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CCM2
MCID: CRB191
MIFTS: 54

Cerebral Cavernous Malformations 2 (CCM2)

Categories: Cardiovascular diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cerebral Cavernous Malformations 2

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MalaCards integrated aliases for Cerebral Cavernous Malformations 2:

Name: Cerebral Cavernous Malformations 2 58 76 30 6 74
Cerebral Cavernous Malformations-2 58 13
Cerebral Cavernous Malformation 2 12 15
Ccm2 58 76
Cerebral Cavernous Malformations, Type 2 41
Cavernous Angiomatous Malformations 76
Cavernous Hemangioma of the Brain 76
Cerebral Capillary Malformations 76
Familial Cavernous Angioma 76
Cerebral Cavernoma 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see for summary)
sporadic cases often single lesions versus multiple lesions in familial cases


HPO:

33
cerebral cavernous malformations 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34


Sources

Summaries for Cerebral Cavernous Malformations 2

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UniProtKB/Swiss-Prot : 76 Cerebral cavernous malformations 2: 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 2, also known as cerebral cavernous malformations-2, is related to cavernous hemangioma and klippel-trenaunay-weber syndrome, and has symptoms including seizures and headache recurrent. An important gene associated with Cerebral Cavernous Malformations 2 is CCM2 (CCM2 Scaffold Protein), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drug Diazepam has been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and placenta, and related phenotypes are seizures and headache

Disease Ontology : 12 A cerebral cavernous malformation that_has_material_basis in mutation in the CCM2 gene on chromosome 7p13.

Description from OMIM: 603284
Sources

Related Diseases for Cerebral Cavernous Malformations 2

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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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 cavernous hemangioma 33.0 CCM2 KRIT1 PDCD10
2 klippel-trenaunay-weber syndrome 32.2 CCM2 KRIT1 PDCD10
3 cerebral cavernous malformations 3 32.1 CCM2 KRIT1 MAP3K3 PDCD10 SNRPB
4 venous malformations, multiple cutaneous and mucosal 32.1 CCM2 KRIT1 PDCD10
5 vascular hemostatic disease 32.1 CCM2 KRIT1 SNRPB
6 cerebral cavernous malformations 30.4 CCM2 CCM2L KRIT1 MAP3K3 PDCD10
7 cavernous malformation 30.2 CCM2 CCM2L KRIT1 MAP3K3 PDCD10
8 human venous malformation 30.2 CCM2 KRIT1 PDCD10
9 vascular disease 11.5
10 cerebral cavernous malformation, familial 11.4
11 hemorrhage, intracerebral 11.2
12 culler-jones syndrome 11.2
13 vascular erectile tumor 11.1
14 congenital vascular cavernous malformations 11.1
15 familial hemangioma 11.1
16 intracranial structure hemangioma 10.3 KRIT1 SNRPB
17 brain angioma 10.3 KRIT1 SNRPB
18 cerebral angioma 10.2 KRIT1 SNRPB
19 hemangioma 10.1
20 cell type benign neoplasm 10.1 CCM2 KRIT1 PDCD10 SNRPB
21 epilepsy 10.1
22 bowenoid papulosis 10.1
23 heparin-induced thrombocytopenia 10.1
24 askin's tumor 10.0 NGF NTRK1
25 prolactin producing pituitary tumor 10.0 NGF NTRK1
26 pediatric fibrosarcoma 10.0 NTRK1 NTRK3
27 chiasmal syndrome 10.0
28 medulloblastoma 10.0
29 noonan syndrome 1 10.0
30 pseudo-turner syndrome 10.0
31 von hippel-lindau syndrome 9.9
32 bornholm eye disease 9.9
33 cysticercosis 9.9
34 arteriovenous malformation 9.9
35 hyperglycemia 9.9
36 glioblastoma 9.9
37 neuropathy, hereditary sensory and autonomic, type v 9.9 NGF NTRK1 RHOA
38 conjunctival nevus 9.8 NGF NTRK1
39 central nervous system benign neoplasm 9.7 CCM2 KRIT1 PDCD10 SNRPB STK25

Graphical network of the top 20 diseases related to Cerebral Cavernous Malformations 2:



Diseases related to Cerebral Cavernous Malformations 2
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Symptoms & Phenotypes for Cerebral Cavernous Malformations 2

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Human phenotypes related to Cerebral Cavernous Malformations 2:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 headache 33 HP:0002315
3 stroke 33 HP:0001297
4 cerebral hemorrhage 33 HP:0001342
5 telangiectasia 33 HP:0001009

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
cerebral cavernous malformations
recurrent headaches
hemorrhagic stroke

Skin Nails Hair Skin:
palmar telangiectases (described in 1 family)

Clinical features from OMIM:

603284

UMLS symptoms related to Cerebral Cavernous Malformations 2:


seizures, headache recurrent

GenomeRNAi Phenotypes related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.57 MAP2K3 MAP4K2
2 Decreased viability GR00107-A-1 10.57 STK25
3 Decreased viability GR00173-A 10.57 MAP2K3
4 Decreased viability GR00221-A-1 10.57 MAP2K4 MAP4K2 MAP3K3 STK24
5 Decreased viability GR00221-A-2 10.57 MAP4K2 MAP3K3 NTRK3 STK24
6 Decreased viability GR00221-A-3 10.57 MAP2K3 MAP2K4 MAP2K6 MAP4K2 NTRK1
7 Decreased viability GR00221-A-4 10.57 MAP2K4 MAP2K6 MAP4K2 MAP3K3 NTRK3 STK24
8 Decreased viability GR00231-A 10.57 MAP2K4
9 Decreased viability GR00301-A 10.57 MAP2K4 NTRK1 STK25
10 Decreased viability GR00402-S-2 10.57 MAP2K3 MAP2K4 MAP2K6 MAP4K2 NTRK1 MAP3K3
11 Increased cell viability after pRB stimulation GR00230-A-1 9.5 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
12 Increased mitotic index GR00110-A-0 8.8 MAP2K4 MAP3K3 NTRK3

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.13 CCM2 CCM2L KRIT1 MAP2K3 MAP2K4 MAP3K3
2 cardiovascular system MP:0005385 10.02 CCM2 CCM2L KRIT1 MAP2K4 MAP3K3 NGF
3 hematopoietic system MP:0005397 10.02 CCM2 MAP2K3 MAP2K4 MAP2K6 MAP3K3 NTRK1
4 muscle MP:0005369 9.7 CCM2 CCM2L KRIT1 MAP3K3 NGF NTRK1
5 nervous system MP:0003631 9.7 CCM2 KRIT1 MAP2K4 NGF NTRK1 NTRK3
6 normal MP:0002873 9.28 CCM2 CCM2L MAP2K4 NGF NTRK1 NTRK3
Sources

Drugs & Therapeutics for Cerebral Cavernous Malformations 2

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Drugs for Cerebral Cavernous Malformations 2 (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

Search NIH Clinical Center for Cerebral Cavernous Malformations 2

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Genetic Tests for Cerebral Cavernous Malformations 2

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Genetic tests related to Cerebral Cavernous Malformations 2:

# Genetic test Affiliating Genes
1 Cerebral Cavernous Malformations 2 30 CCM2
Sources

Anatomical Context for Cerebral Cavernous Malformations 2

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MalaCards organs/tissues related to Cerebral Cavernous Malformations 2:

42
Brain, Endothelial, Placenta, Eye, Heart
Sources

Publications for Cerebral Cavernous Malformations 2

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Articles related to Cerebral Cavernous Malformations 2:

(show top 50) (show all 56)
# Title Authors Year
1
Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family. ( 30701383 )
2019
2
Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan. ( 29787619 )
2018
3
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance. ( 30487773 )
2018
4
Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations. ( 30622508 )
2018
5
The CCM1-CCM2 complex controls complementary functions of ROCK1 and ROCK2 that are required for endothelial integrity. ( 30030370 )
2018
6
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. ( 28645800 )
2017
7
A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds. ( 27277535 )
2017
8
CCM2 and PAK4 act downstream of atrial natriuretic peptide signaling to promote cell spreading. ( 28432261 )
2017
9
A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation. ( 27708576 )
2016
10
Micro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient Mice. ( 27513872 )
2016
11
The cerebral cavernous malformation proteins CCM2L and CCM2 prevent the activation of the MAP kinase MEKK3. ( 26540726 )
2015
12
PTEN/PI3K/Akt/VEGF signaling and the cross talk to KRIT1, CCM2, and PDCD10 proteins in cerebral cavernous malformations. ( 25403688 )
2015
13
Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations. ( 25525273 )
2015
14
Structure and vascular function of MEKK3-cerebral cavernous malformations 2 complex. ( 26235885 )
2015
15
CCM2-CCM3 interaction stabilizes their protein expression and permits endothelial network formation. ( 25825518 )
2015
16
Expression of CCM2 and CCM3 during mouse gonadogenesis. ( 26386873 )
2015
17
A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas. ( 25869611 )
2015
18
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. ( 25355838 )
2014
19
Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: a causative mutation? ( 23000020 )
2013
20
Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus. ( 23266514 )
2013
21
ccm2-like is required for cardiovascular development as a novel component of the Heg-CCM pathway. ( 23328253 )
2013
22
CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study. ( 22378217 )
2012
23
Crystallization and preliminary X-ray analysis of the C-terminal domain of CCM2, part of a novel adaptor protein involved in cerebral cavernous malformations. ( 22684070 )
2012
24
Ccm3 functions in a manner distinct from Ccm1 and Ccm2 in a zebrafish model of CCM vascular disease. ( 22182521 )
2012
25
STK25 protein mediates TrkA and CCM2 protein-dependent death in pediatric tumor cells of neural origin. ( 22782892 )
2012
26
Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation. ( 21029238 )
2011
27
A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. ( 21543988 )
2011
28
Conditional deletion of Ccm2 causes hemorrhage in the adult brain: a mouse model of human cerebral cavernous malformations. ( 21596842 )
2011
29
Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice. ( 21859843 )
2011
30
CCM2 expression during prenatal development and adult human neocortex. ( 21569831 )
2011
31
Differential angiogenesis function of CCM2 and CCM3 in cerebral cavernous malformations. ( 20809750 )
2010
32
Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation. ( 20419355 )
2010
33
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. ( 20298421 )
2010
34
Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation. ( 19475721 )
2009
35
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. ( 19088124 )
2009
36
Familial cerebral cavernous malformations associated with a splice-site CCM2 deletion. ( 19224312 )
2009
37
Tissue-specific conditional CCM2 knockout mice establish the essential role of endothelial CCM2 in angiogenesis: implications for human cerebral cavernous malformations. ( 19259391 )
2009
38
CCM2 and CCM3 proteins contribute to vasculogenesis and angiogenesis in human placenta. ( 19688696 )
2009
39
Live or let die: CCM2 provides the link. ( 19755097 )
2009
40
CCM2 mediates death signaling by the TrkA receptor tyrosine kinase. ( 19755102 )
2009
41
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex. ( 18300272 )
2008
42
Gene symbol: CCM2. Disease: Cerebral Cavernous Malformations. ( 18846607 )
2008
43
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. ( 18060436 )
2008
44
Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene). ( 17345049 )
2007
45
Deletions in CCM2 are a common cause of cerebral cavernous malformations. ( 17160895 )
2007
46
CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations. ( 17657516 )
2007
47
Mouse preimplantation embryo responses to culture medium osmolarity include increased expression of CCM2 and p38 MAPK activation. ( 17214902 )
2007
48
Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations. ( 17440989 )
2007
49
Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations. ( 16465592 )
2006
50
CCM2 expression parallels that of CCM1. ( 16373645 )
2006
Sources

Variations for Cerebral Cavernous Malformations 2

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UniProtKB/Swiss-Prot genetic disease variations for Cerebral Cavernous Malformations 2:

76
# Symbol AA change Variation ID SNP ID
1 CCM2 p.Leu198Arg VAR_023577 rs137852843
2 CCM2 p.Gln215His VAR_067352
3 CCM2 p.Leu229Gln VAR_067353

ClinVar genetic disease variations for Cerebral Cavernous Malformations 2:

6 (show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCM2 NM_031443.3(CCM2): c.23delG (p.Gly8Alafs) deletion Pathogenic GRCh37 Chromosome 7, 45039955: 45039955
2 CCM2 NM_031443.3(CCM2): c.23delG (p.Gly8Alafs) deletion Pathogenic GRCh38 Chromosome 7, 45000356: 45000356
3 CCM2 NM_031443.3(CCM2): c.319C> T (p.Gln107Ter) single nucleotide variant Pathogenic rs137852841 GRCh37 Chromosome 7, 45104092: 45104092
4 CCM2 NM_031443.3(CCM2): c.319C> T (p.Gln107Ter) single nucleotide variant Pathogenic rs137852841 GRCh38 Chromosome 7, 45064493: 45064493
5 CCM2 CCM2, 4-BP DEL, NT169 deletion Pathogenic
6 CCM2 NM_031443.3(CCM2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs137852842 GRCh37 Chromosome 7, 45039933: 45039933
7 CCM2 NM_031443.3(CCM2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs137852842 GRCh38 Chromosome 7, 45000334: 45000334
8 CCM2 NM_031443.3(CCM2): c.288+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 7, 45103601: 45103601
9 CCM2 NM_031443.3(CCM2): c.288+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 7, 45064002: 45064002
10 CCM2 NM_001029835.2(CCM2): c.656T> G (p.Leu219Arg) single nucleotide variant Pathogenic rs137852843 GRCh37 Chromosome 7, 45108162: 45108162
11 CCM2 NM_001029835.2(CCM2): c.656T> G (p.Leu219Arg) single nucleotide variant Pathogenic rs137852843 GRCh38 Chromosome 7, 45068563: 45068563
12 CCM2 nsv513784 deletion Pathogenic
13 CCM2 CCM2, IVS1, GC-TT, +5 undetermined variant Pathogenic
14 CCM2 NM_031443.3(CCM2): c.30+5_30+6delGCinsTT indel Pathogenic rs797044623 GRCh37 Chromosome 7, 45039967: 45039968
15 CCM2 NM_031443.3(CCM2): c.30+5_30+6delGCinsTT indel Pathogenic rs797044623 GRCh38 Chromosome 7, 45000368: 45000369
16 CCM2 7p13 deletion (77.6 kb) deletion Pathogenic
17 CCM2 NM_031443.3(CCM2): c.157G> A (p.Val53Ile) single nucleotide variant Benign rs2107732 GRCh37 Chromosome 7, 45077978: 45077978
18 CCM2 NM_031443.3(CCM2): c.157G> A (p.Val53Ile) single nucleotide variant Benign rs2107732 GRCh38 Chromosome 7, 45038379: 45038379
19 CCM2 NM_031443.3(CCM2): c.358G> A (p.Val120Ile) single nucleotide variant Benign rs11552377 GRCh37 Chromosome 7, 45104131: 45104131
20 CCM2 NM_031443.3(CCM2): c.358G> A (p.Val120Ile) single nucleotide variant Benign rs11552377 GRCh38 Chromosome 7, 45064532: 45064532
21 CCM2 NM_031443.3(CCM2): c.915G> A (p.Thr305=) single nucleotide variant Benign rs2289367 GRCh37 Chromosome 7, 45113170: 45113170
22 CCM2 NM_031443.3(CCM2): c.915G> A (p.Thr305=) single nucleotide variant Benign rs2289367 GRCh38 Chromosome 7, 45073571: 45073571
23 CCM2 NM_001029835.2(CCM2): c.267+2040T> C single nucleotide variant not provided rs564132631 GRCh37 Chromosome 7, 45080065: 45080065
24 CCM2 NM_001029835.2(CCM2): c.267+2040T> C single nucleotide variant not provided rs564132631 GRCh38 Chromosome 7, 45040466: 45040466
25 CCM2 NM_031443.3(CCM2): c.205-11867_205-11864delTAAG deletion not provided rs547206569 GRCh37 Chromosome 7, 45091650: 45091653
26 CCM2 NM_031443.3(CCM2): c.205-11867_205-11864delTAAG deletion not provided rs547206569 GRCh38 Chromosome 7, 45052051: 45052054
27 CCM2 NM_001029835.2(CCM2): c.351+179G> C single nucleotide variant not provided rs137874552 GRCh37 Chromosome 7, 45103779: 45103779
28 CCM2 NM_001029835.2(CCM2): c.351+179G> C single nucleotide variant not provided rs137874552 GRCh38 Chromosome 7, 45064180: 45064180
29 CCM2 NM_031443.3(CCM2): c.31-18122A> T single nucleotide variant not provided rs182880220 GRCh37 Chromosome 7, 45059730: 45059730
30 CCM2 NM_031443.3(CCM2): c.31-18122A> T single nucleotide variant not provided rs182880220 GRCh38 Chromosome 7, 45020131: 45020131
31 CCM2 NM_031443.3(CCM2): c.31-14922C> T single nucleotide variant not provided rs776682467 GRCh37 Chromosome 7, 45062930: 45062930
32 CCM2 NM_031443.3(CCM2): c.31-14922C> T single nucleotide variant not provided rs776682467 GRCh38 Chromosome 7, 45023331: 45023331
33 CCM2 NM_031443.3(CCM2): c.30+2639G> A single nucleotide variant not provided rs181735976 GRCh37 Chromosome 7, 45042601: 45042601
34 CCM2 NM_031443.3(CCM2): c.30+2639G> A single nucleotide variant not provided rs181735976 GRCh38 Chromosome 7, 45003002: 45003002
35 CCM2 NM_031443.3(CCM2): c.-613A> G single nucleotide variant not provided rs1554353188 GRCh37 Chromosome 7, 45039320: 45039320
36 CCM2 NM_031443.3(CCM2): c.-613A> G single nucleotide variant not provided rs1554353188 GRCh38 Chromosome 7, 44999721: 44999721
37 CCM2 NM_031443.3(CCM2): c.30+4465C> T single nucleotide variant not provided rs1554354900 GRCh37 Chromosome 7, 45044427: 45044427
38 CCM2 NM_031443.3(CCM2): c.30+4465C> T single nucleotide variant not provided rs1554354900 GRCh38 Chromosome 7, 45004828: 45004828
39 CCM2 NM_031443.3(CCM2): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs755800734 GRCh38 Chromosome 7, 45038277: 45038277
40 CCM2 NM_031443.3(CCM2): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs755800734 GRCh37 Chromosome 7, 45077876: 45077876
41 CCM2 NM_031443.3(CCM2): c.42_43insATTTAAACGAGTATTTAAA (p.Ser15Ilefs) insertion Pathogenic rs1554365511 GRCh38 Chromosome 7, 45038264: 45038265
42 CCM2 NM_031443.3(CCM2): c.42_43insATTTAAACGAGTATTTAAA (p.Ser15Ilefs) insertion Pathogenic rs1554365511 GRCh37 Chromosome 7, 45077863: 45077864
43 CCM2 NM_031443.3(CCM2): c.612C> T (p.Val204=) single nucleotide variant Likely benign rs181474100 GRCh37 Chromosome 7, 45109427: 45109427
44 CCM2 NM_031443.3(CCM2): c.612C> T (p.Val204=) single nucleotide variant Likely benign rs181474100 GRCh38 Chromosome 7, 45069828: 45069828
45 CCM2 NC_000007.14: g.(?_45038253)_(45076470_?)del deletion Pathogenic GRCh37 Chromosome 7, 45077852: 45116069
46 CCM2 NC_000007.14: g.(?_45038253)_(45076470_?)del deletion Pathogenic GRCh38 Chromosome 7, 45038253: 45076470
47 CCM2 NM_031443.3(CCM2): c.31-2A> G single nucleotide variant Likely pathogenic rs1554365507 GRCh38 Chromosome 7, 45038251: 45038251
48 CCM2 NM_031443.3(CCM2): c.31-2A> G single nucleotide variant Likely pathogenic rs1554365507 GRCh37 Chromosome 7, 45077850: 45077850
49 CCM2 NM_031443.3(CCM2): c.635T> C (p.Leu212Pro) single nucleotide variant Likely pathogenic rs1554377652 GRCh37 Chromosome 7, 45109450: 45109450
50 CCM2 NM_031443.3(CCM2): c.635T> C (p.Leu212Pro) single nucleotide variant Likely pathogenic rs1554377652 GRCh38 Chromosome 7, 45069851: 45069851
Sources

Expression for Cerebral Cavernous Malformations 2

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Search GEO for disease gene expression data for Cerebral Cavernous Malformations 2.
Sources

Pathways for Cerebral Cavernous Malformations 2

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Pathways related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 65
Show member pathways
 13.87 MAP2K3 MAP2K4 MAP2K6 MAP3K3 NGF NTRK1
2
GPCR Pathway 65
Show member pathways
 13.74 MAP2K3 MAP2K4 MAP2K6 MAP3K3 NGF NTRK1
3
TGF-Beta Pathway 65
Show member pathways
 13.53 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NGF
4
Akt Signaling 65
Show member pathways
 13.42 MAP2K3 MAP2K6 MAP3K3 NGF NTRK1 NTRK3
5
PAK Pathway 65
Show member pathways
 13.32 MAP2K4 MAP3K3 NGF NTRK1 NTRK3 RAP1A
6
CREB Pathway 65
Show member pathways
 13.32 MAP2K3 MAP2K4 MAP2K6 NGF NTRK1 NTRK3
7
Nanog in Mammalian ESC Pluripotency 65
Show member pathways
 13.27 MAP2K3 MAP2K4 MAP2K6 NGF NTRK1 NTRK3
8
IL-2 Pathway 65
Show member pathways
 13.21 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RAP1A RHOA
9
p70S6K Signaling 65
Show member pathways
 13.06 MAP2K3 MAP2K4 MAP2K6 NGF NTRK1 NTRK3
10
Development Angiotensin activation of ERK 23
Show member pathways
 12.94 MAP2K3 MAP2K4 MAP2K6 MAP3K3 NGF RAP1A
11
TNFR1 Pathway 65
Show member pathways
 12.94 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NGF
12
Sertoli-Sertoli Cell Junction Dynamics 65
Show member pathways
 12.93 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RHOA SMURF1
13
TCR Signaling (Qiagen) 65
Show member pathways
 12.91 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RHOA
14
Focal Adhesion 1 38
Show member pathways
 12.91 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RAP1A RHOA
15
Apoptosis Modulation and Signaling 1
Show member pathways
 12.82 MAP2K3 MAP2K4 MAP3K3 NGF NTRK1
16
MAPK-Erk Pathway 68
Show member pathways
 12.82 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RAP1A RHOA
17
NFAT and Cardiac Hypertrophy 65
Show member pathways
 12.77 MAP2K3 MAP2K4 MAP2K6 MAP3K3 NTRK1 NTRK3
18
Ras signaling pathway 38
Show member pathways
 12.7 KRIT1 MAP2K3 MAP2K6 NGF NTRK1 RAP1A
19
Development HGF signaling pathway 23
Show member pathways
 12.67 MAP2K4 MAP3K3 NGF NTRK1 NTRK3 RAP1A
20
TRAF Pathway 65
Show member pathways
 12.63 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NGF
21
MAPK signaling pathway 1 38
12.59 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NGF
22
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 12.54 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2
23
Development Endothelin-1/EDNRA signaling 23
Show member pathways
 12.45 MAP2K3 MAP2K4 MAP2K6 MAP3K3 NGF NTRK1
24
Development FGFR signaling pathway 23
Show member pathways
 12.44 MAP2K3 MAP2K4 MAP2K6 MAP3K3
25
RANK Signaling in Osteoclasts 65
Show member pathways
 12.44 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RAP1A
26
VEGF Pathway (Qiagen) 65
Show member pathways
 12.43 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RHOA
27
B Cell Receptor Signaling Pathway (sino) 68
Show member pathways
 12.33 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RAP1A
28
IL-1 signaling pathway 1
Show member pathways
 12.32 MAP2K3 MAP2K4 MAP2K6 MAP3K3
29
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.27 MAP2K3 MAP2K4 MAP2K6 NGF NTRK1 NTRK3
30
G-protein signaling Ras family GTPases in kinase cascades (scheme) 23
Show member pathways
 12.26 MAP2K3 MAP2K4 MAP2K6 MAP3K3 RAP1A
31
VEGF Signaling Pathway 68 62
Show member pathways
 12.25 MAP2K3 MAP2K4 MAP2K6 SMURF1
32
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 23
Show member pathways
 12.23 MAP2K3 MAP2K4 MAP2K6 RAP1A RHOA
33
GDNF-Family Ligands and Receptor Interactions 65
Show member pathways
 12.21 MAP2K3 MAP2K4 MAP2K6 MAP3K3
34
MicroRNAs in cardiomyocyte hypertrophy 1
Show member pathways
 12.19 MAP2K3 MAP2K4 MAP2K6 RHOA
35
Immune response Function of MEF2 in T lymphocytes 23
Show member pathways
 12.15 MAP2K4 MAP2K6 MAP3K3 MAP4K2
36
Brain-Derived Neurotrophic Factor (BDNF) signaling pathway 1
12.13 NGF NTRK1 NTRK3 RAP1A
37
Immune response IFN gamma signaling pathway 23
Show member pathways
 12.09 MAP2K3 MAP2K4 MAP2K6 NGF RAP1A RHOA
38
TGF-beta Signaling Pathway (WikiPathways) 1
12.07 MAP2K3 MAP2K4 MAP2K6 RHOA SMURF1
39
NGF Pathway 65
Show member pathways
 12.06 MAP2K4 MAP3K3 NGF NTRK1 RAP1A RHOA
40
G12-G13 in Cellular Signaling 65
12.05 MAP2K3 MAP2K4 MAP2K6 RHOA
41
Guidance Cues and Growth Cone Motility 65
12.02 NGF NTRK1 NTRK3 RHOA
42
Development A2B receptor- action via G-protein alpha s 23
Show member pathways
 12.01 MAP2K3 MAP2K6 RAP1A
43
Ceramide Pathway 65
Show member pathways
 12.01 MAP2K3 MAP2K4 MAP2K6
44
Glioblastoma Multiforme 65
11.99 MAP2K3 MAP2K4 MAP2K6 RHOA
45
MAP Kinase Signaling 4
11.98 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2
46
IL12-mediated signaling events 1
Show member pathways
 11.96 MAP2K3 MAP2K4 MAP2K6
47
TNF signaling pathway 38
11.95 MAP2K3 MAP2K4 MAP2K6
48
Jak-Stat Signaling Pathway (sino) 68
11.87 MAP2K3 MAP2K4 MAP2K6
49
TGF-beta Signaling Pathways 66
11.86 MAP2K3 MAP2K4 MAP2K6 RHOA SMURF1
50
Uptake and actions of bacterial toxins 67
Show member pathways
 11.8 MAP2K3 MAP2K4 MAP2K6
Sources

GO Terms for Cerebral Cavernous Malformations 2

About this section

Cellular components related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.53 CCM2 KRIT1 MAP2K3 MAP2K4 MAP2K6 MAP3K3
2 axon GO:0030424 9.43 MAP2K4 NGF NTRK1 NTRK3 RHOA SMURF1

Biological processes related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.97 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
2 positive regulation of apoptotic process GO:0043065 9.96 MAP2K4 MAP2K6 NGF NTRK3
3 MAPK cascade GO:0000165 9.91 MAP2K6 MAP3K3 MAP4K2 STK24
4 protein phosphorylation GO:0006468 9.91 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
5 positive regulation of protein phosphorylation GO:0001934 9.88 MAP2K4 MAP2K6 NTRK1 NTRK3
6 protein autophosphorylation GO:0046777 9.88 MAP3K3 NTRK1 STK24 STK25
7 positive regulation of neuron projection development GO:0010976 9.82 NTRK1 NTRK3 RAP1A
8 small GTPase mediated signal transduction GO:0007264 9.82 KRIT1 RAP1A RHOA
9 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.8 NGF NTRK1 NTRK3
10 peptidyl-tyrosine phosphorylation GO:0018108 9.8 MAP2K3 MAP2K4 MAP2K6 NTRK1 NTRK3
11 ephrin receptor signaling pathway GO:0048013 9.79 NTRK1 NTRK3 RHOA
12 neuron projection morphogenesis GO:0048812 9.78 NGF RHOA STK24
13 response to hydrogen peroxide GO:0042542 9.77 PDCD10 STK24 STK25
14 activation of MAPK activity GO:0000187 9.76 MAP2K3 MAP2K4 MAP2K6 NTRK3
15 activation of MAPKK activity GO:0000186 9.73 MAP3K3 NGF NTRK1
16 phosphatidylinositol-mediated signaling GO:0048015 9.72 NGF NTRK1 RHOA
17 cellular response to nerve growth factor stimulus GO:1990090 9.7 NTRK1 NTRK3 RAP1A
18 activation of protein kinase activity GO:0032147 9.7 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 STK24
19 positive regulation of axonogenesis GO:0050772 9.69 NGF RHOA STK25
20 neurotrophin TRK receptor signaling pathway GO:0048011 9.66 NGF NTRK1
21 positive regulation of Ras protein signal transduction GO:0046579 9.65 NGF NTRK1
22 positive regulation of stress-activated MAPK cascade GO:0032874 9.65 PDCD10 STK25
23 stress fiber assembly GO:0043149 9.64 PDCD10 RHOA
24 wound healing, spreading of cells GO:0044319 9.63 PDCD10 RHOA
25 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.62 MAP2K4 MAP2K6
26 establishment of Golgi localization GO:0051683 9.6 PDCD10 STK25
27 mechanoreceptor differentiation GO:0042490 9.57 NTRK1 NTRK3
28 Golgi reassembly GO:0090168 9.54 PDCD10 STK25
29 nerve growth factor signaling pathway GO:0038180 9.54 NGF NTRK1 RAP1A
30 signal transduction by protein phosphorylation GO:0023014 9.5 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 STK24
31 cellular response to sorbitol GO:0072709 9.49 MAP2K4 MAP2K6
32 neurotrophin signaling pathway GO:0038179 9.48 NTRK1 NTRK3
33 intrinsic apoptotic signaling pathway in response to hydrogen peroxide GO:0036481 9.43 PDCD10 STK25
34 stress-activated protein kinase signaling cascade GO:0031098 9.23 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 RHOA

Molecular functions related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 9.8 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 STK24
2 protein tyrosine kinase activity GO:0004713 9.72 MAP2K3 MAP2K4 MAP2K6 NTRK1 NTRK3
3 nucleotide binding GO:0000166 9.7 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 STK24
4 kinase activity GO:0016301 9.61 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
5 MAP kinase kinase activity GO:0004708 9.58 MAP2K3 MAP2K4 MAP2K6
6 mitogen-activated protein kinase kinase kinase binding GO:0031435 9.52 MAP2K4 MAP4K2
7 GPI-linked ephrin receptor activity GO:0005004 9.51 NTRK1 NTRK3
8 neurotrophin binding GO:0043121 9.49 NTRK1 NTRK3
9 neurotrophin receptor activity GO:0005030 9.46 NTRK1 NTRK3
10 protein kinase activity GO:0004672 9.28 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
11 protein binding GO:0005515 10.41 CCM2 KRIT1 MAP2K3 MAP2K4 MAP2K6 MAP3K3
12 ATP binding GO:0005524 10.09 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
13 transferase activity GO:0016740 10.07 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
Sources

Sources for Cerebral Cavernous Malformations 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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