CCM
MCID: CRB126
MIFTS: 51

Cerebral Cavernous Malformation (CCM) malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases categories
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Summaries for Cerebral Cavernous Malformation

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NIH Rare Diseases:42 Cerebral cavernous malformations (ccms) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure which lead to altered blood flow. cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the central nervous system (the brain and spinal cord). cavernous malformations in the brain and/or spinal cord are called cerebral cavernous malformations.  approximately 25 percent of individuals with cerebral cavernous malformations never experience any related medical problems. other people with cerebral cavernous malformations may experience serious symptoms such as headaches, seizures, paralysis, hearing or vision deficiencies, and bleeding in the brain (cerebral hemorrhage). these malformations can change in size and number over time, but they do not become cancerous.  this condition can be sporadic or it can be inherited in an autosomal dominant pattern. mutations in the krit1(ccm1), ccm2, and pdcd10 (ccm3) genes cause cerebral cavernous malformation. last updated: 6/10/2011

MalaCards based summary: Cerebral Cavernous Malformation, also known as familial cerebral cavernous malformation, is related to cerebral cavernous malformations-1 and cerebral cavernous malformation, familial. An important gene associated with Cerebral Cavernous Malformation is CCM2 (cerebral cavernous malformation 2). The compound calyculin a have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and smooth muscle, and related mouse phenotypes are craniofacial and normal.

Genetics Home Reference:21 Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).

NINDS:43 A cerebral cavernous malformation (CCM) is a collection of small blood vessels (capillaries) in the central nervous system (CNS) that is enlarged and irregular in structure.

Wikipedia:65 Cavernous hemangioma, also called cavernous angioma, or cavernoma (often when referring to presence in... more...

Aliases & Classifications for Cerebral Cavernous Malformation

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Cerebral Cavernous Malformation, Aliases & Descriptions:

Name: Cerebral Cavernous Malformation 42 22 21 43
Familial Cerebral Cavernous Malformation 21 62
Familial Cerebral Cavernous Angioma 21 62
Cerebral Cavernous Malformations 44 62
Familial Cavernous Hemangioma 21 62
Cerebral Cavernous Hemangioma 42 21
Cavernous Angioma 42 43
 
Cavernoma 42 62
Ccm 42 21
Central Nervous System Cavernous Hemangioma 21
Intracerebral Cavernous Hemangioma 21
Cerebro-Costo-Mandibular Syndrome 62
Familial Cavernous Malformation 21
Angioma, Cavernous 62


Classifications:



Related Diseases for Cerebral Cavernous Malformation

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Diseases in the Cerebral Cavernous Malformations-1 family:

Cerebral Cavernous Malformation, Familial cerebral cavernous malformation
Familial Cerebral Cavernous Malformation 1 Familial Cerebral Cavernous Malformation 2
Familial Cerebral Cavernous Malformation 3 Familial Cerebral Cavernous Malformation 4
Cerebral Cavernous Malformations 3 Cerebral Cavernous Malformations-2

Diseases related to Cerebral Cavernous Malformation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformations-131.1KRIT1
2cerebral cavernous malformation, familial30.8CCM2, PDCD10, KRIT1
3vascular disease30.1CCM2, PDCD10, KRIT1
4cavernous malformation11.3
5cerebritis11.2
6cerebral cavernous malformations 310.7
7endotheliitis10.6
8hemangioma10.4
9cavernous hemangioma10.4
10cerebro-costo-mandibular syndrome10.3
11familial cerebral cavernous malformation 110.3
12familial cerebral cavernous malformation 210.3
13familial cerebral cavernous malformation 310.3
14familial cerebral cavernous malformation 410.3
15factor vii deficiency10.3
16cavernous hemangioma of orbit10.3
17siderosis10.3
18dermal unilateral segmental cavernous angioma10.3
19focal dystonia10.3
20superficial siderosis10.3
21stevens-johnson syndrome10.3
22meningioma10.2
23stroke, ischemic10.2CCM2, KRIT1
24brain edema10.1
25multiple cutaneous and mucosal venous malformations10.1
26neuronitis10.1
27arteriovenous malformation10.1
28angiokeratoma10.1
29astrocytoma10.1
30oligodendroglioma10.1
31retinitis10.1
32anaplastic oligodendroglioma10.1
33angiomatosis10.1
34chorea10.1
35congenital vascular cavernous malformations10.1
36familial hemangioma10.1
37nevus cavernosus10.1
38vascular erectile tumor10.1
39cerebral cavernous malformations-210.1
40retinal cavernous hemangioma10.1
41hydrocephalus10.1
42temporal lobe epilepsy10.1
43liver angiosarcoma10.1
44chiasmal syndrome10.1
45segmental dystonia10.1
46roberts syndrome10.1
47nodular malignant melanoma10.1
48trigeminal neuralgia10.1
49olfactory groove meningioma10.1
50angiosarcoma10.1

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



Diseases related to cerebral cavernous malformation

Symptoms for Cerebral Cavernous Malformation

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Drugs & Therapeutics for Cerebral Cavernous Malformation

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Drug clinical trials:

Search ClinicalTrials for Cerebral Cavernous Malformation

Search NIH Clinical Center for Cerebral Cavernous Malformation

Genetic Tests for Cerebral Cavernous Malformation

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Genetic tests related to Cerebral Cavernous Malformation:

id Genetic test Affiliating Genes
1 Cerebral Cavernous Malformation22

Anatomical Context for Cerebral Cavernous Malformation

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MalaCards organs/tissues related to Cerebral Cavernous Malformation:

32
Brain, Spinal cord, Smooth muscle, Endothelial, Testes, Heart, Caudate nucleus

Animal Models for Cerebral Cavernous Malformation or affiliated genes

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MGI Mouse Phenotypes related to Cerebral Cavernous Malformation:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8ITGB1BP1, CCM2, PDCD10, KRIT1
2MP:00028738.7PDCD10, ITGB1BP1, CCM2L, CCM2
3MP:00053918.6KRIT1, CCM2, ITGB1BP1, PDCD10

Publications for Cerebral Cavernous Malformation

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Articles related to Cerebral Cavernous Malformation:

(show top 50)    (show all 161)
idTitleAuthorsYear
1
A call for rigorous study of statins in resolution of cerebral cavernous malformation pathology. (24803598)
2014
2
Systems biology and proteomic analysis of cerebral cavernous malformation. (24684205)
2014
3
Pitfalls of conservative treatments of multiple probable cerebral cavernous malformations (CCMs): clinicopathological features of CCMs coexisting with vasculogenic mimicry in an anaplastic oligodendroglioma. (24337536)
2013
4
Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation. (24034083)
2013
5
Concepts and hypothesis: integrin cytoplasmic domain-associated protein-1 (ICAP-1) as a potential player in cerebral cavernous malformation. (22711159)
2013
6
Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus. (23266514)
2013
7
Structural basis for the unique heterodimeric assembly between cerebral cavernous malformation 3 and germinal center kinase III. (23665169)
2013
8
Focal defects in single-celled tubes mutant for Cerebral cavernous malformation 3, GCKIII, or NSF2. (23763949)
2013
9
Is cerebral cavernous malformation a pre-glioma lesion? (23253728)
2012
10
Familial cerebral cavernous malformation. (22773461)
2012
11
Treatment of pediatric patients with cerebral cavernous malformation. (22209396)
2012
12
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
13
Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth. (22898778)
2012
14
An analysis of flow dynamics in cerebral cavernous malformation and orbital cavernous angioma using indocyanine green videoangiography. (22552434)
2012
15
A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family. (20884211)
2011
16
Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. (21321212)
2011
17
Molecular recognition of leucine-aspartate repeat (LD) motifs by the focal adhesion targeting homology domain of cerebral cavernous malformation 3 (CCM3). (21632544)
2011
18
Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3. (20862502)
2011
19
Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations. (20488708)
2010
20
Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach. (19199464)
2009
21
Phosphatase and tensin homolog in cerebral cavernous malformation: a potential role in pathological angiogenesis. (19061355)
2009
22
A PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) protein. (18782753)
2009
23
Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3. (19246713)
2009
24
Involvement of PTEN promoter methylation in cerebral cavernous malformations. (19118244)
2009
25
Spinal root arteriovenous malformations and same-segment cord cavernous malformation in familial cerebral cavernous malformation. Case report. (18928219)
2008
26
Giant cystic intraventricular cerebral cavernous malformation: MRI with pathologic correlation. A case report. (24256962)
2008
27
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18380023)
2007
28
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383597)
2007
29
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383588)
2007
30
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
31
Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation. (17562932)
2007
32
Deletions in CCM2 are a common cause of cerebral cavernous malformations. (17160895)
2007
33
T2*-weighted MR images of a patient with familial cerebral cavernous malformation. (17443056)
2007
34
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383596)
2007
35
A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations. (16529293)
2006
36
Sorting nexin 17, a non-self-assembling and a PtdIns(3)P high class affinity protein, interacts with the cerebral cavernous malformation related protein KRIT1. (16712798)
2006
37
Cerebral cavernous malformations]. (16100539)
2005
38
Thrombus and encapsulated hematoma in cerebral cavernous malformations. (15759126)
2005
39
A novel gene mutation (1292 deletion) in a Chinese family with cerebral cavernous malformations. (15854263)
2005
40
Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations. (16239636)
2005
41
Mutations within the MGC4607 gene cause cerebral cavernous malformations. (14740320)
2004
42
Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation. (12774951)
2003
43
Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). (12172908)
2002
44
Vertebral hemangiomas associated with familial cerebral cavernous malformation: segmental disease expression. Case report. (12296684)
2002
45
CCM1 gene mutations in families segregating cerebral cavernous malformations. (11222804)
2001
46
Neoplastic growth of cerebral cavernous malformation presenting with impending cerebral herniation: a case report and review of the literature on de novo growth of cavernomas. (11546573)
2001
47
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). (10545614)
1999
48
A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. (8596595)
1996
49
Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. (7604043)
1995
50
Cerebral Cavernous Malformation, Familial (20301470)
1993

Variations for Cerebral Cavernous Malformation

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Expression for genes affiliated with Cerebral Cavernous Malformation

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Expression patterns in normal tissues for genes affiliated with Cerebral Cavernous Malformation

Search GEO for disease gene expression data for Cerebral Cavernous Malformation.

Pathways for genes affiliated with Cerebral Cavernous Malformation

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Compounds for genes affiliated with Cerebral Cavernous Malformation

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Compounds related to Cerebral Cavernous Malformation according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calyculin a44 61 1111.5KRIT1, PPP2R3B

GO Terms for genes affiliated with Cerebral Cavernous Malformation

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Biological processes related to Cerebral Cavernous Malformation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integrin-mediated signaling pathwayGO:0072299.6ITGB1BP1, CCM2
2regulation of catalytic activityGO:0507909.2KRIT1, PPP2R3B

Molecular functions related to Cerebral Cavernous Malformation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein phosphatase type 2A regulator activityGO:0086019.4IGBP1, PPP2R3B
2protein bindingGO:0055156.3KRIT1, PPP2R3B, IGBP1, MOB4, CCM2, ITGB1BP1

Products for genes affiliated with Cerebral Cavernous Malformation

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Sources for Cerebral Cavernous Malformation

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet