CCM2
MCID: CRB191
MIFTS: 42

Cerebral Cavernous Malformations 2 (CCM2)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Cerebral Cavernous Malformations 2

MalaCards integrated aliases for Cerebral Cavernous Malformations 2:

Name: Cerebral Cavernous Malformations 2 57 73 71
Cerebral Cavernous Malformation 2 11 28 5 14
Ccm2 57 73 75
Cerebral Cavernous Malformations-2 57 12
Cerebral Cavernous Malformations, Type 2 38
Cavernous Angiomatous Malformations 73
Cavernous Hemangioma of the Brain 73
Cerebral Capillary Malformations 73
Familial Cavernous Angioma 73
Cerebral Cavernoma 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity (see for summary)
sporadic cases often single lesions versus multiple lesions in familial cases


Classifications:



External Ids:

Disease Ontology 11 DOID:0060670
OMIM® 57 603284
OMIM Phenotypic Series 57 PS116860
MeSH 43 D020786
ICD10 31 Q28.3
MedGen 40 C1864041
UMLS 71 C1864041

Summaries for Cerebral Cavernous Malformations 2

UniProtKB/Swiss-Prot: 73 A form of cerebral cavernous malformations, 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. CCM2 inheritance is autosomal dominant.

MalaCards based summary: Cerebral Cavernous Malformations 2, also known as cerebral cavernous malformation 2, is related to cerebral cavernous malformations 3 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). Affiliated tissues include brain, spinal cord and bone marrow, and related phenotypes are cerebral cavernous malformation and seizure

Disease Ontology: 11 A cerebral cavernous malformation that has material basis in mutation in the CCM2 gene on chromosome 7p13.

Wikipedia: 75 The CCM2 gene contains 10 coding exons and an alternatively spliced exon 1B. This gene is located on... more...

More information from OMIM: 603284 PS116860

Related Diseases for Cerebral Cavernous Malformations 2

Diseases in the Cerebral Cavernous Malformations family:

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

Diseases related to Cerebral Cavernous Malformations 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 3 31.8 PDCD10 CCM2
2 klippel-trenaunay-weber syndrome 31.2 PDCD10 CCM2
3 brain angioma 31.1 PDCD10 CCM2
4 cerebral angioma 31.1 PDCD10 CCM2
5 intracranial structure hemangioma 31.1 PDCD10 CCM2
6 intracranial cavernous angioma 31.1 PDCD10 CCM2
7 venous malformations, multiple cutaneous and mucosal 31.1 PDCD10 CCM2
8 cavernous hemangioma 31.1 PDCD10 CCM2
9 3-methylcrotonyl-coa carboxylase 2 deficiency 31.0 PDCD10 CCM2
10 vascular disease 31.0 PDCD10 CCM2
11 arteriovenous malformation 30.9 PDCD10 CCM2
12 hemorrhagic disease 30.8 PDCD10 CCM2
13 hemangioma of liver 30.5 PDCD10 CCM2L CCM2
14 cerebral cavernous malformation, familial 29.9 PDCD10 CCM2
15 cerebral cavernous malformations 29.7 PDCD10 CCM2L CCM2
16 cerebrocostomandibular syndrome 29.2 PDCD10 CCM2L CCM2
17 hemorrhage, intracerebral 11.0
18 sturge-weber syndrome 10.9
19 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
20 coarctation of aorta 10.1
21 noonan syndrome 1 10.1
22 medulloblastoma 10.0
23 myasthenic syndrome, congenital, 1b, fast-channel 10.0
24 epilepsy 10.0
25 hemangioma 10.0
26 cerebrovascular disease 10.0
27 neuroblastoma 10.0
28 abducens palsy 10.0
29 papillon-lefevre syndrome 10.0
30 helix syndrome 10.0
31 cranial nerve palsy 10.0
32 glial tumor 10.0
33 maturity-onset diabetes of the young, type 2 9.9
34 oxoglutarate dehydrogenase deficiency 9.9
35 type 1 diabetes mellitus 9.9
36 mismatch repair cancer syndrome 1 9.9
37 maturity-onset diabetes of the young 9.9
38 parkinsonism 9.9
39 hemiplegia 9.9
40 visual epilepsy 9.9
41 bell's palsy 9.9
42 von willebrand's disease 9.9
43 hyperglycemia 9.9
44 hypopituitarism 9.9
45 adult syndrome 9.9
46 varicocele 9.9
47 gastric antral vascular ectasia 9.9
48 headache 9.9
49 twin-reversed arterial perfusion sequence 9.9
50 hepatosplenic t-cell lymphoma 9.7

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



Diseases related to Cerebral Cavernous Malformations 2

Symptoms & Phenotypes for Cerebral Cavernous Malformations 2

Human phenotypes related to Cerebral Cavernous Malformations 2:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral cavernous malformation 30 Very rare (1%) HP:0033522
2 seizure 30 HP:0001250
3 stroke 30 HP:0001297
4 headache 30 HP:0002315
5 cerebral hemorrhage 30 HP:0001342
6 telangiectasia 30 HP:0001009

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

UMLS symptoms related to Cerebral Cavernous Malformations 2:


seizures; headache recurrent

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.13 CCM2 CCM2L PDCD10
2 muscle MP:0005369 8.8 CCM2 CCM2L PDCD10

Drugs & Therapeutics for Cerebral Cavernous Malformations 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness Active, not recruiting NCT03652181

Search NIH Clinical Center for Cerebral Cavernous Malformations 2

Genetic Tests for Cerebral Cavernous Malformations 2

Genetic tests related to Cerebral Cavernous Malformations 2:

# Genetic test Affiliating Genes
1 Cerebral Cavernous Malformation 2 28 CCM2

Anatomical Context for Cerebral Cavernous Malformations 2

Organs/tissues related to Cerebral Cavernous Malformations 2:

MalaCards : Brain, Spinal Cord, Bone Marrow, Endothelial, Bone, Temporal Lobe, Testes
ODiseA: Blood And Bone Marrow

Publications for Cerebral Cavernous Malformations 2

Articles related to Cerebral Cavernous Malformations 2:

(show top 50) (show all 388)
# Title Authors PMID Year
1
A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. 62 57 5
21543988 2011
2
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. 62 57 5
18060436 2008
3
Deletions in CCM2 are a common cause of cerebral cavernous malformations. 62 57 5
17160895 2007
4
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. 62 57 5
14624391 2003
5
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. 62 5
30161288 2018
6
Review of familial cerebral cavernous malformations and report of seven additional families. 62 5
27792856 2017
7
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors. 62 5
24689081 2014
8
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions. 62 5
23595507 2013
9
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. 62 57
19088124 2009
10
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. 62 57
19088123 2009
11
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. 62 5
18300272 2008
12
Large germline deletions and duplication in isolated cerebral cavernous malformation patients. 62 57
17211633 2007
13
Mutations within the MGC4607 gene cause cerebral cavernous malformations. 62 5
14740320 2004
14
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. 62 57
9811928 1998
15
Familial cerebral cavernomatous malformations associated with palmar capillary telangiectasias. 57
18779516 2008
16
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 5
17576681 2007
17
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
18
Statistical features of human exons and their flanking regions. 5
9536098 1998
19
Verapamil alters the relationship between renal perfusion pressure and glomerular filtration rate and renin release: the mechanism of the antihypertensive effect. 5
2468908 1988
20
Role of pericytes in the development of cerebral cavernous malformations. 62
36465134 2022
21
Cerebral cavernous malformation development in chronic mouse models driven by dual recombinases induced gene deletion in brain endothelial cells. 62
35686705 2022
22
Neuroinflammation Plays a Critical Role in Cerebral Cavernous Malformation Disease. 62
36285625 2022
23
A Bibliometric Analysis of the Top 100 Most Influential Articles on Cerebral Cavernous Malformations. 62
36396057 2022
24
Genetic analysis of a family presenting with coexisting cerebral cavernous malformations and polycystic kidney disease. 62
35370030 2022
25
Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene. 62
35488064 2022
26
Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs. 62
36094437 2022
27
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study. 62
36198887 2022
28
mPR-Specific Actions Influence Maintenance of the Blood-Brain Barrier (BBB). 62
36077089 2022
29
De novo cerebral cavernous malformations with PIK3CA somatic mutation and EPHB4 germline mutation in a child with multiple developmental venous anomalies and cutaneous vascular malformations. 62
35852613 2022
30
Weighted Single-Step GWAS for Body Mass Index and Scans for Recent Signatures of Selection in Yorkshire Pigs. 62
35079818 2022
31
Endothelial Cell-Pericyte Interactions in the Pathogenesis of Cerebral Cavernous Malformations (CCMs). 62
35667709 2022
32
Contact-dependent signaling triggers tumor-like proliferation of CCM3 knockout endothelial cells in co-culture with wild-type cells. 62
35661927 2022
33
Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM). 62
35883785 2022
34
NOGOB receptor deficiency increases cerebrovascular permeability and hemorrhage via impairing histone acetylation-mediated CCM1/2 expression. 62
35316220 2022
35
Cavernoma-Associated Epilepsy Within the Mesial Temporal Lobe: Surgical Management and Seizure Outcome. 62
35051640 2022
36
Cerebral Cavernous Malformation Pathogenesis: Investigating Lesion Formation and Progression with Animal Models. 62
35563390 2022
37
In-silico analysis of nonsynonymous genomic variants within CCM2 gene reaffirm the existence of dual cores within typical PTB domain. 62
35128084 2022
38
GCKIII (Germinal Center Kinase III) Kinases STK24 and STK25 (Serine/Threonine Kinase 24 and 25) Inhibit Cavernoma Development. 62
35130716 2022
39
Is Location Everything? Regulation of the Endothelial CCM Signaling Complex. 62
35898265 2022
40
Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion. 62
36090026 2022
41
A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature. 62
35444609 2022
42
Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease. 62
34558799 2022
43
Simplex cerebral cavernous malformations with MAP3K3 mutation have distinct clinical characteristics. 62
36090889 2022
44
Pan-Cancer Analysis on the Oncogenic Role of Programmed Cell Death 10. 62
36276268 2022
45
CmP signaling network unveils novel biomarkers for triple negative breast cancer in African American women. 62
35431232 2022
46
CCM3 Loss-Induced Lymphatic Defect Is Mediated by the Augmented VEGFR3-ERK1/2 Signaling. 62
34670407 2021
47
Children with cavernous malformations of the central nervous system. 62
34634677 2021
48
Resurgence of phosphotyrosine binding domains: Structural and functional properties essential for understanding disease pathogenesis. 62
34391832 2021
49
CCM2-deficient endothelial cells undergo a ROCK-dependent reprogramming into senescence-associated secretory phenotype. 62
34342749 2021
50
[Cerebral cavernoma]. 62
35147318 2021

Variations for Cerebral Cavernous Malformations 2

ClinVar genetic disease variations for Cerebral Cavernous Malformations 2:

5 (show top 50) (show all 121)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCM2 NM_031443.4(CCM2):c.610-1G>A SNV Pathogenic
590663 rs1562913873 GRCh37: 7:45109424-45109424
GRCh38: 7:45069825-45069825
2 CCM2 NM_031443.4(CCM2):c.1A>G (p.Met1Val) SNV Pathogenic
2684 rs137852842 GRCh37: 7:45039933-45039933
GRCh38: 7:45000334-45000334
3 CCM2 NM_031443.4(CCM2):c.288+1G>A SNV Pathogenic
2685 rs1562906981 GRCh37: 7:45103601-45103601
GRCh38: 7:45064002-45064002
4 CCM2 NM_031443.4(CCM2):c.593T>G (p.Leu198Arg) SNV Pathogenic
2686 rs137852843 GRCh37: 7:45108162-45108162
GRCh38: 7:45068563-45068563
5 CCM2 NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) MICROSAT Pathogenic
585627 rs1562921605 GRCh37: 7:45115569-45115570
GRCh38: 7:45075970-45075971
6 CCM2 nsv513784 DEL Pathogenic
2688 GRCh37:
GRCh38:
7 CCM2 7p13 deletion (77.6 kb) DEL Pathogenic
253004 GRCh37:
GRCh38:
8 CCM2 NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer) INSERT Pathogenic
468336 rs1554365511 GRCh37: 7:45077863-45077864
GRCh38: 7:45038264-45038265
9 CCM2 NC_000007.14:g.(?_45038253)_(45076470_?)del DEL Pathogenic
468334 GRCh37: 7:45077852-45116069
GRCh38: 7:45038253-45076470
10 overlap with 3 genes NC_000007.14:g.(?_45027705)_(45086112_?)del DEL Pathogenic
584080 GRCh37: 7:45067304-45125711
GRCh38: 7:45027705-45086112
11 CCM2 NM_031443.4(CCM2):c.970G>T (p.Glu324Ter) SNV Pathogenic
862971 rs756276859 GRCh37: 7:45113923-45113923
GRCh38: 7:45074324-45074324
12 CCM2 NM_031443.4(CCM2):c.130_131del (p.Thr44fs) MICROSAT Pathogenic
952312 rs1797324598 GRCh37: 7:45077948-45077949
GRCh38: 7:45038349-45038350
13 CCM2 NM_031443.4(CCM2):c.643C>T (p.Gln215Ter) SNV Pathogenic
1030944 rs1798970889 GRCh37: 7:45109458-45109458
GRCh38: 7:45069859-45069859
14 CCM2 NC_000007.13:g.(?_45067284)_(45115676_?)del DEL Pathogenic
1076241 GRCh37: 7:45067284-45115676
GRCh38:
15 CCM2 NM_031443.4(CCM2):c.214C>T (p.Gln72Ter) SNV Pathogenic
279739 rs886041157 GRCh37: 7:45103526-45103526
GRCh38: 7:45063927-45063927
16 CCM2 NM_031443.4(CCM2):c.93del (p.Ala32fs) DEL Pathogenic
1383573 GRCh37: 7:45077912-45077912
GRCh38: 7:45038313-45038313
17 CCM2 NM_031443.4(CCM2):c.528_532del (p.Leu177fs) DEL Pathogenic
1415667 GRCh37: 7:45108097-45108101
GRCh38: 7:45068498-45068502
18 CCM2 NM_031443.4(CCM2):c.473-2A>G SNV Pathogenic
1400162 GRCh37: 7:45108040-45108040
GRCh38: 7:45068441-45068441
19 CCM2 NC_000007.13:g.(?_45039933)_(45039982_?)del DEL Pathogenic
1427461 GRCh37: 7:45039933-45039982
GRCh38:
20 CCM2 NM_031443.4(CCM2):c.169A>T (p.Arg57Ter) SNV Pathogenic
590650 rs1562882049 GRCh37: 7:45077990-45077990
GRCh38: 7:45038391-45038391
21 CCM2 NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter) SNV Pathogenic
857759 rs765548101 GRCh37: 7:45104127-45104127
GRCh38: 7:45064528-45064528
22 CCM2 NM_031443.4(CCM2):c.151G>T (p.Glu51Ter) SNV Pathogenic
1076028 GRCh37: 7:45077972-45077972
GRCh38: 7:45038373-45038373
23 CCM2 NM_031443.4(CCM2):c.402_405dup (p.Ile136fs) DUP Pathogenic
661878 rs1583970495 GRCh37: 7:45104174-45104175
GRCh38: 7:45064575-45064576
24 CCM2 NM_031443.4(CCM2):c.1234dup (p.Arg412fs) DUP Pathogenic
590645 rs1331484727 GRCh37: 7:45115553-45115554
GRCh38: 7:45075954-45075955
25 CCM2 NM_031443.4(CCM2):c.30G>A (p.Lys10=) SNV Pathogenic
662968 rs1583819255 GRCh37: 7:45039962-45039962
GRCh38: 7:45000363-45000363
26 CCM2 NM_031443.4(CCM2):c.228dup (p.Pro77fs) DUP Pathogenic
1070815 GRCh37: 7:45103539-45103540
GRCh38: 7:45063940-45063941
27 CCM2 NM_031443.4(CCM2):c.83_87del (p.Arg28fs) DEL Pathogenic
1458144 GRCh37: 7:45077904-45077908
GRCh38: 7:45038305-45038309
28 CCM2 NM_031443.4(CCM2):c.298C>T (p.Gln100Ter) SNV Pathogenic
1366649 GRCh37: 7:45104071-45104071
GRCh38: 7:45064472-45064472
29 CCM2 NM_031443.4(CCM2):c.1071_1074dup (p.Glu359delinsProTer) DUP Pathogenic
1456955 GRCh37: 7:45115390-45115391
GRCh38: 7:45075791-45075792
30 CCM2 NM_031443.4(CCM2):c.23del (p.Gly8fs) DEL Pathogenic
2680 rs1562848466 GRCh37: 7:45039953-45039953
GRCh38: 7:45000354-45000354
31 CCM2 NM_031443.4(CCM2):c.319C>T (p.Gln107Ter) SNV Pathogenic
2681 rs137852841 GRCh37: 7:45104092-45104092
GRCh38: 7:45064493-45064493
32 CCM2 NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) SNV Pathogenic
447028 rs755800734 GRCh37: 7:45077876-45077876
GRCh38: 7:45038277-45038277
33 CCM2 NM_031443.4(CCM2):c.30+1G>A SNV Pathogenic
590655 rs1562848479 GRCh37: 7:45039963-45039963
GRCh38: 7:45000364-45000364
34 CCM2 NM_031443.4(CCM2):c.745+1G>C SNV Pathogenic
650894 rs1583984070 GRCh37: 7:45109561-45109561
GRCh38: 7:45069962-45069962
35 CCM2 NM_031443.4(CCM2):c.219_220del (p.Leu73fs) DEL Pathogenic
570247 rs1562906798 GRCh37: 7:45103531-45103532
GRCh38: 7:45063932-45063933
36 CCM2 NC_000007.14:g.(?_45038233)_(45038446_?)del DEL Pathogenic
832896 GRCh37: 7:45077832-45078045
GRCh38:
37 CCM2 NM_031443.4(CCM2):c.839C>G (p.Ser280Ter) SNV Pathogenic
838138 rs1437280900 GRCh37: 7:45113094-45113094
GRCh38: 7:45073495-45073495
38 CCM2 NM_031443.4(CCM2):c.745+2T>C SNV Pathogenic
963406 rs1798979994 GRCh37: 7:45109562-45109562
GRCh38: 7:45069963-45069963
39 CCM2 NM_031443.4(CCM2):c.289-1G>A SNV Pathogenic
590652 rs1562907365 GRCh37: 7:45104061-45104061
GRCh38: 7:45064462-45064462
40 CCM2 NC_000007.13:g.(?_45109405)_(45109580_?)del DEL Pathogenic
1355285 GRCh37: 7:45109405-45109580
GRCh38:
41 CCM2 NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter) SNV Pathogenic
849329 rs767248510 GRCh37: 7:45115399-45115399
GRCh38: 7:45075800-45075800
42 CCM2 NM_031443.4(CCM2):c.30+5_30+6delinsTT INDEL Pathogenic
193463 rs797044623 GRCh37: 7:45039967-45039968
GRCh38: 7:45000368-45000369
43 CCM2 NM_031443.4(CCM2):c.169_172del (p.Arg57fs) MICROSAT Pathogenic
590649 rs1562882045 GRCh37: 7:45077985-45077988
GRCh38: 7:45038386-45038389
44 CCM2 NM_031443.4(CCM2):c.305dup (p.His104fs) DUP Pathogenic
1330532 GRCh37: 7:45104076-45104077
GRCh38: 7:45064477-45064478
45 CCM2 NM_031443.4(CCM2):c.71del (p.Gly24fs) DEL Pathogenic
618554 rs1562881854 GRCh37: 7:45077891-45077891
GRCh38: 7:45038292-45038292
46 CCM2 NM_031443.4(CCM2):c.472+1G>C SNV Pathogenic/Likely Pathogenic
974868 rs745710633 GRCh37: 7:45104246-45104246
GRCh38: 7:45064647-45064647
47 CCM2 NM_031443.4(CCM2):c.7G>T (p.Glu3Ter) SNV Likely Pathogenic
873433 rs1795541254 GRCh37: 7:45039939-45039939
GRCh38: 7:45000340-45000340
48 CCM2 NM_031443.4(CCM2):c.584T>G (p.Leu195Arg) SNV Likely Pathogenic
562020 rs1562912426 GRCh37: 7:45108153-45108153
GRCh38: 7:45068554-45068554
49 CCM2 NM_031443.4(CCM2):c.31-2A>G SNV Likely Pathogenic
468335 rs1554365507 GRCh37: 7:45077850-45077850
GRCh38: 7:45038251-45038251
50 CCM2 NM_031443.4(CCM2):c.635T>C (p.Leu212Pro) SNV Likely Pathogenic
468338 rs1554377652 GRCh37: 7:45109450-45109450
GRCh38: 7:45069851-45069851

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

73
# 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

Expression for Cerebral Cavernous Malformations 2

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

Pathways for Cerebral Cavernous Malformations 2

GO Terms for Cerebral Cavernous Malformations 2

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

# Name GO ID Score Top Affiliating Genes
1 regulation of angiogenesis GO:0045765 9.26 PDCD10 CCM2
2 endothelium development GO:0003158 8.92 PDCD10 CCM2

Sources for Cerebral Cavernous Malformations 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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