Aliases & Classifications for Exencephaly

MalaCards integrated aliases for Exencephaly:

Name: Exencephaly 20 54

Classifications:



Summaries for Exencephaly

MalaCards based summary : Exencephaly is related to isolated exencephaly 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. Affiliated tissues include eye, thymus and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 73 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 77)
# Related Disease Score Top Affiliating Genes
1 isolated exencephaly 31.4 VANGL2 MTHFR
2 neural tube defects 30.1 VANGL2 MTHFR MSX2 CITED2
3 cleft palate, isolated 29.6 TFAP2A MTHFR MSX2 CITED2
4 double outlet right ventricle 29.3 VANGL2 TFAP2A MSX2 CITED2
5 anencephaly 11.1
6 hypervitaminosis a 10.2
7 overgrowth syndrome 10.2
8 encephalocele 10.2
9 syndromic craniosynostosis 10.2 TFAP2B MSX2
10 thoracoabdominal syndrome 10.1
11 neural tube closure defect 10.1
12 branchiooculofacial syndrome 10.1 TFAP2C TFAP2B TFAP2A
13 lens subluxation 10.0 TFAP2A MTHFR
14 omphalocele 10.0
15 isolated anencephaly 10.0 VANGL2 MTHFR
16 total spina bifida aperta 10.0 VANGL2 MTHFR
17 cervicothoracic spina bifida aperta 10.0 VANGL2 MTHFR
18 cervical spina bifida aperta 10.0 VANGL2 MTHFR
19 lumbosacral spina bifida aperta 10.0 VANGL2 MTHFR
20 thoracolumbosacral spina bifida aperta 10.0 VANGL2 MTHFR
21 upper thoracic spina bifida aperta 10.0 VANGL2 MTHFR
22 total spina bifida cystica 10.0 VANGL2 MTHFR
23 thoracolumbosacral spina bifida cystica 10.0 VANGL2 MTHFR
24 lumbosacral spina bifida cystica 10.0 VANGL2 MTHFR
25 cervical spina bifida cystica 10.0 VANGL2 MTHFR
26 cervicothoracic spina bifida cystica 10.0 VANGL2 MTHFR
27 atrial heart septal defect 10.0 TFAP2B MTHFR CITED2
28 upper thoracic spina bifida cystica 10.0 VANGL2 MTHFR
29 diaphragmatic hernia, congenital 10.0
30 constricting bands, congenital 10.0
31 ataxia and polyneuropathy, adult-onset 10.0
32 tethered spinal cord syndrome 10.0
33 chromosomal triplication 10.0
34 craniorachischisis 10.0
35 spina bifida aperta 10.0
36 ectopia cordis 10.0
37 microtia 10.0
38 patent foramen ovale 9.9 TFAP2B MTHFR CITED2
39 char syndrome 9.9 TFAP2C TFAP2B TFAP2A CITED2
40 cleft lip with or without cleft palate 9.9 TFAP2A MTHFR
41 asbestos-related lung carcinoma 9.9 TXNRD1 TXN
42 spina bifida occulta 9.9 VANGL2 MTHFR
43 coloboma of macula 9.8
44 hair whorl 9.8
45 waardenburg syndrome, type 3 9.8
46 chromosome 2q35 duplication syndrome 9.8
47 waardenburg syndrome, type 1 9.8
48 agnathia-otocephaly complex 9.8
49 conotruncal heart malformations 9.8
50 holoprosencephaly 1 9.8

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:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.6 TFAP2C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.6 TFAP2C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.6 TFAP2C
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.6 CITED2 TFAP2C
5 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.6 MTHFR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.6 MTHFR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.6 TFAP2C
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 MTHFR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.6 CITED2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 CITED2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.6 MTHFR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.6 MTHFR TFAP2C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.6 CITED2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.6 MTHFR TFAP2C
15 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.6 CITED2 TFAP2C

MGI Mouse Phenotypes related to Exencephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 CITED2 KDM2B LMO1 MSX2 TFAP2A TFAP2B
2 growth/size/body region MP:0005378 10.07 CITED2 KDM2B MSX2 MTHFR TFAP2A TFAP2B
3 embryo MP:0005380 10.06 CITED2 KDM2B MSX2 TFAP2A TFAP2C TGIF1
4 mortality/aging MP:0010768 10.03 CITED2 KDM2B LMO1 MSX2 MTHFR TFAP2A
5 limbs/digits/tail MP:0005371 9.92 CITED2 KDM2B MSX2 MTHFR TFAP2A TFAP2B
6 craniofacial MP:0005382 9.91 CITED2 MSX2 TFAP2A TFAP2B TGIF1 VANGL2
7 nervous system MP:0003631 9.85 CITED2 KDM2B LMO1 MSX2 MTHFR TFAP2A
8 normal MP:0002873 9.56 CITED2 LMO1 MSX2 TFAP2A TFAP2C TGIF1
9 vision/eye MP:0005391 9.28 CITED2 KDM2B LMO1 MSX2 MTHFR TFAP2A

Drugs & Therapeutics for Exencephaly

Search Clinical Trials , NIH Clinical Center for Exencephaly

Genetic Tests for Exencephaly

Anatomical Context for Exencephaly

MalaCards organs/tissues related to Exencephaly:

40
Eye, Thymus, Brain, Fetal Brain, Bone Marrow, Cortex, Cerebellum

Publications for Exencephaly

Articles related to Exencephaly:

(show top 50) (show all 694)
# Title Authors PMID Year
1
Intragenic deletion of Tgif causes defectsin brain development. 54 61
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
Routine first-trimester ultrasound screening using a standardized anatomical protocol. 61
33127430 2021
5
Hypoglossal Nerve Abnormalities as Biomarkers for Central Nervous System Defects in Mouse Lines Producing Embryonically Lethal Offspring. 61
33584208 2021
6
Somatic and de novo Germline Variants of MEDs in Human Neural Tube Defects. 61
33748132 2021
7
Apoptosis is involved in maintaining the character of the midbrain and the diencephalon roof plate after neural tube closure. 61
32979334 2020
8
Exencephaly-anencephaly Sequence. 61
33168213 2020
9
WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways. 61
32576942 2020
10
Sonic hedgehog signaling directs patterned cell remodeling during cranial neural tube closure. 61
33103996 2020
11
Redundant type II cadherins define neuroepithelial cell states for cytoarchitectonic robustness. 61
33060832 2020
12
A Glance of p53 Functions in Brain Development, Neural Stem Cells, and Brain Cancer. 61
32932978 2020
13
The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages. 61
32556516 2020
14
Rare mutations in the autophagy-regulating gene AMBRA1 contribute to human neural tube defects. 61
32333458 2020
15
Cell cycle-related kinase is a crucial regulator for ciliogenesis and Hedgehog signaling in embryonic mouse lung development. 61
32317081 2020
16
Spatial and temporal deletion reveals a latent effect of Megf8 on the left-right patterning and heart development. 61
32203821 2020
17
The fundamental building blocks of cortical development are established in human exencephaly. 61
31783397 2020
18
Fetal Acrania (Exencephaly) in the Context of a Pregnant Female Taking Adalimumab for Psoriasis: A Case Report. 61
33204064 2020
19
Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development. 61
32582689 2020
20
Folic Acid Fortification Prevents Morphological and Behavioral Consequences of X-Ray Exposure During Neurulation. 61
33488367 2020
21
Toxic effects of maternal exposure to silver nanoparticles on mice fetal development during pregnancy. 61
31617687 2020
22
Craniorachischisis with Exencephaly. 61
31986946 2020
23
Hectd1 is essential for embryogenesis in mice. 61
31301385 2019
24
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
25
Novel mouse model of encephalocele: post-neurulation origin and relationship to open neural tube defects. 61
31628096 2019
26
Meta-Analysis of Grainyhead-Like Dependent Transcriptional Networks: A Roadmap for Identifying Novel Conserved Genetic Pathways. 61
31683705 2019
27
Cell necrosis, intrinsic apoptosis and senescence contribute to the progression of exencephaly to anencephaly in a mice model of congenital chranioschisis. 61
31558708 2019
28
Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival. 61
31232685 2019
29
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation. 61
30689861 2019
30
Amniotic Band Syndrome Associated with Exencephaly: A Case Report and Literature Review. 61
31516628 2019
31
p53 Mutant p53N236S Induces Neural Tube Defects in Female Embryos. 61
31523200 2019
32
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice. 61
30189017 2018
33
Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum. 61
30377551 2018
34
Secretory pathway calcium ATPase 1 (SPCA1) controls mouse neural tube closure by regulating cytoskeletal dynamics. 61
30228103 2018
35
Cranial neural tube defect after trimethoprim exposure. 61
30012199 2018
36
A detailed characterization of congenital defects and mortality following moderate X-ray doses during neurulation. 61
29193908 2018
37
Assessment of squalene eligibility in bettering some maternal and fetal disorders instigated by gamma irradiation of rats at mid gestation. 61
29310516 2018
38
A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin. 61
29360170 2018
39
Cell cycle-related kinase regulates mammalian eye development through positive and negative regulation of the Hedgehog pathway. 61
29166577 2018
40
Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development. 61
28954202 2018
41
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
42
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
43
Differential requirement of SUFU in tissue development discovered in a hypomorphic mouse model. 61
28688895 2017
44
A new missense mutation in the paired domain of the mouse Pax3 gene. 61
28381738 2017
45
Deficient Vitamin E Uptake During Development Impairs Neural Tube Closure in Mice Lacking Lipoprotein Receptor SR-BI. 61
28701710 2017
46
From the Cover: Teratogenic Effects of in Utero Exposure to Di-(2-Ethylhexyl)-Phthalate (DEHP) in B6:129S4 Mice. 61
28123099 2017
47
Protein kinase C-alpha suppresses autophagy and induces neural tube defects via miR-129-2 in diabetic pregnancy. 61
28474670 2017
48
Use of high-frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc-deficient mice. 61
28056489 2017
49
Maternal exposure to nanosized titanium dioxide suppresses embryonic development in mice. 61
28883729 2017
50
Shared molecular networks in orofacial and neural tube development. 61
27933721 2017

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:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.85 TXNRD1 TXN TGIF1 TFAP2C TFAP2B TFAP2A
2 nucleoplasm GO:0005654 9.61 TXNRD1 TXN TGIF1 TFAP2C TFAP2B TFAP2A
3 chromatin GO:0000785 9.17 TGIF1 TFAP2C TFAP2B TFAP2A MSX2 KDM2B

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.88 TFAP2C TFAP2B TFAP2A LMO1 CITED2
2 regulation of transcription, DNA-templated GO:0006355 9.85 TGIF1 TFAP2C TFAP2B TFAP2A MSX2 CITED2
3 negative regulation of transcription, DNA-templated GO:0045892 9.8 TFAP2B TFAP2A MSX2 CITED2
4 regulation of transcription by RNA polymerase II GO:0006357 9.7 TGIF1 TFAP2C TFAP2B TFAP2A MSX2 KDM2B
5 regulation of cell proliferation GO:0042127 9.63 TFAP2C TFAP2B TFAP2A
6 bone morphogenesis GO:0060349 9.43 TFAP2A CITED2
7 neural tube closure GO:0001843 9.43 VANGL2 MTHFR CITED2
8 retina layer formation GO:0010842 9.4 TFAP2B TFAP2A
9 embryonic camera-type eye morphogenesis GO:0048596 9.32 KDM2B CITED2
10 negative regulation of transcription by RNA polymerase II GO:0000122 9.28 TXN TGIF1 TFAP2C TFAP2B TFAP2A MSX2
11 anatomical structure development GO:0048856 9.13 TFAP2C TFAP2B TFAP2A

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.77 TGIF1 TFAP2C TFAP2B TFAP2A MSX2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.72 TGIF1 TFAP2C TFAP2B TFAP2A KDM2B
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.46 TFAP2C TFAP2B TFAP2A MSX2
4 protein disulfide oxidoreductase activity GO:0015035 9.26 TXNRD1 TXN
5 sequence-specific double-stranded DNA binding GO:1990837 9.02 TGIF1 TFAP2C TFAP2B TFAP2A MSX2
6 thioredoxin-disulfide reductase activity GO:0004791 8.96 TXNRD1 TXN

Sources for Exencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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