Cerebral Cavernous Malformations 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Other congenital malformations of circulatory system

Other malformations of cerebral vessels

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

SNOMED-CT via HPO ⁶⁹ 112641009 128613002 230690007 more

UMLS ⁷¹ C1864041

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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

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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:

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Symptoms & Phenotypes for Cerebral Cavernous Malformations 2

Human phenotypes related to Cerebral Cavernous Malformations 2:

³⁰ (show all 6)

#	Description	HPO 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

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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

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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

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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

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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	Gallione CJ...Marchuk DA	21543988	2011
2	Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. ⁶² ⁵⁷ ⁵	Liquori CL...Gianfrancesco F	18060436	2008
3	Deletions in CCM2 are a common cause of cerebral cavernous malformations. ⁶² ⁵⁷ ⁵	Liquori CL...Marchuk DA	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	Liquori CL...Marchuk DA	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	Nardella G...Fusco C	30161288	2018
6	Review of familial cerebral cavernous malformations and report of seven additional families. ⁶² ⁵	de Vos IJ...van Steensel MA	27792856	2017
7	High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors. ⁶² ⁵	Spiegler S...Felbor U	24689081	2014
8	CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions. ⁶² ⁵	Riant F...Tournier-Lasserve E	23595507	2013
9	A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. ⁶² ⁵⁷	Pagenstecher A...Felbor U	19088124	2009
10	Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. ⁶² ⁵⁷	Akers AL...Marchuk DA	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	Stahl S...Felbor U	18300272	2008
12	Large germline deletions and duplication in isolated cerebral cavernous malformation patients. ⁶² ⁵⁷	Felbor U...Siegel AM	17211633	2007
13	Mutations within the MGC4607 gene cause cerebral cavernous malformations. ⁶² ⁵	Denier C...Societe Francaise de Neurochirurgie	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	Craig HD...Lifton RP	9811928	1998
15	Familial cerebral cavernomatous malformations associated with palmar capillary telangiectasias. ⁵⁷	Ahdab R...Hosseini H	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	Buratti E...Vorechovsky I	17576681	2007
17	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
18	Statistical features of human exons and their flanking regions. ⁵	Zhang MQ	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	Lin HB...Young DB	2468908	1988
20	Role of pericytes in the development of cerebral cavernous malformations. ⁶²	Dai Z...Shi C	36465134	2022
21	Cerebral cavernous malformation development in chronic mouse models driven by dual recombinases induced gene deletion in brain endothelial cells. ⁶²	Yang X...Zheng X	35686705	2022
22	Neuroinflammation Plays a Critical Role in Cerebral Cavernous Malformation Disease. ⁶²	Lai CC...Lopez-Ramirez MA	36285625	2022
23	A Bibliometric Analysis of the Top 100 Most Influential Articles on Cerebral Cavernous Malformations. ⁶²	Fry L...Peterson J	36396057	2022
24	Genetic analysis of a family presenting with coexisting cerebral cavernous malformations and polycystic kidney disease. ⁶²	Hsieh PF...Jeng JS	35370030	2022
25	Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene. ⁶²	Gallione CJ...Marchuk DA	35488064	2022
26	Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs. ⁶²	Scimone C...Sidoti A	36094437	2022
27	Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study. ⁶²	Geraldo AF...Severino M	36198887	2022
28	mPR-Specific Actions Influence Maintenance of the Blood-Brain Barrier (BBB). ⁶²	Abou-Fadel J...Zhang J	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	Ren J...Zeng G	35852613	2022
30	Weighted Single-Step GWAS for Body Mass Index and Scans for Recent Signatures of Selection in Yorkshire Pigs. ⁶²	Vahedi SM...Banabazi MH	35079818	2022
31	Endothelial Cell-Pericyte Interactions in the Pathogenesis of Cerebral Cavernous Malformations (CCMs). ⁶²	Min W...Zhou JH	35667709	2022
32	Contact-dependent signaling triggers tumor-like proliferation of CCM3 knockout endothelial cells in co-culture with wild-type cells. ⁶²	Rath M...Felbor U	35661927	2022
33	Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM). ⁶²	Benedetti V...Retta SF	35883785	2022
34	NOGOB receptor deficiency increases cerebrovascular permeability and hemorrhage via impairing histone acetylation-mediated CCM1/2 expression. ⁶²	Fang Z...Miao QR	35316220	2022
35	Cavernoma-Associated Epilepsy Within the Mesial Temporal Lobe: Surgical Management and Seizure Outcome. ⁶²	He K...Mao Y	35051640	2022
36	Cerebral Cavernous Malformation Pathogenesis: Investigating Lesion Formation and Progression with Animal Models. ⁶²	Phillips CM...Andjelkovic AV	35563390	2022
37	In-silico analysis of nonsynonymous genomic variants within CCM2 gene reaffirm the existence of dual cores within typical PTB domain. ⁶²	Padarti A...Zhang J	35128084	2022
38	GCKIII (Germinal Center Kinase III) Kinases STK24 and STK25 (Serine/Threonine Kinase 24 and 25) Inhibit Cavernoma Development. ⁶²	Sartages M...Zalvide J	35130716	2022
39	Is Location Everything? Regulation of the Endothelial CCM Signaling Complex. ⁶²	Swamy H...Glading AJ	35898265	2022
40	Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion. ⁶²	Pilz RA...Rath M	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	Liu W...Wang X	35444609	2022
42	Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease. ⁶²	Moller-Hansen A...Chin HL	34558799	2022
43	Simplex cerebral cavernous malformations with MAP3K3 mutation have distinct clinical characteristics. ⁶²	Huo R...Cao Y	36090889	2022
44	Pan-Cancer Analysis on the Oncogenic Role of Programmed Cell Death 10. ⁶²	Sun N...Shi L	36276268	2022
45	CmP signaling network unveils novel biomarkers for triple negative breast cancer in African American women. ⁶²	Abou-Fadel J...Zhang J	35431232	2022
46	CCM3 Loss-Induced Lymphatic Defect Is Mediated by the Augmented VEGFR3-ERK1/2 Signaling. ⁶²	Qin L...Zhou JH	34670407	2021
47	Children with cavernous malformations of the central nervous system. ⁶²	Arkar U...Osredkar D	34634677	2021
48	Resurgence of phosphotyrosine binding domains: Structural and functional properties essential for understanding disease pathogenesis. ⁶²	Padarti A...Zhang J	34391832	2021
49	CCM2-deficient endothelial cells undergo a ROCK-dependent reprogramming into senescence-associated secretory phenotype. ⁶²	Vannier DR...Faurobert E	34342749	2021
50	[Cerebral cavernoma]. ⁶²	Kora C...Skiker I	35147318	2021

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Genes for Cerebral Cavernous Malformations 2

Genes related to Cerebral Cavernous Malformations 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CCM2	CCM2 Scaffold Protein	Protein Coding	1369.64	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Proteins (show sections)	2468908 9536098 14624391 (more) 14740320 16199547 17160895 17576681 18060436 18300272 21543988 23595507 24689081 27792856 30161288
2	CCM2L	CCM2 Like Scaffold Protein	Protein Coding	17.61	GeneCards inferred via : Gene name Proteins (show sections)
3	PDCD10	Programmed Cell Death 10	Protein Coding	6.58	DISEASES inferred ¹⁴

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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

Sources

Expression for Cerebral Cavernous Malformations 2

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

Sources

Pathways for Cerebral Cavernous Malformations 2

Sources

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

Sources for Cerebral Cavernous Malformations 2

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CCM2 MCID: CRB191 MIFTS: 42	Cerebral Cavernous Malformations 2 (CCM2) Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Cerebral Cavernous Malformations 2 (CCM2)

Aliases & Classifications for Cerebral Cavernous Malformations 2

MalaCards integrated aliases for Cerebral Cavernous Malformations 2:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Cerebral Cavernous Malformations 2

Related Diseases for Cerebral Cavernous Malformations 2

Diseases in the Cerebral Cavernous Malformations family:

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

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

Symptoms & Phenotypes for Cerebral Cavernous Malformations 2

Human phenotypes related to Cerebral Cavernous Malformations 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Cerebral Cavernous Malformations 2:

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations 2:

Drugs & Therapeutics for Cerebral Cavernous Malformations 2

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Genetic Tests for Cerebral Cavernous Malformations 2

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Genes related to Cerebral Cavernous Malformations 2 (1 elite genes):

Variations for Cerebral Cavernous Malformations 2

ClinVar genetic disease variations for Cerebral Cavernous Malformations 2:

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

Expression 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:

Sources for Cerebral Cavernous Malformations 2