
6retina layer formationGO:001084210.4TFAP2A, TFAP2B
7bone morphogenesisGO:006034910.3CITED2, MSX2, TFAP2A
8cellular response to growth factor stimulusGO:007136310.2CITED2, MSX2, TGIF1
9negative regulation of apoptotic processGO:00430669.9CITED2, MSX2, TFAP2A, TFAP2B
10negative regulation of transcription, DNA-templatedGO:00458929.9CITED2, MSX2, TFAP2A, TFAP2B
11nucleobase-containing small molecule interconversionGO:00159499.9TXN, TXNRD1
12response to reactive oxygen speciesGO:00003029.8TXN, TXNRD1
13positive regulation of transcription from RNA polymerase II promoterGO:00459449.2CITED2, LMO1, TFAP2A, TFAP2B, TFAP2C
14transcription from RNA polymerase II promoterGO:00063668.9MSX2, TFAP2A, TFAP2B, TFAP2C
15negative regulation of transcription from RNA polymerase II promoterGO:00001227.3CITED2, KDM2B, LMO1, MSX2, TFAP2A, TFAP2B

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:000098210.5MSX2, TFAP2A
2RNA polymerase II transcription coactivator activityGO:000110510.4CITED2, TFAP2B
3RNA polymerase II transcription corepressor activityGO:000110610.4CITED2, TFAP2B
4transcription coactivator activityGO:000371310.1CITED2, TFAP2A, TFAP2B
5RNA polymerase II core promoter sequence-specific DNA bindingGO:000097910.1KDM2B, TFAP2A, TFAP2B
6transcription corepressor activityGO:00037149.9CITED2, TFAP2B, TGIF1
7protein dimerization activityGO:00469839.9TFAP2A, TFAP2B, TFAP2C
8protein disulfide oxidoreductase activityGO:00150359.8TXN, TXNRD1
9transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.7TFAP2A, TFAP2B, TFAP2C
10transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010789.1TFAP2A, TFAP2C, TGIF1

Sources for Exencephaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet