CCM
MCID: CRB126
MIFTS: 50

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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43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Cerebral Cavernous Malformation, also known as familial cerebral cavernous malformation, is related to cerebral cavernous malformation, familial and cerebral cavernous malformations-1. 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.

NINDS:44 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.

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).

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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43NIH Rare Diseases, 21Genetics Home Reference, 62UMLS, 22GTR, 44NINDS, 45Novoseek
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Classifications:



Aliases & Descriptions:

cerebral cavernous malformation 43 22 21 44
familial cerebral cavernous malformation 21 62
cerebral cavernous malformations 45 62
cerebral cavernous hemangioma 43 21
cavernous angioma 43 44
ccm 43 21
central nervous system cavernous hemangioma 21
familial cerebral cavernous angioma 21
intracerebral cavernous hemangioma 21
cerebro-costo-mandibular syndrome 62
familial cavernous malformation 21
familial cavernous hemangioma 21
hemangioma, cavernous 62
angioma, cavernous 62
cavernoma 43


Related Diseases for Cerebral Cavernous Malformation

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17GeneCards, 18GeneDecks
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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 94)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformation, familial30.8CCM2, PDCD10, KRIT1
2cerebral cavernous malformations-130.5KRIT1
3vascular disease30.2CCM2, PDCD10, KRIT1
4cavernous malformation11.2
5cerebritis11.2
6cerebral cavernous malformations 310.7
7endotheliitis10.5
8familial cerebral cavernous malformation 210.4
9familial cerebral cavernous malformation 310.4
10cerebro-costo-mandibular syndrome10.3
11cavernous hemangioma10.3
12hemangioma10.3
13familial cerebral cavernous malformation 110.3
14familial cerebral cavernous malformation 410.3
15factor vii deficiency10.3
16dermal unilateral segmental cavernous angioma10.3
17focal dystonia10.3
18stevens-johnson syndrome10.3
19meningioma10.2
20neuronitis10.1
21arteriovenous malformation10.1
22brain edema10.1
23multiple cutaneous and mucosal venous malformations10.1
24angiokeratoma10.1
25astrocytoma10.1
26oligodendroglioma10.1
27retinitis10.1
28anaplastic oligodendroglioma10.1
29angiomatosis10.1
30chorea10.1
31congenital vascular cavernous malformations10.1
32familial hemangioma10.1
33nevus cavernosus10.1
34vascular erectile tumor10.1
35cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.1
36cerebellar ataxia, deafness, and narcolepsy, autosomal dominant10.1
37retinal cavernous hemangioma10.1
38liver angiosarcoma10.1
39olfactory groove meningioma10.1
40roberts syndrome10.1
41nodular malignant melanoma10.1
42temporal lobe epilepsy10.1
43chiasmal syndrome10.1
44trigeminal neuralgia10.1
45cavernous hemangioma of orbit10.1
46angiosarcoma10.1
47melanoma10.1
48cobb syndrome10.1
49dandy-walker complex10.1
50neurocutaneous melanosis10.1

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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Cerebral Cavernous Malformation:

33
Brain, Spinal cord, Smooth muscle, Endothelial, Testes, Heart, Caudate nucleus

Animal Models for Cerebral Cavernous Malformation or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cerebral Cavernous Malformation:

37
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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52PubMed
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Articles related to Cerebral Cavernous Malformation:

(show top 50)    (show all 149)
idTitleAuthorsYear
1
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
2
Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation. (24034083)
2013
3
Concepts and hypothesis: integrin cytoplasmic domain-associated protein-1 (ICAP-1) as a potential player in cerebral cavernous malformation. (22711159)
2013
4
Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus. (23266514)
2013
5
Structural basis for the unique heterodimeric assembly between cerebral cavernous malformation 3 and germinal center kinase III. (23665169)
2013
6
Focal defects in single-celled tubes mutant for Cerebral cavernous malformation 3, GCKIII, or NSF2. (23763949)
2013
7
Is cerebral cavernous malformation a pre-glioma lesion? (23253728)
2012
8
Familial cerebral cavernous malformation. (22773461)
2012
9
Treatment of pediatric patients with cerebral cavernous malformation. (22209396)
2012
10
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
11
Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth. (22898778)
2012
12
An analysis of flow dynamics in cerebral cavernous malformation and orbital cavernous angioma using indocyanine green videoangiography. (22552434)
2012
13
A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family. (20884211)
2011
14
Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. (21321212)
2011
15
Molecular recognition of leucine-aspartate repeat (LD) motifs by the focal adhesion targeting homology domain of cerebral cavernous malformation 3 (CCM3). (21632544)
2011
16
Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3. (20862502)
2011
17
Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations. (20488708)
2010
18
Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach. (19199464)
2009
19
Phosphatase and tensin homolog in cerebral cavernous malformation: a potential role in pathological angiogenesis. (19061355)
2009
20
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
21
Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3. (19246713)
2009
22
Involvement of PTEN promoter methylation in cerebral cavernous malformations. (19118244)
2009
23
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. (18632209)
2008
24
Spinal root arteriovenous malformations and same-segment cord cavernous malformation in familial cerebral cavernous malformation. Case report. (18928219)
2008
25
Giant cystic intraventricular cerebral cavernous malformation: MRI with pathologic correlation. A case report. (24256962)
2008
26
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18380023)
2007
27
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383597)
2007
28
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383588)
2007
29
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
30
Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation. (17562932)
2007
31
Deletions in CCM2 are a common cause of cerebral cavernous malformations. (17160895)
2007
32
T2*-weighted MR images of a patient with familial cerebral cavernous malformation. (17443056)
2007
33
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383596)
2007
34
A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations. (16529293)
2006
35
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
36
Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development. (16455310)
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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45Novoseek, 61Tocris Bioscience, 11DrugBank
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Compounds related to Cerebral Cavernous Malformation according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calyculin a45 61 1111.5KRIT1, PPP2R3B

GO Terms for genes affiliated with Cerebral Cavernous Malformation

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16Gene Ontology
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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet