MCID: EXN003
MIFTS: 32

Exencephaly malady

Categories: Rare diseases

Aliases & Classifications for Exencephaly

Aliases & Descriptions for Exencephaly:

Name: Exencephaly 50 52

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

Wikipedia : 71 Exencephaly, is a type of cephalic disorder wherein the brain is located outside of the skull. This... more...

Related Diseases for Exencephaly

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

(show all 20)
id Related Disease Score Top Affiliating Genes
1 anencephaly 11.2
2 neural tube defects 10.0
3 neuropathy, hereditary sensory and autonomic, type vi 10.0 CITED2 TFAP2A TFAP2B
4 hypervitaminosis a 9.9
5 pentalogy of cantrell 9.9
6 phocomelia 9.6
7 sc phocomelia syndrome 9.6
8 ataxia 9.6
9 riboflavin deficiency 9.6
10 craniorachischisis 9.6
11 brachydactyly 9.6
12 omphalocele 9.6
13 syndactyly 9.6
14 choroiditis 9.6
15 polydactyly 9.6
16 congenital diaphragmatic hernia 9.6
17 hyperglycemia 9.6
18 neuronitis 9.6
19 encephalocele 9.6
20 extrasystoles short stature hyperpigmentation microcephaly 8.3 CITED2 HPE6 KDM2B LMO1 MSX2 TFAP2A

Graphical network of the top 20 diseases related to Exencephaly:



Diseases related to Exencephaly

Symptoms & Phenotypes for Exencephaly

MGI Mouse Phenotypes related to Exencephaly:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 TFAP2B TGIF1 TXNRD1 CITED2 KDM2B MSX2
2 embryo MP:0005380 9.92 TXN TXNRD1 CITED2 KDM2B MSX2 TFAP2A
3 cellular MP:0005384 9.91 CITED2 KDM2B TFAP2A TFAP2B TGIF1 TXN
4 growth/size/body region MP:0005378 9.86 CITED2 KDM2B MSX2 TFAP2A TFAP2B TFAP2C
5 mortality/aging MP:0010768 9.65 CITED2 KDM2B LMO1 MSX2 TFAP2A TFAP2B
6 limbs/digits/tail MP:0005371 9.63 CITED2 KDM2B MSX2 TFAP2A TFAP2B TGIF1
7 normal MP:0002873 9.17 CITED2 LMO1 MSX2 TFAP2A TFAP2C TGIF1

Drugs & Therapeutics for Exencephaly

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


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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Valnoctamide in Mania Completed NCT00140179 Phase 3

Search NIH Clinical Center for Exencephaly

Genetic Tests for Exencephaly

Anatomical Context for Exencephaly

MalaCards organs/tissues related to Exencephaly:

39
Brain, Pituitary, Cerebellum, Fetal Brain

Publications for Exencephaly

Articles related to Exencephaly:

(show top 50) (show all 125)
id Title Authors Year
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
The genetic background of the curly tail strain confers susceptibility to folate-deficiency-induced exencephaly. ( 19824061 )
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
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
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
Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging. ( 17135755 )
2007
18
Familial exencephaly--anencephaly sequence and translocation. ( 17464825 )
2007
19
Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans. ( 17623803 )
2007
20
Loss of Gcn5 acetyltransferase activity leads to neural tube closure defects and exencephaly in mouse embryos. ( 17325035 )
2007
21
Targeted disruption of Mib2 causes exencephaly with a variable penetrance. ( 17987667 )
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
Ciliary proteins and exencephaly. ( 16444248 )
2006
24
Gene expression profiling of hereditary exencephaly in chickens. ( 16734686 )
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
The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice. ( 12529397 )
2003
30
Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption rates in the splotch mouse. ( 12854658 )
2003
31
Exencephaly in a subset of animals heterozygous for AP-2alpha mutation. ( 11967920 )
2002
32
Folic acid prevents exencephaly in Cited2 deficient mice. ( 11823447 )
2002
33
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
34
Effect of maternal methionine pre-treatment on alcohol-induced exencephaly and axial skeletal dysmorphogenesis in mouse fetuses. ( 11841898 )
2002
35
Immunohistochemical study on the fetal rat pituitary in hyperthermia-induced exencephaly. ( 12130798 )
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 diagnosis of exencephaly: omphalocele at 11 weeks of gestation. ( 11147724 )
2000
41
Sonographic markers of exencephaly at 9 + 3 weeks of gestation. ( 11169357 )
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
Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects. ( 10419687 )
1999
44
Determination of the optimal time and dosage of all-trans retinoic acid for induction of murine exencephaly. ( 10440777 )
1999
45
Chlorambucil-induced postclosure exencephaly and axial skeletal abnormalities in rat fetuses. ( 10378468 )
1999
46
First-trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly. ( 10355891 )
1999
47
13q--in a fetus with ultrasonographic diagnosis of exencephaly in the first trimester. ( 9664614 )
1998
48
Roles for laminin in embryogenesis: exencephaly, syndactyly, and placentopathy in mice lacking the laminin alpha5 chain. ( 9852162 )
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

GO Terms for Exencephaly

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.5 CITED2 KDM2B TFAP2A TFAP2B TFAP2C TGIF1
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)
id 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 from RNA polymerase II promoter GO:0006366 9.81 CITED2 TFAP2A TFAP2B TFAP2C
3 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.77 CITED2 LMO1 TFAP2A TFAP2B TFAP2C
4 negative regulation of transcription, DNA-templated GO:0045892 9.73 CITED2 MSX2 TFAP2A TFAP2B
5 negative regulation of apoptotic process GO:0043066 9.71 CITED2 MSX2 TFAP2A TFAP2B
6 transcription, DNA-templated GO:0006351 9.56 CITED2 KDM2B MSX2 TFAP2A TFAP2B TFAP2C
7 outflow tract morphogenesis GO:0003151 9.55 CITED2 MSX2
8 positive regulation of neuron apoptotic process GO:0043525 9.54 TFAP2A TFAP2B
9 regulation of cell differentiation GO:0045595 9.52 TFAP2A TFAP2B
10 nucleobase-containing small molecule interconversion GO:0015949 9.49 TXN TXNRD1
11 embryonic forelimb morphogenesis GO:0035115 9.48 MSX2 TFAP2A
12 bone morphogenesis GO:0060349 9.46 MSX2 TFAP2A
13 cellular response to growth factor stimulus GO:0071363 9.33 CITED2 MSX2 TGIF1
14 retina layer formation GO:0010842 9.32 TFAP2A TFAP2B
15 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.28 CITED2 KDM2B LMO1 MSX2 TFAP2A TFAP2B

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.99 KDM2B MSX2 TFAP2A TFAP2B TFAP2C TGIF1
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.72 CITED2 TFAP2A TFAP2B TFAP2C TGIF1
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.67 TFAP2A TFAP2B TFAP2C
4 transcription coactivator activity GO:0003713 9.65 CITED2 TFAP2A TFAP2B
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 9.46 CITED2 TFAP2B
8 RNA polymerase II transcription corepressor activity GO:0001106 9.37 CITED2 TFAP2B
9 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001078 9.33 TFAP2A TFAP2C TGIF1
10 protein disulfide oxidoreductase activity GO:0015035 9.26 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

Sources for Exencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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