CCM3
MCID: CRB094
MIFTS: 40

Cerebral Cavernous Malformations 3 (CCM3) malady

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

Aliases & Classifications for Cerebral Cavernous Malformations 3

Aliases & Descriptions for Cerebral Cavernous Malformations 3:

Name: Cerebral Cavernous Malformations 3 54 66 13 69
Cerebral Cavernous Malformation 3 12 29 14
Ccm3 12 66
Cavernous Angiomatous Malformations 66
Cavernous Hemangioma of the Brain 66
Cerebral Capillary Malformations 66
Familial Cavernous Angioma 66
Cerebral Cavernoma 66

Classifications:



External Ids:

OMIM 54 603285
Disease Ontology 12 DOID:0060671
ICD10 33 Q28.3
MedGen 40 C1864040
MeSH 42 D020786

Summaries for Cerebral Cavernous Malformations 3

UniProtKB/Swiss-Prot : 66 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 cerebral cavernous malformation 3, is related to familial cerebral cavernous malformation 3 and cerebral cavernous malformations-1, and has symptoms including headache, seizures and paralysis. 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 drugs Simvastatin and Diazepam have been mentioned in the context of this disorder. Affiliated tissues include brain.

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

Diseases in the Cerebral Cavernous Malformations-2 family:

Cerebral Cavernous Malformations 3 Cerebral Cavernous Malformations-1
Cerebral Cavernous Malformation, Familial Familial Cerebral Cavernous Malformation 1
Familial Cerebral Cavernous Malformation 2 Familial Cerebral Cavernous Malformation 3
Familial Cerebral Cavernous Malformation 4

Diseases related to Cerebral Cavernous Malformations 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
id Related Disease Score Top Affiliating Genes
1 familial cerebral cavernous malformation 3 12.2
2 cerebral cavernous malformations-1 11.3
3 cerebral cavernous malformations-2 11.1
4 cavernous malformation 10.3
5 cerebritis 10.3
6 adult pineoblastoma 10.1 KRIT1 SNRPB
7 chondrodysplasia punctata 1, x-linked 10.0 CCM2 KRIT1 PDCD10
8 alcoholic psychosis 10.0 KRIT1 SNRPB
9 ichthyosis lamellar 1 10.0 CCM2 KRIT1 PDCD10
10 nail disorder, nonsyndromic congenital, 10, 10.0 CCM2 KRIT1 PDCD10
11 weyers ulnar ray/oligodactyly syndrome 10.0 CCM2 KRIT1 PDCD10
12 acromesomelic dysplasia, maroteaux type 10.0 CCM2 KRIT1 PDCD10
13 paget's disease of bone 9.9 KRIT1 SNRPB
14 cerebellar astrocytoma 9.9 CCM2 KRIT1 PDCD10 SNRPB
15 pallister-hall syndrome 9.7 CCM2 KRIT1 MAP3K3 PDCD10 SNRPB
16 chronic pain 9.6 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10
17 charcot-marie-tooth disease, axonal, type 2f 9.3 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10 SNRPB
18 pineal parenchymal tumor of intermediate differentiation 9.0 CCM2 ITGB1BP1 KRIT1 MAP3K3 MOB4 PDCD10
19 retinitis pigmentosa 68 8.8 CCM2 FAM222B ITGB1BP1 KRIT1 MAP3K3 MOB4

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:

32
id Description HPO Frequency HPO Source Accession
1 headache 32 HP:0002315
2 seizures 32 HP:0001250
3 paralysis 32 HP:0003470
4 cerebral hemorrhage 32 HP:0001342
5 abnormality of the cerebrum 32 HP:0002060

Drugs & Therapeutics for Cerebral Cavernous Malformations 3

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Early Phase 1 79902-63-9 54454
2
Diazepam Approved, Illicit, Vet_approved 439-14-5 3016
3 Neuroserpin
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Early Phase 1
5 Hypolipidemic Agents Early Phase 1
6 Anticholesteremic Agents Early Phase 1
7 Lipid Regulating Agents Early Phase 1
8 Antimetabolites Early Phase 1
9 Astragalus Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Disease Gene Identification Unknown status NCT00916903
2 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1
3 Modifiers of Disease Severity in Cerebral Cavernous Malformations Recruiting NCT01764529
4 Implementing Health Plan-Level Care Management for Solo & Small Practices Active, not recruiting 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:

id Genetic test Affiliating Genes
1 Cerebral Cavernous Malformations 3 29

Anatomical Context for Cerebral Cavernous Malformations 3

MalaCards organs/tissues related to Cerebral Cavernous Malformations 3:

39
Brain

Publications for Cerebral Cavernous Malformations 3

Articles related to Cerebral Cavernous Malformations 3:

(show all 12)
id Title Authors Year
1
The cerebral cavernous malformation 3 gene is necessary for senescence induction. ( 25655101 )
2015
2
Structural basis for the unique heterodimeric assembly between cerebral cavernous malformation 3 and germinal center kinase III. ( 23665169 )
2013
3
Focal defects in single-celled tubes mutant for Cerebral cavernous malformation 3, GCKIII, or NSF2. ( 23763949 )
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
Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. ( 21321212 )
2011
6
Molecular recognition of leucine-aspartate repeat (LD) motifs by the focal adhesion targeting homology domain of cerebral cavernous malformation 3 (CCM3). ( 21632544 )
2011
7
Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. ( 20371769 )
2010
8
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
9
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
10
Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3. ( 19246713 )
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
id 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

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.23 CCM2 ITGB1BP1 KRIT1 MAP3K3 MOB4 PDCD10

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

id Name GO ID Score Top Affiliating Genes
1 integrin-mediated signaling pathway GO:0007229 9.16 CCM2 ITGB1BP1
2 positive regulation of Notch signaling pathway GO:0045747 8.96 ITGB1BP1 PDCD10
3 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 8.62 ITGB1BP1 PDCD10

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

id Name GO ID Score Top Affiliating Genes
1 kinase binding GO:0019900 8.96 ITGB1BP1 MOB4
2 protein complex binding GO:0032403 8.8 ITGB1BP1 KRIT1 STRN

Sources for Cerebral Cavernous Malformations 3

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