MCID: CRB094
MIFTS: 17

Cerebral Cavernous Malformations 3 malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases categories
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Summaries for Cerebral Cavernous Malformations 3

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MalaCards based summary: Cerebral Cavernous Malformations 3 is related to cerebritis and cerebral cavernous malformation, and has symptoms including An important gene associated with Cerebral Cavernous Malformations 3 is PDCD10 (programmed cell death 10).

Description from OMIM:46 603285

Aliases & Classifications for Cerebral Cavernous Malformations 3

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Cerebral Cavernous Malformations 3, Aliases & Descriptions:

Name: Cerebral Cavernous Malformations 3 46 62


Classifications:



Related Diseases for Cerebral Cavernous Malformations 3

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Symptoms for Cerebral Cavernous Malformations 3

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Clinical features from OMIM:

603285

HPO human phenotypes related to Cerebral Cavernous Malformations 3:

id Description Frequency HPO Source Accession
1 abnormality of the cerebrum obligate (100%) HP:0002060
2 seizures frequent (33%) HP:0001250
3 cerebral hemorrhage frequent (33%) HP:0001342
4 headache frequent (33%) HP:0002315
5 paralysis frequent (33%) HP:0003470

Drugs & Therapeutics for Cerebral Cavernous Malformations 3

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Drug clinical trials:

Search ClinicalTrials for Cerebral Cavernous Malformations 3

Search NIH Clinical Center 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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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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Clinvar genetic disease variations for Cerebral Cavernous Malformations 3:

6
id Gene Name Type Significance SNP ID Assembly Location
1PDCD10PDCD10, 586C-Tsingle nucleotide variantPathogenic
2PDCD10PDCD10, 385C-Tsingle nucleotide variantPathogenic
3PDCD10PDCD10, 103C-Tsingle nucleotide variantPathogenic
4PDCD10PDCD10, 54-BP DELdeletionPathogenic
5PDCD10PDCD10, 4-BP DELdeletionPathogenic
6PDCD10PDCD10, IVS8AS, G-A, -1single nucleotide variantPathogenic
7PDCD10PDCD10, DELdeletionPathogenic

Expression for genes affiliated with Cerebral Cavernous Malformations 3

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Expression patterns in normal tissues for genes affiliated with Cerebral Cavernous Malformations 3

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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
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Sources for Cerebral Cavernous Malformations 3

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet