CCM3
MCID: CRB094
MIFTS: 39

Cerebral Cavernous Malformations 3 (CCM3)

Categories: Cardiovascular diseases, Fetal 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 74 29 13 6 72
Cerebral Cavernous Malformation 3 12 15
Ccm3 57 74
Cerebral Cavernous Malformations, Type 3 40
Cavernous Angiomatous Malformations 74
Cavernous Hemangioma of the Brain 74
Cerebral Capillary Malformations 74
Familial Cavernous Angioma 74
Cerebral Cavernoma 74

Characteristics:

HPO:

32
cerebral cavernous malformations 3:
Inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:0060671
OMIM 57 603285
MeSH 44 D020786
ICD10 33 Q28.3
MedGen 42 C1864040
UMLS 72 C1864040

Summaries for Cerebral Cavernous Malformations 3

UniProtKB/Swiss-Prot : 74 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 hemangioma and cerebral cavernous malformations. An important gene associated with Cerebral Cavernous Malformations 3 is PDCD10 (Programmed Cell Death 10). Affiliated tissues include brain, endothelial and testes, and related phenotypes are abnormality of the cerebrum and seizures

Disease Ontology : 12 A cerebral cavernous malformation that has material basis in mutation in the PDCD10 gene on chromosome 3q26.1.

More information 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 top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 hemangioma 29.9 KRIT1 CCM2
2 cerebral cavernous malformations 29.8 PDCD10 KRIT1 CCM2
3 cavernous malformation 29.8 PDCD10 KRIT1 CCM2
4 cavernous hemangioma 29.4 PDCD10 KRIT1 CCM2
5 cerebral cavernous malformations 2 29.2 PDCD10 KRIT1 CCM2
6 congenital vascular cavernous malformations 11.2
7 familial hemangioma 11.2
8 vascular erectile tumor 11.2
9 cerebral cavernous malformation, familial 10.2
10 cortical dysplasia, complex, with other brain malformations 7 10.2
11 varicocele 10.2
12 rare surgical neurologic disease 10.2
13 visual epilepsy 10.1
14 seizure disorder 10.1
15 epilepsy 10.0
16 headache 10.0
17 alzheimer disease 10.0
18 leukemia, acute lymphoblastic 10.0
19 hemorrhage, intracerebral 10.0
20 lymphocytic leukemia 10.0
21 neutropenia 10.0
22 thrombocytopenia 10.0
23 vascular disease 10.0
24 multiple sclerosis 10.0
25 arteriovenous malformation 10.0
26 retinal vascular disease 10.0
27 chiasmal syndrome 10.0
28 glial tumor 10.0
29 medulloblastoma 10.0
30 noonan syndrome 1 10.0
31 aortic coarctation 10.0
32 pseudo-turner syndrome 10.0
33 von hippel-lindau syndrome 9.9
34 alpha-ketoglutarate dehydrogenase deficiency 9.9
35 ocular motor apraxia 9.9
36 maturity-onset diabetes of the young 9.9
37 coronary heart disease 1 9.9
38 alacrima, achalasia, and mental retardation syndrome 9.9
39 pain agnosia 9.9
40 cysticercosis 9.9
41 hemiplegia 9.9
42 von willebrand's disease 9.9
43 leiomyoma 9.9
44 keratosis 9.9
45 kidney cancer 9.9
46 breast ductal carcinoma 9.9
47 glioblastoma multiforme 9.9
48 hyperglycemia 9.9
49 myofibroma 9.9
50 cutaneous fibrous histiocytoma 9.9

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

Human phenotypes related to Cerebral Cavernous Malformations 3:

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

Clinical features from OMIM:

603285

Drugs & Therapeutics for Cerebral Cavernous Malformations 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations Recruiting NCT01764529

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, Endothelial, Testes, Heart, Skin, Kidney, Placenta

Publications for Cerebral Cavernous Malformations 3

Articles related to Cerebral Cavernous Malformations 3:

(show top 50) (show all 205)
# Title Authors PMID Year
1
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. 38 8 71
18060436 2008
2
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. 38 8 71
15543491 2005
3
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. 38 8
19088123 2009
4
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. 38 8
19088124 2009
5
Genotype-phenotype correlations in cerebral cavernous malformations patients. 38 8
17041941 2006
6
CCM3 mutations are uncommon in cerebral cavernous malformations. 38 8
16380626 2005
7
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. 38 8
9811928 1998
8
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 71
25355838 2014
9
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 71
20298421 2010
10
Cerebral Cavernous Malformation, Familial 71
20301470 2003
11
Transcriptome clarifies mechanisms of lesion genesis versus progression in models of Ccm3 cerebral cavernous malformations. 38
31426861 2019
12
CCM3 and cerebral cavernous malformation disease. 38
31338212 2019
13
Low fluid shear stress conditions contribute to activation of cerebral cavernous malformation signalling pathways. 38
31369819 2019
14
First case of neutropenia and thrombocytopenia in the setting of cerebral cavernous malformation 3. 38
30904992 2019
15
Cavernous angiomas: deconstructing a neurosurgical disease. 38
31261134 2019
16
Endothelial cell clonal expansion in the development of cerebral cavernous malformations. 38
31235698 2019
17
CDC42 Deletion Elicits Cerebral Vascular Malformations via Increased MEKK3-Dependent KLF4 Expression. 38
30732528 2019
18
Emerging Pharmacologic Targets in Cerebral Cavernous Malformation and Potential Strategies to Alter the Natural History of a Difficult Disease: A Review. 38
30476961 2019
19
Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening. 38
30549232 2019
20
Phenotypic characterization of murine models of cerebral cavernous malformations. 38
29946133 2019
21
Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family. 38
30701383 2019
22
Rho Kinase Inhibition Blunts Lesion Development and Hemorrhage in Murine Models of Aggressive Pdcd10/Ccm3 Disease. 38
30744543 2019
23
A novel large deletion in CCM1 gene in a Tunisian family. 38
30314744 2019
24
Comprehensive transcriptome analysis of cerebral cavernous malformation across multiple species and genotypes. 38
30728328 2019
25
The STRIPAK complex components FAM40A and FAM40B regulate endothelial cell contractility via ROCKs. 38
30509168 2018
26
Ponatinib (AP24534) inhibits MEKK3-KLF signaling and prevents formation and progression of cerebral cavernous malformations. 38
30417093 2018
27
Systematic pharmacological screens uncover novel pathways involved in cerebral cavernous malformations. 38
30181117 2018
28
Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells. 38
30359189 2018
29
Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan. 38
29787619 2018
30
Vascular Endothelial (VE)-Cadherin, Endothelial Adherens Junctions, and Vascular Disease. 38
28851747 2018
31
Interrogating the ccm-3 Gene Network. 38
30208312 2018
32
Connexin 43 gap junctions contribute to brain endothelial barrier hyperpermeability in familial cerebral cavernous malformations type III by modulating tight junction structure. 38
29295866 2018
33
[Cerebral cavernous malformation 3 gene deficiency promotes early changes in Alzheimer disease-like lesions induced by low lead exposure]. 38
29747348 2018
34
Lead promotes abnormal angiogenesis induced by CCM3 gene defects via mitochondrial pathway. 38
29110746 2018
35
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling. 38
29593473 2018
36
Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis. 38
29364115 2018
37
Arsenic exposure assists ccm3 genetic polymorphism in elevating blood pressure. 38
29435151 2018
38
A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation. 38
29887830 2018
39
A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation. 38
29169046 2018
40
Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations. 38
30622508 2018
41
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing. 38
29197946 2018
42
Recent advances in cerebral cavernous malformation research. 38
31360916 2018
43
Molecular diagnosis in cerebral cavernous malformations. 38
26304651 2017
44
Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis. 38
28602929 2017
45
Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model. 38
28892037 2017
46
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations. 38
28870584 2017
47
High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations. 38
28645800 2017
48
EphB4 forward signalling mediates angiogenesis caused by CCM3/PDCD10-ablation. 38
28371279 2017
49
Combined HMG-COA reductase and prenylation inhibition in treatment of CCM. 38
28500274 2017
50
Endothelial cell disease: emerging knowledge from cerebral cavernous malformations. 38
28212190 2017

Variations for Cerebral Cavernous Malformations 3

ClinVar genetic disease variations for Cerebral Cavernous Malformations 3:

6 (show all 30)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PDCD10 NM_007217.4(PDCD10): c.103C> T (p.Arg35Ter) single nucleotide variant Pathogenic rs1057517786 3:167422677-167422677 3:167704889-167704889
2 PDCD10 PDCD10, 586C-T single nucleotide variant Pathogenic
3 PDCD10 PDCD10, 385C-T single nucleotide variant Pathogenic
4 PDCD10 PDCD10, 103C-T single nucleotide variant Pathogenic
5 PDCD10 PDCD10, 54-BP DEL deletion Pathogenic
6 PDCD10 PDCD10, 4-BP DEL deletion Pathogenic
7 PDCD10 PDCD10, IVS8AS, G-A, -1 single nucleotide variant Pathogenic
8 PDCD10 PDCD10, DEL deletion Pathogenic
9 PDCD10 NM_007217.4(PDCD10): c.160_163del (p.Glu54fs) deletion Pathogenic rs1553761266 3:167414902-167414905 3:167697114-167697117
10 PDCD10 NM_007217.4(PDCD10): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic rs1553760900 3:167413457-167413457 3:167695669-167695669
11 PDCD10 NM_007217.4(PDCD10): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic rs1303470125 3:167413478-167413478 3:167695690-167695690
12 PDCD10 NM_145860.1(PDCD10): c.557+4_557+7delAGTA deletion Pathogenic rs1553759042 3:167405015-167405018 3:167687227-167687230
13 PDCD10 NM_007217.4(PDCD10): c.333dup (p.Gln112fs) duplication Pathogenic 3:167413446-167413446 3:167695658-167695658
14 PDCD10 NM_007217.4(PDCD10): c.394A> T (p.Lys132Ter) single nucleotide variant Pathogenic 3:167413385-167413385 3:167695597-167695597
15 PDCD10 NC_000003.11: g.(?_167402076)_(167437965_?)del deletion Pathogenic 3:167402076-167437965 3:167684288-167720177
16 PDCD10 NM_007217.4(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs1553759139 3:167405398-167405398 3:167687610-167687610
17 PDCD10 NM_007217.4(PDCD10): c.510C> G (p.Tyr170Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1553759059 3:167405069-167405069 3:167687281-167687281
18 PDCD10 NM_007217.4(PDCD10): c.575dup (p.Ser193fs) duplication Likely pathogenic 3:167402160-167402160 3:167684372-167684372
19 PDCD10 NM_007217.4(PDCD10): c.584dup (p.Asn195fs) duplication Uncertain significance 3:167402151-167402151 3:167684363-167684363
20 PDCD10 NM_007217.4(PDCD10): c.474+4C> A single nucleotide variant Uncertain significance 3:167405399-167405399 3:167687611-167687611
21 PDCD10 NM_007217.4(PDCD10): c.558-2A> C single nucleotide variant Uncertain significance rs1553758385 3:167402179-167402179 3:167684391-167684391
22 PDCD10 NM_007217.4(PDCD10): c.96+865A> C single nucleotide variant not provided rs779988645 3:167436985-167436985 3:167719197-167719197
23 PDCD10 NM_007217.4(PDCD10): c.96+5292dup duplication not provided rs890418416 3:167432555-167432555 3:167714766-167714767
24 PDCD10 NM_007217.4(PDCD10): c.150+2693T> C single nucleotide variant not provided rs374384046 3:167419937-167419937 3:167702149-167702149
25 PDCD10 NM_007217.4(PDCD10): c.-116-2132T> G single nucleotide variant not provided rs147072468 3:167440193-167440193 3:167722405-167722405
26 PDCD10 NM_007217.4(PDCD10): c.151-2025A> G single nucleotide variant not provided rs773691623 3:167416939-167416939 3:167699151-167699151
27 PDCD10 NM_007217.4(PDCD10): c.96+6786_96+6787del deletion not provided rs577939683 3:167431063-167431064 3:167713275-167713276
28 PDCD10 NM_007217.4(PDCD10): c.96+4988C> G single nucleotide variant not provided rs748153515 3:167432862-167432862 3:167715074-167715074
29 PDCD10 NM_007217.4(PDCD10): c.-117+1010C> T single nucleotide variant not provided rs912904786 3:167450992-167450992 3:167733204-167733204
30 PDCD10 NM_007217.4(PDCD10): c.96+4389A> G single nucleotide variant not provided rs541610164 3:167433461-167433461 3:167715673-167715673

Expression for Cerebral Cavernous Malformations 3

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

Pathways for Cerebral Cavernous Malformations 3

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 9.17 STRN STRIP2 RIPOR1 PDCD10 MOB4 KRIT1

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 intracellular protein transport GO:0090316 8.96 RIPOR1 PDCD10
2 establishment of Golgi localization GO:0051683 8.62 RIPOR1 PDCD10

Sources for Cerebral Cavernous Malformations 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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