MCID: CRB094
MIFTS: 38

Cerebral Cavernous Malformations 3

Categories: Genetic diseases, Eye diseases, Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Cerebral Cavernous Malformations 3

MalaCards integrated aliases for Cerebral Cavernous Malformations 3:

Name: Cerebral Cavernous Malformations 3 53 71 28 13 69
Ccm3 53 12 71
Cerebral Cavernous Malformation 3 12 14
Cavernous Angiomatous Malformations 71
Cavernous Hemangioma of the Brain 71
Cerebral Capillary Malformations 71
Familial Cavernous Angioma 71
Cerebral Cavernoma 71

Classifications:



External Ids:

OMIM 53 603285
Disease Ontology 12 DOID:0060671
ICD10 32 Q28.3
MedGen 39 C1864040
MeSH 41 D020786
UMLS 69 C1864040

Summaries for Cerebral Cavernous Malformations 3

UniProtKB/Swiss-Prot : 71 Cerebral cavernous malformations 3: A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.

MalaCards based summary : Cerebral Cavernous Malformations 3, also known as ccm3, is related to cavernous malformation and cerebral cavernous malformations, and has symptoms including seizures, cerebral hemorrhage and abnormality of the cerebrum. An important gene associated with Cerebral Cavernous Malformations 3 is PDCD10 (Programmed Cell Death 10), and among its related pathways/superpathways are p38 MAPK signaling pathway (Pathway Interaction Database) and Regulation of p38-alpha and p38-beta. The drug Diazepam has been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotype is cardiovascular system.

Disease Ontology : 12 A cerebral cavernous malformation that_has_material_basis in mutation in the PDCD10 gene on chromosome 3q26.1.

Description from OMIM: 603285

Related Diseases for Cerebral Cavernous Malformations 3

Graphical network of the top 20 diseases related to Cerebral Cavernous Malformations 3:



Diseases related to Cerebral Cavernous Malformations 3

Symptoms & Phenotypes for Cerebral Cavernous Malformations 3

Clinical features from OMIM:

603285

Human phenotypes related to Cerebral Cavernous Malformations 3:

31
# Description HPO Frequency HPO Source Accession
1 seizures 31 frequent (33%) HP:0001250
2 cerebral hemorrhage 31 frequent (33%) HP:0001342
3 abnormality of the cerebrum 31 obligate (100%) HP:0002060
4 headache 31 frequent (33%) HP:0002315
5 paralysis 31 frequent (33%) HP:0003470

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations 3:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.1 CCM2 KRIT1 MAP3K3 PDCD10 RAP1B STRN

Drugs & Therapeutics for Cerebral Cavernous Malformations 3

Drugs for Cerebral Cavernous Malformations 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Implementing Health Plan-Level Care Management for Solo & Small Practices Completed NCT02041962

Search NIH Clinical Center for Cerebral Cavernous Malformations 3

Genetic Tests for Cerebral Cavernous Malformations 3

Genetic tests related to Cerebral Cavernous Malformations 3:

# Genetic test Affiliating Genes
1 Cerebral Cavernous Malformations 3 28 PDCD10

Anatomical Context for Cerebral Cavernous Malformations 3

MalaCards organs/tissues related to Cerebral Cavernous Malformations 3:

38
Brain

Publications for Cerebral Cavernous Malformations 3

Articles related to Cerebral Cavernous Malformations 3:

(show all 12)
# Title Authors Year
1
The cerebral cavernous malformation 3 gene is necessary for senescence induction. ( 25655101 )
2015
2
Focal defects in single-celled tubes mutant for Cerebral cavernous malformation 3, GCKIII, or NSF2. ( 23763949 )
2013
3
Structural basis for the unique heterodimeric assembly between cerebral cavernous malformation 3 and germinal center kinase III. ( 23665169 )
2013
4
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
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
Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. ( 21321212 )
2011
7
Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. ( 20371769 )
2010
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
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
11
PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit. ( 18496199 )
2008
12
Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. ( 16284570 )
2005

Variations for Cerebral Cavernous Malformations 3

ClinVar genetic disease variations for Cerebral Cavernous Malformations 3:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDCD10 PDCD10, 586C-T single nucleotide variant Pathogenic
2 PDCD10 PDCD10, 385C-T single nucleotide variant Pathogenic
3 PDCD10 PDCD10, 103C-T single nucleotide variant Pathogenic
4 PDCD10 PDCD10, 54-BP DEL deletion Pathogenic
5 PDCD10 PDCD10, 4-BP DEL deletion Pathogenic
6 PDCD10 PDCD10, IVS8AS, G-A, -1 single nucleotide variant Pathogenic
7 PDCD10 PDCD10, DEL deletion Pathogenic
8 PDCD10 NM_145860.1(PDCD10): c.557+4_557+7delAGTA deletion Pathogenic GRCh38 Chromosome 3, 167687227: 167687230
9 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic GRCh37 Chromosome 3, 167405398: 167405398
10 PDCD10 NM_145860.1(PDCD10): c.160_163delGAAA (p.Glu54Ilefs) deletion Pathogenic GRCh38 Chromosome 3, 167697114: 167697117
11 PDCD10 NM_145860.1(PDCD10): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 167413457: 167413457
12 PDCD10 NM_145860.1(PDCD10): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 167413478: 167413478

Expression for Cerebral Cavernous Malformations 3

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

Pathways for Cerebral Cavernous Malformations 3

Pathways related to Cerebral Cavernous Malformations 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.42 CCM2 MAP3K3
2 10.05 CCM2 MAP3K3

GO Terms for Cerebral Cavernous Malformations 3

Cellular components related to Cerebral Cavernous Malformations 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.32 CCM2 ITGB1BP1 KRIT1 MAP3K3 MOB4 PDCD10

Biological processes related to Cerebral Cavernous Malformations 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of Notch signaling pathway GO:0045747 9.32 ITGB1BP1 PDCD10
2 positive regulation of intracellular protein transport GO:0090316 9.26 PDCD10 RIPOR1
3 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.16 ITGB1BP1 PDCD10
4 regulation of establishment of cell polarity GO:2000114 8.96 KRIT1 RAP1B
5 establishment of Golgi localization GO:0051683 8.62 PDCD10 RIPOR1

Molecular functions related to Cerebral Cavernous Malformations 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.65 CCM2 ITGB1BP1 KRIT1 MAP3K3 MOB4 PDCD10
2 protein complex binding GO:0032403 8.92 ITGB1BP1 KRIT1 RAP1B STRN

Sources for Cerebral Cavernous Malformations 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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