MCID: EXN003
MIFTS: 28

Exencephaly malady

Summaries for Exencephaly

About this section
Sources:
63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:63 Exencephaly is a type of cephalic disorder wherein the brain is located outside of the skull. This... more...

MalaCards: Exencephaly is related to spina bifida and hypervitaminosis a. An important gene associated with Exencephaly is MSX2 (msh homeobox 2), and among its related pathways are Selected targets of C/EBPalpha and Neural Crest Differentiation. The compounds glutamate and p00001 have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are limbs/digits/tail and embryogenesis.

Aliases & Classifications for Exencephaly

About this section
Sources:
42NIH Rare Diseases, 44Novoseek
See all sources

Aliases & Descriptions:

exencephaly 42 44


Related Diseases for Exencephaly

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1spina bifida30.1CITED2, MTHFR
2hypervitaminosis a10.2
3isolated anencephaly/exencephaly10.1
4holoprosencephaly10.0TGIF1
5tetralogy of fallot10.0CITED2
6patent ductus arteriosus10.0TFAP2B
7cleft palate10.0MTHFR
8hypercholesterolemia10.0APOB
9psoriasis10.0TGIF1, TFAP2A
10cleft lip10.0TFAP2A, MTHFR
11mental retardation10.0TFAP2A, TGIF1
12venous thrombosis10.0APOB, MTHFR
13arteriosclerosis10.0APOB, MTHFR, TGIF1
14diabetic nephropathy10.0MTHFR, TGIF1, APOB
15coronary artery disease10.0TGIF1, APOB, MTHFR
16primary hyperoxaluria10.0APOB, TGIF1, MTHFR
17insulin resistance10.0APOB, TFAP2A, TFAP2B
18breast cancer10.0MTHFR, TGIF1, MSX2, TFAP2C, TFAP2A
19vacterl association9.9
20dandy-walker syndrome9.9
21choroiditis9.9
22syndactyly9.9
23sc phocomelia syndrome9.9
24brachydactyly9.9
25polydactyly9.9
26neuronitis9.9
27roberts syndrome9.9
28congenital diaphragmatic hernia9.9
29protein c deficiency9.9
30cerebellar ataxia9.9
31hyperglycemia9.9
32thanatophoric dysplasia type 29.9
33naguib-richieri-costa syndrome9.9
34pagod syndrome9.9
35oto-palato-digital syndrome type 29.9
36limb-body wall complex9.9
37pentalogy of cantrell9.9
38coach syndrome9.9
39joubert syndrome 29.9
40craniotelencephalic dysplasia9.9
41scalp defects postaxial polydactyly9.9
42craniomicromelic syndrome9.9
43fraser syndrome9.9
44neural tube defects9.9
45frontofacionasal dysplasia9.9
46frontonasal dysplasia9.9
47frontonasal dysplasia acromelic9.9
48griscelli syndrome type 19.9
49iniencephaly9.9
50joubert syndrome with renal anomalies9.9

Graphical network of the top 20 diseases related to Exencephaly:



Diseases related to exencephaly

Clinical Features for Exencephaly

About this section

Drugs & Therapeutics for Exencephaly

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Exencephaly

Drug clinical trials:

Search ClinicalTrials for Exencephaly

Search NIH Clinical Center for Exencephaly

Search CenterWatch for Exencephaly

Genetic Tests for Exencephaly

About this section

Anatomical Context for Exencephaly

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Exencephaly:

32
Brain

Animal Models for Exencephaly or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Exencephaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4TGIF1, TFAP2A, TFAP2B, CITED2, MTHFR, MSX2
2MP:00053808.2APOB, TFAP2A, TFAP2C, CITED2, MSX2, TGIF1
3MP:00053858.2APOB, TFAP2A, TFAP2B, CITED2, MSX2, TGIF1
4MP:00053918.1APOB, TFAP2A, CITED2, MTHFR, MSX2
5MP:00036318.1TGIF1, MSX2, MTHFR, CITED2, TFAP2A, APOB
6MP:00028738.0TFAP2A, TFAP2C, CITED2, LMO1, MSX2, TGIF1
7MP:00053787.3APOB, TFAP2A, TFAP2B, TFAP2C, CITED2, MTHFR
8MP:00107686.8APOB, TFAP2A, TFAP2B, TFAP2C, CITED2, MTHFR

Publications for Exencephaly

About this section

Genetic Variations for Exencephaly

About this section

Expression for genes affiliated with Exencephaly

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Exencephaly

Search GEO for disease gene expression data for Exencephaly.

Pathways for genes affiliated with Exencephaly

About this section
Sources:
12EMD Millipore, 37NCBI BioSystems Database, 4Cell Signaling Technology
See all sources

Pathways related to Exencephaly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6TFAP2A, APOB
29.4MSX2, TFAP2B, TFAP2A
39.2TFAP2C, TFAP2B, TFAP2A

Compounds for genes affiliated with Exencephaly

About this section
Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 28IUPHAR
See all sources

Compounds related to Exencephaly according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamate449.7APOB
2p00001449.4TFAP2A, MTHFR
3vitamin d449.2TGIF1, MTHFR, TFAP2A
4folate449.2APOB, TFAP2A, MTHFR
5testosterone44 59 11 2411.8APOB, TFAP2A, MTHFR, TGIF1
6cholesterol44 28 11 2411.8TGIF1, MTHFR, TFAP2A, APOB
7estrogen448.4TGIF1, MTHFR, TFAP2C, TFAP2A, APOB

GO Terms for genes affiliated with Exencephaly

About this section
Sources:
16Gene Ontology
See all sources

Biological processes related to Exencephaly according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1metanephric nephron developmentGO:07221010.0TFAP2A, TFAP2B
2retina layer formationGO:0108429.9TFAP2B, TFAP2A
3bone morphogenesisGO:0603499.9CITED2, TFAP2A
4keratinocyte developmentGO:0033349.8TFAP2C, TFAP2A
5trophectodermal cell differentiationGO:0018299.8CITED2, TFAP2C
6regulation of cell differentiationGO:0455959.8TFAP2A, TFAP2B
7embryonic forelimb morphogenesisGO:0351159.8MSX2, TFAP2A
8sympathetic nervous system developmentGO:0484859.8TFAP2B, TFAP2A
9positive regulation of neuron apoptotic processGO:0435259.7TFAP2B, TFAP2A
10outflow tract morphogenesisGO:0031519.6TFAP2A, CITED2
11determination of left/right symmetryGO:0073689.5TGIF1, CITED2
12negative regulation of cell proliferationGO:0082859.3TFAP2A, TFAP2B, MSX2, TGIF1
13negative regulation of transcription, DNA-dependentGO:0458929.3TFAP2A, TFAP2B, CITED2, MSX2
14negative regulation of apoptotic processGO:0430669.2TFAP2A, TFAP2B, CITED2, MSX2
15positive regulation of transcription from RNA polymerase II promoterGO:0459448.5TFAP2A, TFAP2B, TFAP2C, CITED2, LMO1
16negative regulation of transcription from RNA polymerase II promoterGO:0001228.4TGIF1, MSX2, LMO1, CITED2, TFAP2B, TFAP2A

Molecular functions related to Exencephaly according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activityGO:00098210.0TFAP2A, MSX2
2RNA polymerase II core promoter sequence-specific DNA bindingGO:0009799.8TFAP2B, TFAP2A
3RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:0009789.8TFAP2A, MSX2
4RNA polymerase II distal enhancer sequence-specific DNA bindingGO:0009809.7TFAP2C, TFAP2A
5sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0009819.7TFAP2B, TFAP2A
6RNA polymerase II transcription corepressor activityGO:0011069.6CITED2, TFAP2B, TFAP2A
7RNA polymerase II transcription coactivator activityGO:0011059.6TFAP2A, TFAP2B, CITED2
8transcription corepressor activityGO:0037149.6TFAP2B, CITED2, TGIF1
9RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negativeGO:0010789.6TFAP2C, TFAP2A
10transcription coactivator activityGO:0037139.5CITED2, TFAP2B, TFAP2A
11RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positiveGO:0010779.4TFAP2C, TFAP2B, TFAP2A
12protein dimerization activityGO:0469839.4TFAP2C, TFAP2B, TFAP2A
13sequence-specific DNA bindingGO:0435659.3TFAP2A, TFAP2B, MSX2, TGIF1
14chromatin bindingGO:0036829.1TFAP2A, CITED2, TGIF1
15sequence-specific DNA binding transcription factor activityGO:0037008.8TGIF1, CITED2, TFAP2C, TFAP2B

Products for genes affiliated with Exencephaly

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Exencephaly

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet