CCM3
MCID: CRB094
MIFTS: 41

Cerebral Cavernous Malformations 3 (CCM3)

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

Aliases & Classifications for Cerebral Cavernous Malformations 3

MalaCards integrated aliases for Cerebral Cavernous Malformations 3:

Name: Cerebral Cavernous Malformations 3 57 75 29 13 6 73
Ccm3 57 12 75
Cerebral Cavernous Malformation 3 12 15
Cerebral Cavernous Malformations, Type 3 40
Cavernous Angiomatous Malformations 75
Cavernous Hemangioma of the Brain 75
Cerebral Capillary Malformations 75
Familial Cavernous Angioma 75
Cerebral Cavernoma 75

Classifications:



External Ids:

OMIM 57 603285
Disease Ontology 12 DOID:0060671
ICD10 33 Q28.3
MedGen 42 C1864040
MeSH 44 D020786
UMLS 73 C1864040

Summaries for Cerebral Cavernous Malformations 3

UniProtKB/Swiss-Prot : 75 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 cerebral cavernous malformations 2 and cavernous hemangioma. An important gene associated with Cerebral Cavernous Malformations 3 is PDCD10 (Programmed Cell Death 10), and among its related pathways/superpathways are MAPK-Erk Pathway and p38 MAPK signaling pathway (Pathway Interaction Database). The drug Diazepam has been mentioned in the context of this disorder. Affiliated tissues include brain, testes and endothelial, and related phenotypes are seizures and paralysis

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 family:

Cerebral Cavernous Malformations 2 Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformation, Familial

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 2 31.5 CCM2 KRIT1 MAP3K3 PDCD10 SNRPB
2 cavernous hemangioma 31.4 CCM2 KRIT1 PDCD10
3 cerebral cavernous malformations 29.9 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10
4 cavernous malformation 29.9 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10
5 cerebral cavernous malformation, familial 11.4
6 vascular erectile tumor 11.0
7 congenital vascular cavernous malformations 11.0
8 familial hemangioma 11.0
9 hemangioma 10.1
10 cerebral hemorrhage 10.0
11 vascular disease 10.0
12 intracranial structure hemangioma 10.0 KRIT1 SNRPB
13 human venous malformation 10.0 CCM2 KRIT1 PDCD10
14 chiasmal syndrome 10.0
15 brain angioma 10.0 KRIT1 SNRPB
16 klippel-trenaunay-weber syndrome 10.0 CCM2 KRIT1 PDCD10
17 medulloblastoma 10.0
18 noonan syndrome 1 10.0
19 pseudo-turner syndrome 10.0
20 venous malformations, multiple cutaneous and mucosal 9.9 CCM2 KRIT1 PDCD10
21 vascular hemostatic disease 9.9 CCM2 KRIT1 SNRPB
22 cerebral angioma 9.9 KRIT1 SNRPB
23 cysticercosis 9.9
24 epilepsy 9.9
25 hyperglycemia 9.9
26 glioblastoma 9.9
27 cell type benign neoplasm 9.8 CCM2 KRIT1 PDCD10 SNRPB
28 central nervous system benign neoplasm 9.4 CCM2 ITGB1BP1 KRIT1 PDCD10 RAP1B SNRPB
29 nervous system benign neoplasm 9.4 CCM2 ITGB1BP1 KRIT1 PDCD10 RAP1B SNRPB

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
# Description HPO Frequency HPO Source Accession
1 seizures 32 frequent (33%) HP:0001250
2 paralysis 32 frequent (33%) HP:0003470
3 headache 32 frequent (33%) HP:0002315
4 cerebral hemorrhage 32 frequent (33%) HP:0001342
5 abnormality of the cerebrum 32 obligate (100%) HP:0002060

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 CCM2 KRIT1 MAP3K3 PDCD10 RAP1B STRN
2 mortality/aging MP:0010768 9.17 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10 RAP1B

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 Not Applicable 439-14-5 3016

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Modifiers of Disease Severity in Cerebral Cavernous Malformations Recruiting NCT01764529
2 Implementing Health Plan-Level Care Management for Solo & Small Practices Completed NCT02041962 Not Applicable
3 CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness Recruiting NCT03652181
4 Covers to Improve Esthetic Outcome After Surgery for Chronic Subdural Hematoma Not yet recruiting NCT03755349 Not Applicable

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 29 PDCD10

Anatomical Context for Cerebral Cavernous Malformations 3

MalaCards organs/tissues related to Cerebral Cavernous Malformations 3:

41
Brain, Testes, Endothelial, Neutrophil

Publications for Cerebral Cavernous Malformations 3

Articles related to Cerebral Cavernous Malformations 3:

(show all 24)
# Title Authors Year
1
Arsenic exposure assists ccm3 genetic polymorphism in elevating blood pressure. ( 29435151 )
2018
2
Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening. ( 30549232 )
2018
3
EphB4 forward signalling mediates angiogenesis caused by CCM3/PDCD10-ablation. ( 28371279 )
2017
4
CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations. ( 26896283 )
2016
5
Arsenic-induced anti-angiogenesis via miR-425-5p-regulated CCM3. ( 27132035 )
2016
6
The cerebral cavernous malformation 3 gene is necessary for senescence induction. ( 25655101 )
2015
7
Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas. ( 25462093 )
2015
8
Expression of CCM2 and CCM3 during mouse gonadogenesis. ( 26386873 )
2015
9
Focal defects in single-celled tubes mutant for Cerebral cavernous malformation 3, GCKIII, or NSF2. ( 23763949 )
2013
10
Structural basis for the unique heterodimeric assembly between cerebral cavernous malformation 3 and germinal center kinase III. ( 23665169 )
2013
11
CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas. ( 23801932 )
2013
12
The CCM3-GCKIII partnership. ( 23744102 )
2013
13
A network of interactions enables CCM3 and STK24 to coordinate UNC13D-driven vesicle exocytosis in neutrophils. ( 24176643 )
2013
14
Molecular recognition of leucine-aspartate repeat (LD) motifs by the focal adhesion targeting homology domain of cerebral cavernous malformation 3 (CCM3). ( 21632544 )
2011
15
Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. ( 21321212 )
2011
16
Presence of the brain proteins cerebral cavernous malformation-2 and cerebral cavernous malformation-3 in rat testes and their potential role in experimental varicocele. ( 19647235 )
2010
17
Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. ( 20371769 )
2010
18
Differential angiogenesis function of CCM2 and CCM3 in cerebral cavernous malformations. ( 20809750 )
2010
19
Gyrate: CCM3 dances with a different angiogenic partner. ( 20484115 )
2010
20
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
21
Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3. ( 19246713 )
2009
22
Fishing for domains of the CCM3 protein. ( 19479955 )
2009
23
PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit. ( 18496199 )
2008
24
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 47)
# 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_007217.3(PDCD10): c.96+865A> C single nucleotide variant not provided rs779988645 GRCh37 Chromosome 3, 167436985: 167436985
9 PDCD10 NM_007217.3(PDCD10): c.96+865A> C single nucleotide variant not provided rs779988645 GRCh38 Chromosome 3, 167719197: 167719197
10 PDCD10 NM_007217.3(PDCD10): c.96+5295_96+5296insT insertion not provided rs890418416 GRCh37 Chromosome 3, 167432555: 167432555
11 PDCD10 NM_007217.3(PDCD10): c.96+5295_96+5296insT insertion not provided rs890418416 GRCh38 Chromosome 3, 167714766: 167714767
12 PDCD10 NM_007217.3(PDCD10): c.150+2693T> C single nucleotide variant not provided rs374384046 GRCh37 Chromosome 3, 167419937: 167419937
13 PDCD10 NM_007217.3(PDCD10): c.150+2693T> C single nucleotide variant not provided rs374384046 GRCh38 Chromosome 3, 167702149: 167702149
14 PDCD10 NM_007217.3(PDCD10): c.-116-2132T> G single nucleotide variant not provided rs147072468 GRCh37 Chromosome 3, 167440193: 167440193
15 PDCD10 NM_007217.3(PDCD10): c.-116-2132T> G single nucleotide variant not provided rs147072468 GRCh38 Chromosome 3, 167722405: 167722405
16 PDCD10 NM_007217.3(PDCD10): c.151-2025A> G single nucleotide variant not provided rs773691623 GRCh37 Chromosome 3, 167416939: 167416939
17 PDCD10 NM_007217.3(PDCD10): c.151-2025A> G single nucleotide variant not provided rs773691623 GRCh38 Chromosome 3, 167699151: 167699151
18 PDCD10 NM_007217.3(PDCD10): c.96+6786_96+6787delTT deletion not provided rs577939683 GRCh37 Chromosome 3, 167431063: 167431064
19 PDCD10 NM_007217.3(PDCD10): c.96+6786_96+6787delTT deletion not provided rs577939683 GRCh38 Chromosome 3, 167713275: 167713276
20 PDCD10 NM_007217.3(PDCD10): c.96+4988C> G single nucleotide variant not provided rs748153515 GRCh37 Chromosome 3, 167432862: 167432862
21 PDCD10 NM_007217.3(PDCD10): c.96+4988C> G single nucleotide variant not provided rs748153515 GRCh38 Chromosome 3, 167715074: 167715074
22 PDCD10 NM_007217.3(PDCD10): c.-117+1010C> T single nucleotide variant not provided rs912904786 GRCh37 Chromosome 3, 167450992: 167450992
23 PDCD10 NM_007217.3(PDCD10): c.-117+1010C> T single nucleotide variant not provided rs912904786 GRCh38 Chromosome 3, 167733204: 167733204
24 PDCD10 NM_007217.3(PDCD10): c.96+4389A> G single nucleotide variant not provided rs541610164 GRCh37 Chromosome 3, 167433461: 167433461
25 PDCD10 NM_007217.3(PDCD10): c.96+4389A> G single nucleotide variant not provided rs541610164 GRCh38 Chromosome 3, 167715673: 167715673
26 PDCD10 NM_145860.1(PDCD10): c.558-2A> C single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 167402179: 167402179
27 PDCD10 NM_145860.1(PDCD10): c.558-2A> C single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 167684391: 167684391
28 PDCD10 NM_145860.1(PDCD10): c.160_163delGAAA (p.Glu54Ilefs) deletion Pathogenic GRCh37 Chromosome 3, 167414902: 167414905
29 PDCD10 NM_145860.1(PDCD10): c.557+4_557+7delAGTA deletion Pathogenic GRCh38 Chromosome 3, 167687227: 167687230
30 PDCD10 NM_145860.1(PDCD10): c.557+4_557+7delAGTA deletion Pathogenic GRCh37 Chromosome 3, 167405015: 167405018
31 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 3, 167687610: 167687610
32 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 3, 167405398: 167405398
33 PDCD10 NM_145860.1(PDCD10): c.160_163delGAAA (p.Glu54Ilefs) deletion Pathogenic GRCh38 Chromosome 3, 167697114: 167697117
34 PDCD10 NM_145860.1(PDCD10): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 167413457: 167413457
35 PDCD10 NM_145860.1(PDCD10): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 167695669: 167695669
36 PDCD10 NM_145860.1(PDCD10): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 167695690: 167695690
37 PDCD10 NM_145860.1(PDCD10): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 167413478: 167413478
38 PDCD10 NM_145860.1(PDCD10): c.510C> G (p.Tyr170Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 167687281: 167687281
39 PDCD10 NM_145860.1(PDCD10): c.510C> G (p.Tyr170Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 167405069: 167405069
40 PDCD10 NM_007217.3(PDCD10): c.575dup (p.Ser193Lysfs) duplication Likely pathogenic GRCh37 Chromosome 3, 167402160: 167402160
41 PDCD10 NM_007217.3(PDCD10): c.575dup (p.Ser193Lysfs) duplication Likely pathogenic GRCh38 Chromosome 3, 167684372: 167684372
42 PDCD10 NM_007217.3(PDCD10): c.333dup (p.Gln112Thrfs) duplication Pathogenic GRCh37 Chromosome 3, 167413446: 167413446
43 PDCD10 NM_007217.3(PDCD10): c.333dup (p.Gln112Thrfs) duplication Pathogenic GRCh38 Chromosome 3, 167695658: 167695658
44 PDCD10 NM_007217.3(PDCD10): c.584dup (p.Asn195Lysfs) duplication Uncertain significance GRCh37 Chromosome 3, 167402151: 167402151
45 PDCD10 NM_007217.3(PDCD10): c.584dup (p.Asn195Lysfs) duplication Uncertain significance GRCh38 Chromosome 3, 167684363: 167684363
46 PDCD10 NM_145860.1(PDCD10): c.474+4C> A single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 167405399: 167405399
47 PDCD10 NM_145860.1(PDCD10): c.474+4C> A single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 167687611: 167687611

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
Show member pathways
12.05 ITGB1BP1 MAP3K3 RAP1B
2 10.42 CCM2 MAP3K3
3 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 9.28 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10 RAP1B

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

# Name GO ID Score Top Affiliating Genes
1 integrin-mediated signaling pathway GO:0007229 9.37 CCM2 ITGB1BP1
2 positive regulation of Notch signaling pathway GO:0045747 9.32 ITGB1BP1 PDCD10
3 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.26 ITGB1BP1 PDCD10
4 positive regulation of intracellular protein transport GO:0090316 9.16 PDCD10 RIPOR1
5 regulation of establishment of cell polarity GO:2000114 8.96 KRIT1 RAP1B
6 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 9.61 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10 RAP1B
2 protein-containing complex binding GO:0044877 8.92 ITGB1BP1 KRIT1 RAP1B STRN

Sources for Cerebral Cavernous Malformations 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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