Aliases & Classifications for Exencephaly

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Aliases & Descriptions for Exencephaly:

Name: Exencephaly 45 47

Classifications:



Summaries for Exencephaly

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Wikipedia:68 Exencephaly, is a type of cephalic disorder wherein the brain is located outside of the skull. This... more...

MalaCards based summary: Exencephaly is related to isolated anencephaly/exencephaly and melanoma. An important gene associated with Exencephaly is MSX2 (Msh Homeobox 2), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include brain, t cells and b cells, and related mouse phenotypes are craniofacial and normal.

Related Diseases for Exencephaly

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Graphical network of the top 20 diseases related to Exencephaly:



Diseases related to exencephaly

Symptoms for Exencephaly

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Drugs & Therapeutics for Exencephaly

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Valproic Acidapproved, investigationalPhase 331199-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-PROPYL-pentanoic acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Depakote ER
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaeure
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VALPROIC acid
VPA
Valcote
Valparin
Valproate
Valproate Semisodium
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic
Valproic Acid
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid

Interventional clinical trials:

idNameStatusNCT IDPhase
1Valnoctamide in ManiaCompletedNCT00140179Phase 3

Search NIH Clinical Center for Exencephaly

Genetic Tests for Exencephaly

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Anatomical Context for Exencephaly

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MalaCards organs/tissues related to Exencephaly:

33
Brain, T cells, B cells, Breast, Thyroid, Testes, Prostate

Animal Models for Exencephaly or affiliated genes

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MGI Mouse Phenotypes related to Exencephaly:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0CITED2, MSX2, TFAP2A, TGIF1
2MP:00028738.2CITED2, LMO1, MSX2, TFAP2A, TFAP2C, TGIF1
3MP:00053718.0CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TGIF1
4MP:00053808.0CITED2, KDM2B, MSX2, TFAP2A, TFAP2C, TGIF1
5MP:00053857.7CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TGIF1
6MP:00053786.9CITED2, KDM2B, MSX2, TFAP2A, TFAP2B, TFAP2C
7MP:00107686.6CITED2, KDM2B, LMO1, MSX2, TFAP2A, TFAP2B

Publications for Exencephaly

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Articles related to Exencephaly:

(show top 50)    (show all 123)
idTitleAuthorsYear
1
Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects. (26959487)
2016
2
Acute Splenic Sequestration Crisis in a 70-Year-Old Patient With Hemoglobin SC Disease. (27047980)
2016
3
Detrusor Myocyte Autophagy Protects the Bladder Function via Inhibiting the Inflammation in Cyclophosphamide-Induced Cystitis in Rats. (25830308)
2015
4
Ictal Asystole in Focal Epilepsy: To Pace or Not to Pace? (26425256)
2015
5
Menopause after a history of intrahepatic cholestasis of pregnancy. (24149924)
2013
6
A qualitative study of legal and social justice needs for people with aphasia. (24228890)
2013
7
Proliferative vitreoretinopathy and genetic profile. (23825722)
2013
8
Epidemiological and clinical characteristics of cutaneous leishmaniasis and their relationship with the laboratory data, south of Brazil. (21412583)
2011
9
Multiple endocrine neoplasia type 2. (20833330)
2010
10
Comparative study of oxime-induced reactivation of erythrocyte and muscle AChE from different animal species following inhibition by sarin or paraoxon. (20156534)
2010
11
Hypoxia-inducible factor (HIF) 1alpha accumulation and HIF target gene expression are impaired after induction of endotoxin tolerance. (19414801)
2009
12
Insulin granule biogenesis, trafficking and exocytosis. (19251047)
2009
13
Post-dilution haemodiafiltration and low-flux haemodialysis have dissimilar effects on platelets: a side study of CONTRAST. (19561150)
2009
14
Sweat gland carcinoma. (19116525)
2009
15
Concurrence of marginal zone B-cell lymphoma MALT-type and Langerhans cell histiocytosis in a thyroid gland with Hashimoto disease. (18401582)
2008
16
Intracrine signalling of activin A in hepatocytes upregulates connective tissue growth factor (CTGF/CCN2) expression. (18397232)
2008
17
Tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) induced mitochondrial pathway to apoptosis and caspase activation is potentiated by phospholipid scramblase-3. (18491232)
2008
18
Comparison of doxycycline and minocycline in the inhibition of VEGF-induced smooth muscle cell migration. (17145119)
2007
19
Response of caspase-independent apoptotic factors to high salt diet-induced heart failure. (17292393)
2007
20
Enhancement of natural killer (NK) cell cytotoxicity by fever-range thermal stress is dependent on NKG2D function and is associated with plasma membrane NKG2D clustering and increased expression of MICA on target cells. (17711975)
2007
21
Growth-differentiation factor-15 in cardiovascular disease: from bench to bedside, and back. (17546529)
2007
22
Renal disease: the anesthesiologist's perspective. (17240605)
2006
23
Expression of N19S-SOD1, an SOD1 mutant found in sporadic amyotrophic lateral sclerosis patients, induces low-grade motoneuronal toxicity. (16035108)
2005
24
Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC. (14985395)
2004
25
Stanniocalcin-1 is a naturally occurring L-channel inhibitor in cardiomyocytes: relevance to human heart failure. (12663264)
2003
26
Slit stimulation recruits Dock and Pak to the roundabout receptor and increases Rac activity to regulate axon repulsion at the CNS midline. (14527437)
2003
27
High incidence of language disorder in children with focal epilepsies. (12206619)
2002
28
Molecular basis of human natural killer cell recognition of HLA-E (human leucocyte antigen-E) and its relevance to clearance of pathogen-infected and tumour cells. (10887053)
2000
29
Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance. (11044944)
2000
30
Therapeutic management of primary central nervous system lymphoma: lessons from prospective trials. (11038028)
2000
31
Exemplar representation without generalization? Comment on Smith and Minda's (2000) "Thirty categorization results in search of a model". (11185793)
2000
32
Endotoxin, cytokines, and endotoxin binding proteins in obstructive jaundice and after preoperative biliary drainage. (10764720)
2000
33
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. (10369870)
1999
34
Superoxide mediates the cell-death-enhancing action of presenilin-1 mutations. (10369213)
1999
35
Common sheath reimplantation with ureteral plication: a useful technique for the management of ectopic ureterocele. (10533905)
1999
36
Human papillomavirus DNA in non-melanoma skin cancers of a renal transplant recipient: detection of a new sequence related to epidermodysplasia verruciformis associated types. (8980287)
1997
37
Rapid killing of human neutrophils by the potent activator phorbol 12-myristate 13-acetate (PMA) accompanied by changes different from typical apoptosis or necrosis. (8603995)
1996
38
Dysregulation of interleukin 4, interleukin 5, and interferon gamma gene expression in steroid-resistant asthma. (7807013)
1995
39
Structural analysis of the principal immunodominant domain of the feline immunodeficiency virus transmembrane glycoprotein. (7884857)
1995
40
Gene therapy for alpha 1-antitrypsin deficiency. (8541824)
1995
41
Estrogen receptor detection in paraffin sections of adenocarcinoma of the colon, pancreas, and lung. (8204009)
1994
42
Carrier detection in X linked ocular albinism using linked DNA polymorphisms. (7918264)
1994
43
Disturbances in growth hormone secretion and action in adolescents with anorexia nervosa. (7523649)
1994
44
The Bgl II RFLP associated with type 1 diabetes in DR3-positive subjects is not due to a DQA1 promoter region polymorphism. (7914753)
1994
45
Promising new treatment for type I tyrosinemia. (8271141)
1993
46
Regulation of cytosolic free calcium in isolated rat osteoclasts by calcitonin. (1541924)
1992
47
Pathogenesis of liver disease in alpha 1-antitrypsin deficiency]. (2092568)
1990
48
Alexia without agraphia: a new case studied by CT-scan. (2747903)
1989
49
Interleukin-2 can induce proliferation of leukemic B-cells in prolymphocytic leukemia. (3297775)
1987
50
Pseudo-hermaphroditism. (19988816)
1932

Variations for Exencephaly

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Expression for genes affiliated with Exencephaly

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Search GEO for disease gene expression data for Exencephaly.

Pathways for genes affiliated with Exencephaly

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Pathways related to Exencephaly according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4MSX2, TFAP2A, TFAP2B

GO Terms for genes affiliated with Exencephaly

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1outflow tract morphogenesisGO:000315110.3CITED2, MSX2
2regulation of cell differentiationGO:004559510.3TFAP2A, TFAP2B
3embryonic forelimb morphogenesisGO:003511510.1MSX2, TFAP2A
4kidney developmentGO:000182210.1TFAP2A, TFAP2B
5cellular response to growth factor stimulusGO:007136310.1CITED2, MSX2
6positive regulation of transcription, DNA-templatedGO:00458939.8CITED2, TFAP2A, TFAP2B
7negative regulation of neuron apoptotic processGO:00435249.7KDM2B, TFAP2B
8bone morphogenesisGO:00603499.7CITED2, MSX2, TFAP2A
9transforming growth factor beta receptor signaling pathwayGO:00071799.6CITED2, TGIF1
10negative regulation of cell proliferationGO:00082859.6MSX2, TFAP2A, TFAP2B
11negative regulation of transcription, DNA-templatedGO:00458929.5CITED2, MSX2, TFAP2B
12negative regulation of transcription from RNA polymerase II promoterGO:00001228.9CITED2, MSX2, TFAP2B, TFAP2C
13positive regulation of transcription from RNA polymerase II promoterGO:00459448.5CITED2, LMO1, TFAP2A, TFAP2B
14regulation of transcription, DNA-templatedGO:00063558.4CITED2, TFAP2A, TFAP2B, TFAP2C, TGIF1

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

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00036829.7TFAP2A, TFAP2B

Sources for Exencephaly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet