Aliases & Classifications for Exencephaly

MalaCards integrated aliases for Exencephaly:

Name: Exencephaly 52 54

Classifications:



Summaries for Exencephaly

MalaCards based summary : Exencephaly is related to isolated exencephaly and anencephaly. 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, heart and kidney, and related phenotypes are embryo and cardiovascular system

Wikipedia : 74 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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 isolated exencephaly 12.2
2 anencephaly 11.7
3 neural tube defects 10.8
4 hypervitaminosis a 10.4
5 overgrowth syndrome 10.4
6 encephalocele 10.3
7 thoracoabdominal syndrome 10.3
8 neural tube closure defect 10.3
9 omphalocele 10.2
10 cleft palate, isolated 10.1
11 diaphragmatic hernia, congenital 10.1
12 constricting bands, congenital 10.1
13 ataxia and polyneuropathy, adult-onset 10.1
14 chromosomal triplication 10.1
15 spina bifida aperta 10.1
16 ectopia cordis 10.1
17 microtia 10.1
18 coloboma of macula 10.0
19 hair whorl 10.0
20 waardenburg syndrome, type 3 10.0
21 chromosome 2q35 duplication syndrome 10.0
22 waardenburg syndrome, type 1 10.0
23 agnathia-otocephaly complex 10.0
24 conotruncal heart malformations 10.0
25 holoprosencephaly 1 10.0
26 roberts syndrome 10.0
27 sc phocomelia syndrome 10.0
28 fryns microphthalmia syndrome 10.0
29 polydactyly 10.0
30 brittle bone disorder 10.0
31 chromosome 16p13.3 deletion syndrome, proximal 10.0
32 riboflavin deficiency 10.0
33 brachydactyly 10.0
34 microphthalmia 10.0
35 hydrocephalus 10.0
36 ventricular septal defect 10.0
37 hyperglycemia 10.0
38 hydranencephaly 10.0
39 double outlet right ventricle 10.0
40 waardenburg's syndrome 10.0
41 cleft lip 10.0
42 craniorachischisis 10.0
43 iniencephaly 10.0
44 meningoencephalocele 10.0
45 phocomelia 10.0
46 retinochoroidal coloboma 10.0
47 occipital encephalocele 10.0
48 branchiooculofacial syndrome 9.5 TFAP2C TFAP2B TFAP2A
49 asbestos-related lung carcinoma 9.5 TXNRD1 TXN
50 pontocerebellar hypoplasia, type 2d 9.4 TXNRD1 TXN

Graphical network of the top 20 diseases related to Exencephaly:



Diseases related to Exencephaly

Symptoms & Phenotypes for Exencephaly

MGI Mouse Phenotypes related to Exencephaly:

45
# 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 as a Valproate Substitute With Low Teratogenic Potential: Double-Blind Controlled Clinical Trial 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:

40
Brain, Heart, Kidney, Eye, Thymus, Fetal Brain, Bone Marrow

Publications for Exencephaly

Articles related to Exencephaly:

(show top 50) (show all 677)
# Title Authors PMID Year
1
Intragenic deletion of Tgif causes defectsin brain development. 61 54
17082251 2006
2
Null mutation of the Lmo4 gene or a combined null mutation of the Lmo1/Lmo3 genes causes perinatal lethality, and Lmo4 controls neural tube development in mice. 61 54
14966285 2004
3
A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects. 54 61
11320527 2001
4
Hectd1 is essential for embryogenesis in mice. 61
31301385 2019
5
A combination insecticide at sub-lethal dose debilitated the expression pattern of crucial signalling molecules that facilitate craniofacial patterning in domestic chick Gallus domesticus. 61
31593814 2019
6
The fundamental building blocks of cortical development are established in human exencephaly. 61
31783397 2019
7
Novel mouse model of encephalocele: post-neurulation origin and relationship to open neural tube defects. 61
31628096 2019
8
Toxic effects of maternal exposure to silver nanoparticles on mice fetal development during pregnancy. 61
31617687 2019
9
Meta-Analysis of Grainyhead-Like Dependent Transcriptional Networks: A Roadmap for Identifying Novel Conserved Genetic Pathways. 61
31683705 2019
10
Cell necrosis, intrinsic apoptosis and senescence contribute to the progression of exencephaly to anencephaly in a mice model of congenital chranioschisis. 61
31558708 2019
11
Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. 61
31232685 2019
12
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation. 61
30689861 2019
13
Amniotic Band Syndrome Associated with Exencephaly: A Case Report and Literature Review. 61
31516628 2019
14
p53 Mutant p53N236S Induces Neural Tube Defects in Female Embryos. 61
31523200 2019
15
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice. 61
30189017 2018
16
Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum. 61
30377551 2018
17
Secretory pathway calcium ATPase 1 (SPCA1) controls mouse neural tube closure by regulating cytoskeletal dynamics. 61
30228103 2018
18
Cranial neural tube defect after trimethoprim exposure. 61
30012199 2018
19
A detailed characterization of congenital defects and mortality following moderate X-ray doses during neurulation. 61
29193908 2018
20
Assessment of squalene eligibility in bettering some maternal and fetal disorders instigated by gamma irradiation of rats at mid gestation. 61
29310516 2018
21
A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin. 61
29360170 2018
22
Cell cycle-related kinase regulates mammalian eye development through positive and negative regulation of the Hedgehog pathway. 61
29166577 2018
23
Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development. 61
28954202 2018
24
Acrania-exencephaly-anencephaly sequence phenotypic characterization using two- and three-dimensional ultrasound between 11 and 13 weeks and 6 days of gestation. 61
30451407 2018
25
Myosin-X knockout is semi-lethal and demonstrates that myosin-X functions in neural tube closure, pigmentation, hyaloid vasculature regression, and filopodia formation. 61
29229982 2017
26
Differential requirement of SUFU in tissue development discovered in a hypomorphic mouse model. 61
28688895 2017
27
A new missense mutation in the paired domain of the mouse Pax3 gene. 61
28381738 2017
28
Deficient Vitamin E Uptake During Development Impairs Neural Tube Closure in Mice Lacking Lipoprotein Receptor SR-BI. 61
28701710 2017
29
From the Cover: Teratogenic Effects of in Utero Exposure to Di-(2-Ethylhexyl)-Phthalate (DEHP) in B6:129S4 Mice. 61
28123099 2017
30
Protein kinase C-alpha suppresses autophagy and induces neural tube defects via miR-129-2 in diabetic pregnancy. 61
28474670 2017
31
Use of high-frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc-deficient mice. 61
28056489 2017
32
A Novel Occulta-Type Spina Bifida Mediated by Murine Double Heterozygotes EphA2 and EphA4 Receptor Tyrosine Kinases. 61
29312933 2017
33
Maternal exposure to nanosized titanium dioxide suppresses embryonic development in mice. 61
28883729 2017
34
Shared molecular networks in orofacial and neural tube development. 61
27933721 2017
35
A Reliable and Reproducible Model for Assessing the Effect of Different Concentrations of α-Solanine on Rat Bone Marrow Mesenchymal Stem Cells. 61
29201465 2017
36
Possible Protective Role of Parsley Extract on the Diabetic Pregnant Rats and Their Fetuses. 61
30187738 2017
37
Isolated thoracoschisis: Case report. 61
29276880 2017
38
Dose-dependent teratogenicity of the synthetic cannabinoid CP-55,940 in mice. 61
26708672 2016
39
Formate supplementation enhances folate-dependent nucleotide biosynthesis and prevents spina bifida in a mouse model of folic acid-resistant neural tube defects. 61
26924399 2016
40
[Transcervical Embryoscopy after Missed Abortion in Monoamniotic Twins with Discordant Exencephaly]. 61
27124737 2016
41
Elevated nuclear sphingoid base-1-phosphates and decreased histone deacetylase activity after fumonisin B1 treatment in mouse embryonic fibroblasts. 61
26905748 2016
42
A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure. 61
26989192 2016
43
Absence of Rybp Compromises Neural Differentiation of Embryonic Stem Cells. 61
26788067 2016
44
Protective effect of quercetin on skeletal and neural tube teratogenicity induced by cyclophosphamide in rat fetuses. 61
27482358 2016
45
Distal 13q monosomy and neural tube defects. 61
29485808 2016
46
Uterine contractility as a cause of amniotic band syndrome. 61
27048015 2016
47
Fetal MRI Characteristics of Exencephaly: A Case Report and Literature Review. 61
26955498 2016
48
Melatonin prevents neural tube defects in the offspring of diabetic pregnancy. 61
26475080 2015
49
L-Carnitine Protect against Cyclophosphamide Induced Skeletal and Neural Tube Malformations in Rat Fetuses. 61
26786992 2015
50
Prevention of valproic acid-induced neural tube defects by sildenafil citrate. 61
25797655 2015

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 TXNRD1 TXN TGIF1 TFAP2C TFAP2B TFAP2A
2
Show member pathways
12.14 TFAP2C TFAP2B TFAP2A
3 12.03 TXNRD1 TXN TFAP2B
4 11.52 TXN TFAP2C TFAP2B TFAP2A
5 11.34 TFAP2B TFAP2A MSX2
6
Show member pathways
11.14 TXNRD1 TXN
7
Show member pathways
10.89 TFAP2C TFAP2B TFAP2A CITED2
8 10.72 TXNRD1 TXN

GO Terms for Exencephaly

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.85 TXNRD1 TXN TGIF1 TFAP2C TFAP2B TFAP2A
2 nuclear chromatin GO:0000790 9.43 TGIF1 TFAP2C TFAP2B TFAP2A MSX2 CITED2
3 nucleoplasm GO:0005654 9.28 TXNRD1 TXN TGIF1 TFAP2C TFAP2B TFAP2A

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.83 TFAP2C TFAP2B TFAP2A CITED2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 TFAP2C TFAP2B TFAP2A LMO1 CITED2
3 negative regulation of transcription, DNA-templated GO:0045892 9.76 TFAP2B TFAP2A MSX2 CITED2
4 negative regulation of apoptotic process GO:0043066 9.73 TFAP2B TFAP2A MSX2 CITED2
5 regulation of transcription, DNA-templated GO:0006355 9.73 TGIF1 TFAP2C TFAP2B TFAP2A MSX2 CITED2
6 positive regulation of neuron apoptotic process GO:0043525 9.54 TFAP2B TFAP2A
7 outflow tract morphogenesis GO:0003151 9.51 MSX2 CITED2
8 regulation of cell differentiation GO:0045595 9.49 TFAP2B TFAP2A
9 embryonic forelimb morphogenesis GO:0035115 9.48 TFAP2A MSX2
10 retina layer formation GO:0010842 9.37 TFAP2B TFAP2A
11 cellular response to growth factor stimulus GO:0071363 9.33 TGIF1 MSX2 CITED2
12 embryonic camera-type eye morphogenesis GO:0048596 9.32 KDM2B CITED2
13 negative regulation of transcription by RNA polymerase II GO:0000122 9.28 TXN TGIF1 TFAP2C TFAP2B TFAP2A MSX2
14 bone morphogenesis GO:0060349 9.13 TFAP2A MSX2 CITED2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.19 TXNRD1 TXN TGIF1 TFAP2C TFAP2B TFAP2A
2 DNA binding GO:0003677 9.93 TGIF1 TFAP2C TFAP2B TFAP2A MSX2 KDM2B
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.77 TGIF1 TFAP2C TFAP2B TFAP2A MSX2
4 DNA-binding transcription factor activity GO:0003700 9.72 TGIF1 TFAP2C TFAP2B TFAP2A CITED2
5 transcription coactivator activity GO:0003713 9.69 TFAP2B TFAP2A CITED2
6 transcription corepressor activity GO:0003714 9.65 TGIF1 TFAP2B CITED2
7 protein dimerization activity GO:0046983 9.61 TFAP2C TFAP2B TFAP2A
8 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.56 TFAP2C TFAP2B TFAP2A MSX2
9 protein disulfide oxidoreductase activity GO:0015035 9.4 TXNRD1 TXN
10 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.26 TGIF1 TFAP2C TFAP2A MSX2
11 thioredoxin-disulfide reductase activity GO:0004791 9.16 TXNRD1 TXN
12 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.02 TGIF1 TFAP2C TFAP2B TFAP2A KDM2B

Sources for Exencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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