Aliases & Classifications for Exencephaly

MalaCards integrated aliases for Exencephaly:

Name: Exencephaly 54 56

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 Decreased viability in esophageal squamous lineage and embryo

Wikipedia : 77 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

GenomeRNAi Phenotypes related to Exencephaly according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.1 CITED2 MSX2 TFAP2A TFAP2B TFAP2C TXNRD1

MGI Mouse Phenotypes related to Exencephaly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.01 CITED2 KDM2B MSX2 TFAP2A TFAP2C TGIF1
2 cardiovascular system MP:0005385 9.98 CITED2 KDM2B MSX2 TFAP2A TFAP2B TGIF1
3 growth/size/body region MP:0005378 9.97 CITED2 KDM2B MSX2 TFAP2A TFAP2B TFAP2C
4 mortality/aging MP:0010768 9.96 CITED2 KDM2B LMO1 MSX2 TFAP2A TFAP2B
5 limbs/digits/tail MP:0005371 9.8 CITED2 KDM2B MSX2 TFAP2A TFAP2B TGIF1
6 nervous system MP:0003631 9.7 CITED2 KDM2B MSX2 TFAP2A TFAP2B TGIF1
7 normal MP:0002873 9.5 CITED2 LMO1 MSX2 TFAP2A TFAP2C TGIF1
8 vision/eye MP:0005391 9.1 CITED2 KDM2B MSX2 TFAP2A TFAP2B TGIF1

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:

42
Brain, Pituitary, Cerebellum, Fetal Brain, Spinal Cord

Publications for Exencephaly

Articles related to Exencephaly:

(show top 50) (show all 129)
# Title Authors Year
1
Acrania-exencephaly-anencephaly sequence phenotypic characterization using two- and three-dimensional ultrasound between 11 and 13 weeks and 6 days of gestation. ( 30451407 )
2018
2
Fetal MRI Characteristics of Exencephaly: A Case Report and Literature Review. ( 26955498 )
2016
3
Three- and four-dimensional HDlive rendering image of fetal acrania/exencephaly in early pregnancy. ( 27277248 )
2013
4
Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report. ( 23979620 )
2013
5
Exencephaly: a first-trimester diagnosis. ( 22902849 )
2012
6
Strain-specific modifier genes of Cecr2-associated exencephaly in mice: genetic analysis and identification of differentially expressed candidate genes. ( 22045912 )
2012
7
Fbxl10/Kdm2b deficiency accelerates neural progenitor cell death and leads to exencephaly. ( 21220025 )
2011
8
Mice defective in p53 nuclear localization signal 1 exhibit exencephaly. ( 21127973 )
2011
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
Mosaic expression of Med12 in female mice leads to exencephaly, spina bifida, and craniorachischisis. ( 20589884 )
2010
11
Cecr2 mutations causing exencephaly trigger misregulation of mesenchymal/ectodermal transcription factors. ( 20589882 )
2010
12
The genetic background of the curly tail strain confers susceptibility to folate-deficiency-induced exencephaly. ( 19824061 )
2010
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
Exencephaly in a live, full term fetus. ( 21887200 )
2009
15
Inducible 70 kDa heat shock proteins protect embryos from teratogen-induced exencephaly: Analysis using Hspa1a/a1b knockout mice. ( 19639652 )
2009
16
Concomitant exencephaly and limb defects associated with pentalogy of Cantrell. ( 19126524 )
2008
17
Ependymoblastomatous exencephaly: a unique fetal malformation. ( 18078364 )
2008
18
Familial exencephaly--anencephaly sequence and translocation. ( 17464825 )
2007
19
Targeted disruption of Mib2 causes exencephaly with a variable penetrance. ( 17987667 )
2007
20
Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans. ( 17623803 )
2007
21
Loss of Gcn5 acetyltransferase activity leads to neural tube closure defects and exencephaly in mouse embryos. ( 17325035 )
2007
22
Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging. ( 17135755 )
2007
23
Gene expression profiling of hereditary exencephaly in chickens. ( 16734686 )
2006
24
Ciliary proteins and exencephaly. ( 16444248 )
2006
25
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
26
Exencephaly induction by valproic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn. ( 16359493 )
2005
27
Maternal diet alters exencephaly frequency in SELH/Bc strain mouse embryos. ( 15968625 )
2005
28
Sonographic markers of exencephaly below 10 weeks' gestation. ( 15662695 )
2005
29
Mapping a chromosomal locus for valproic acid-induced exencephaly in mice. ( 15170225 )
2004
30
Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption rates in the splotch mouse. ( 12854658 )
2003
31
The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice. ( 12529397 )
2003
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
Immunohistochemical study on the fetal rat pituitary in hyperthermia-induced exencephaly. ( 12130798 )
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
Folic acid prevents exencephaly in Cited2 deficient mice. ( 11823447 )
2002
37
Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. ( 11694877 )
2001
38
Multifactorial genetics of exencephaly in SELH/Bc mice. ( 11598925 )
2001
39
Fetal exencephaly arising as a result of preimplantation exposure to ammonium chloride. ( 11556460 )
2001
40
A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects. ( 11320527 )
2001
41
Sonographic markers of exencephaly at 9 + 3 weeks of gestation. ( 11169357 )
2000
42
Sonographic diagnosis of exencephaly: omphalocele at 11 weeks of gestation. ( 11147724 )
2000
43
Tumor necrosis factor receptor-associated factor 6 (TRAF6) deficiency results in exencephaly and is required for apoptosis within the developing CNS. ( 11007897 )
2000
44
Determination of the optimal time and dosage of all-trans retinoic acid for induction of murine exencephaly. ( 10440777 )
1999
45
Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects. ( 10419687 )
1999
46
Chlorambucil-induced postclosure exencephaly and axial skeletal abnormalities in rat fetuses. ( 10378468 )
1999
47
First-trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly. ( 10355891 )
1999
48
Roles for laminin in embryogenesis: exencephaly, syndactyly, and placentopathy in mice lacking the laminin alpha5 chain. ( 9852162 )
1998
49
13q--in a fetus with ultrasonographic diagnosis of exencephaly in the first trimester. ( 9664614 )
1998
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
13.23 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 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 CITED2 LMO1 TFAP2A TFAP2B TFAP2C
2 negative regulation of apoptotic process GO:0043066 9.76 CITED2 MSX2 TFAP2A TFAP2B
3 negative regulation of transcription, DNA-templated GO:0045892 9.73 CITED2 MSX2 TFAP2A TFAP2B
4 regulation of transcription, DNA-templated GO:0006355 9.73 CITED2 MSX2 TFAP2A TFAP2B TFAP2C TGIF1
5 cell proliferation GO:0008283 9.72 CITED2 TXN TXNRD1
6 cell redox homeostasis GO:0045454 9.54 TXN TXNRD1
7 outflow tract morphogenesis GO:0003151 9.52 CITED2 MSX2
8 positive regulation of neuron apoptotic process GO:0043525 9.51 TFAP2A TFAP2B
9 regulation of cell differentiation GO:0045595 9.49 TFAP2A TFAP2B
10 embryonic forelimb morphogenesis GO:0035115 9.48 MSX2 TFAP2A
11 retina layer formation GO:0010842 9.37 TFAP2A TFAP2B
12 cellular response to growth factor stimulus GO:0071363 9.33 CITED2 MSX2 TGIF1
13 embryonic camera-type eye morphogenesis GO:0048596 9.32 CITED2 KDM2B
14 negative regulation of transcription by RNA polymerase II GO:0000122 9.28 CITED2 KDM2B LMO1 MSX2 TFAP2A TFAP2B
15 bone morphogenesis GO:0060349 9.13 CITED2 MSX2 TFAP2A

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.88 KDM2B MSX2 TFAP2A TFAP2B TFAP2C TGIF1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.85 MSX2 TFAP2A TFAP2B TFAP2C TGIF1
3 transcription coactivator activity GO:0003713 9.65 CITED2 TFAP2A TFAP2B
4 transcription corepressor activity GO:0003714 9.61 CITED2 TFAP2B TGIF1
5 DNA-binding transcription factor activity GO:0003700 9.55 CITED2 TFAP2A TFAP2B TFAP2C TGIF1
6 protein dimerization activity GO:0046983 9.54 TFAP2A TFAP2B TFAP2C
7 protein disulfide oxidoreductase activity GO:0015035 9.26 TXN TXNRD1
8 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.26 MSX2 TFAP2A TFAP2B TFAP2C
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.02 KDM2B TFAP2A TFAP2B TFAP2C TGIF1
10 protein binding GO:0005515 10.02 CITED2 KDM2B LMO1 MSX2 TFAP2A TFAP2B

Sources for Exencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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