MCID: CRB094
MIFTS: 17

Cerebral Cavernous Malformations 3 malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases categories

Summaries for Cerebral Cavernous Malformations 3

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48OMIM, 34MalaCards
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MalaCards: Cerebral Cavernous Malformations 3 is related to cerebritis and cerebral cavernous malformation. An important gene associated with Cerebral Cavernous Malformations 3 is PDCD10 (programmed cell death 10).

Description from OMIM:48 603285

Aliases & Classifications for Cerebral Cavernous Malformations 3

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48OMIM, 63UMLS
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Classifications:



Aliases & Descriptions:

cerebral cavernous malformations 3 48 63


Related Diseases for Cerebral Cavernous Malformations 3

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18GeneCards, 19GeneDecks
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Symptoms for Cerebral Cavernous Malformations 3

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48OMIM
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Clinical features from OMIM:

603285

Drugs & Therapeutics for Cerebral Cavernous Malformations 3

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Cerebral Cavernous Malformations 3

Drug clinical trials:

Search ClinicalTrials for Cerebral Cavernous Malformations 3

Search NIH Clinical Center for Cerebral Cavernous Malformations 3

Search CenterWatch for Cerebral Cavernous Malformations 3

Genetic Tests for Cerebral Cavernous Malformations 3

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Anatomical Context for Cerebral Cavernous Malformations 3

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Animal Models for Cerebral Cavernous Malformations 3 or affiliated genes

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Publications for Cerebral Cavernous Malformations 3

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53PubMed
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Articles related to Cerebral Cavernous Malformations 3:

(show all 11)
idTitleAuthorsYear
1
Structural basis for the unique heterodimeric assembly between cerebral cavernous malformation 3 and germinal center kinase III. (23665169)
2013
2
Focal defects in single-celled tubes mutant for Cerebral cavernous malformation 3, GCKIII, or NSF2. (23763949)
2013
3
Adaptor protein cerebral cavernous malformation 3 (CCM3) mediates phosphorylation of the cytoskeletal proteins ezrin/radixin/moesin by mammalian Ste20-4 to protect cells from oxidative stress. (22291017)
2012
4
Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. (21321212)
2011
5
Molecular recognition of leucine-aspartate repeat (LD) motifs by the focal adhesion targeting homology domain of cerebral cavernous malformation 3 (CCM3). (21632544)
2011
6
Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. (20371769)
2010
7
A PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) protein. (18782753)
2009
8
Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3. (19246713)
2009
9
Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein. (19370760)
2009
10
PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit. (18496199)
2008
11
Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. (16284570)
2005

Variations for Cerebral Cavernous Malformations 3

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1 National Center for Biotechnology Information (Clinvar)
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Expression for genes affiliated with Cerebral Cavernous Malformations 3

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebral Cavernous Malformations 3

Search GEO for disease gene expression data for Cerebral Cavernous Malformations 3.

Pathways for genes affiliated with Cerebral Cavernous Malformations 3

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Compounds for genes affiliated with Cerebral Cavernous Malformations 3

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GO Terms for genes affiliated with Cerebral Cavernous Malformations 3

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Products for genes affiliated with Cerebral Cavernous Malformations 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebral Cavernous Malformations 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet