Aliases & Classifications for Exencephaly

MalaCards integrated aliases for Exencephaly:

Name: Exencephaly 49 51

Classifications:



Summaries for Exencephaly

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/superpathways are Gene Expression and SUMOylation. The drug Valproic Acid has been mentioned in the context of this disorder. Affiliated tissues include brain, pituitary and cerebellum, and related phenotypes are embryo and cardiovascular system

Wikipedia : 72 Exencephaly, is a type of cephalic disorder wherein the brain is located outside of the skull. This... more...

Related Diseases for Exencephaly

Graphical network of the top 20 diseases related to Exencephaly:



Diseases related to Exencephaly

Symptoms & Phenotypes for Exencephaly

MGI Mouse Phenotypes related to Exencephaly:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.97 KDM2B TGIF1 MSX2 TXN TXNRD1 TFAP2A
2 cardiovascular system MP:0005385 9.95 KDM2B TGIF1 MSX2 TXNRD1 TFAP2A TFAP2B
3 growth/size/body region MP:0005378 9.92 TFAP2C KDM2B TGIF1 MSX2 TXNRD1 TFAP2A
4 mortality/aging MP:0010768 9.85 TFAP2C KDM2B TGIF1 LMO1 MSX2 TXN
5 limbs/digits/tail MP:0005371 9.73 KDM2B TGIF1 MSX2 TFAP2A TFAP2B CITED2
6 normal MP:0002873 9.5 TFAP2C TGIF1 LMO1 MSX2 TXNRD1 TFAP2A
7 vision/eye MP:0005391 9.02 CITED2 KDM2B TGIF1 MSX2 TFAP2A

Drugs & Therapeutics for Exencephaly

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Valnoctamide in Mania Completed NCT00140179 Phase 3 valnoctamide

Search NIH Clinical Center for Exencephaly

Genetic Tests for Exencephaly

Anatomical Context for Exencephaly

MalaCards organs/tissues related to Exencephaly:

38
Brain, Pituitary, Cerebellum, Fetal Brain

Publications for Exencephaly

Articles related to Exencephaly:

(show top 50) (show all 125)
# Title Authors Year
1
Fetal MRI Characteristics of Exencephaly: A Case Report and Literature Review. ( 26955498 )
2016
2
Three- and four-dimensional HDlive rendering image of fetal acrania/exencephaly in early pregnancy. ( 27277248 )
2013
3
Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report. ( 23979620 )
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
The genetic background of the curly tail strain confers susceptibility to folate-deficiency-induced exencephaly. ( 19824061 )
2010
9
Mosaic expression of Med12 in female mice leads to exencephaly, spina bifida, and craniorachischisis. ( 20589884 )
2010
10
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
11
Cecr2 mutations causing exencephaly trigger misregulation of mesenchymal/ectodermal transcription factors. ( 20589882 )
2010
12
Exencephaly in a live, full term fetus. ( 21887200 )
2009
13
Acrania/encephalocele sequence (exencephaly) associated with 92,XXXX karyotype: early prenatal diagnosis at 9(+5) weeks by 3D transvaginal ultrasound and coelocentesis. ( 20002903 )
2009
14
Inducible 70 kDa heat shock proteins protect embryos from teratogen-induced exencephaly: Analysis using Hspa1a/a1b knockout mice. ( 19639652 )
2009
15
Ependymoblastomatous exencephaly: a unique fetal malformation. ( 18078364 )
2008
16
Concomitant exencephaly and limb defects associated with pentalogy of Cantrell. ( 19126524 )
2008
17
Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans. ( 17623803 )
2007
18
Familial exencephaly--anencephaly sequence and translocation. ( 17464825 )
2007
19
Loss of Gcn5 acetyltransferase activity leads to neural tube closure defects and exencephaly in mouse embryos. ( 17325035 )
2007
20
Targeted disruption of Mib2 causes exencephaly with a variable penetrance. ( 17987667 )
2007
21
Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging. ( 17135755 )
2007
22
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
23
Gene expression profiling of hereditary exencephaly in chickens. ( 16734686 )
2006
24
Ciliary proteins and exencephaly. ( 16444248 )
2006
25
Maternal diet alters exencephaly frequency in SELH/Bc strain mouse embryos. ( 15968625 )
2005
26
Exencephaly induction by valproic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn. ( 16359493 )
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
Folic acid prevents exencephaly in Cited2 deficient mice. ( 11823447 )
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
Exencephaly in a subset of animals heterozygous for AP-2alpha mutation. ( 11967920 )
2002
34
Immunohistochemical study on the fetal rat pituitary in hyperthermia-induced exencephaly. ( 12130798 )
2002
35
Effect of maternal methionine pre-treatment on alcohol-induced exencephaly and axial skeletal dysmorphogenesis in mouse fetuses. ( 11841898 )
2002
36
Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. ( 11694877 )
2001
37
Multifactorial genetics of exencephaly in SELH/Bc mice. ( 11598925 )
2001
38
A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects. ( 11320527 )
2001
39
Fetal exencephaly arising as a result of preimplantation exposure to ammonium chloride. ( 11556460 )
2001
40
Sonographic diagnosis of exencephaly: omphalocele at 11 weeks of gestation. ( 11147724 )
2000
41
Tumor necrosis factor receptor-associated factor 6 (TRAF6) deficiency results in exencephaly and is required for apoptosis within the developing CNS. ( 11007897 )
2000
42
Sonographic markers of exencephaly at 9 + 3 weeks of gestation. ( 11169357 )
2000
43
Determination of the optimal time and dosage of all-trans retinoic acid for induction of murine exencephaly. ( 10440777 )
1999
44
Chlorambucil-induced postclosure exencephaly and axial skeletal abnormalities in rat fetuses. ( 10378468 )
1999
45
First-trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly. ( 10355891 )
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

Expression for Exencephaly

Search GEO for disease gene expression data for Exencephaly.

Pathways for Exencephaly

Pathways related to Exencephaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.24 CITED2 TFAP2A TFAP2B TFAP2C TGIF1 TXN
2
Show member pathways
12.14 TFAP2A TFAP2B TFAP2C
3 12.03 TFAP2B TXN TXNRD1
4 11.52 TFAP2A TFAP2B TFAP2C TXN
5 11.34 MSX2 TFAP2A TFAP2B
6
Show member pathways
11.14 TXN TXNRD1
7
Show member pathways
10.89 CITED2 TFAP2A TFAP2B TFAP2C
8 10.72 TXN TXNRD1

GO Terms for Exencephaly

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.56 CITED2 KDM2B LMO1 TFAP2A TFAP2B TFAP2C
2 nucleus GO:0005634 9.32 CITED2 KDM2B LMO1 MSX2 TFAP2A TFAP2B

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.86 CITED2 KDM2B MSX2 TFAP2A TFAP2B TFAP2C
2 transcription by RNA polymerase II GO:0006366 9.83 CITED2 TFAP2A TFAP2B TFAP2C
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 CITED2 LMO1 TFAP2A TFAP2B TFAP2C
4 negative regulation of transcription, DNA-templated GO:0045892 9.78 CITED2 MSX2 TFAP2A TFAP2B
5 negative regulation of apoptotic process GO:0043066 9.76 CITED2 MSX2 TFAP2A TFAP2B
6 transcription, DNA-templated GO:0006351 9.76 CITED2 KDM2B MSX2 TFAP2A TFAP2B TFAP2C
7 outflow tract morphogenesis GO:0003151 9.56 CITED2 MSX2
8 positive regulation of neuron apoptotic process GO:0043525 9.55 TFAP2A TFAP2B
9 regulation of cell differentiation GO:0045595 9.54 TFAP2A TFAP2B
10 embryonic forelimb morphogenesis GO:0035115 9.51 MSX2 TFAP2A
11 cellular response to growth factor stimulus GO:0071363 9.5 CITED2 MSX2 TGIF1
12 nucleobase-containing small molecule interconversion GO:0015949 9.49 TXN TXNRD1
13 retina layer formation GO:0010842 9.43 TFAP2A TFAP2B
14 embryonic camera-type eye morphogenesis GO:0048596 9.37 CITED2 KDM2B
15 negative regulation of transcription by RNA polymerase II GO:0000122 9.28 CITED2 KDM2B LMO1 MSX2 TFAP2A TFAP2B
16 bone morphogenesis GO:0060349 9.13 CITED2 MSX2 TFAP2A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.95 KDM2B MSX2 TFAP2A TFAP2B TFAP2C TGIF1
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.7 TFAP2A TFAP2B TFAP2C
3 transcription coactivator activity GO:0003713 9.67 CITED2 TFAP2A TFAP2B
4 DNA binding transcription factor activity GO:0003700 9.65 CITED2 TFAP2A TFAP2B TFAP2C TGIF1
5 protein dimerization activity GO:0046983 9.61 TFAP2A TFAP2B TFAP2C
6 transcription corepressor activity GO:0003714 9.58 CITED2 TFAP2B TGIF1
7 RNA polymerase II transcription coactivator activity GO:0001105 9.51 CITED2 TFAP2B
8 RNA polymerase II transcription corepressor activity GO:0001106 9.37 CITED2 TFAP2B
9 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001078 9.33 TFAP2A TFAP2C TGIF1
10 protein disulfide oxidoreductase activity GO:0015035 9.32 TXN TXNRD1
11 thioredoxin-disulfide reductase activity GO:0004791 8.96 TXN TXNRD1
12 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 8.8 KDM2B TFAP2A TFAP2B
13 protein binding GO:0005515 10.16 CITED2 KDM2B LMO1 MSX2 TFAP2A TFAP2B

Sources for Exencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....