CCM
MCID: CRB126
MIFTS: 47

Cerebral Cavernous Malformation (CCM) malady

Neuronal, Genetic categories

Summaries for Cerebral Cavernous Malformation

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 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 3. An important gene associated with Cerebral Cavernous Malformation is CCM2 (cerebral cavernous malformation 2), and among its related pathways are Glycogen breakdown (glycogenolysis) and mRNA surveillance pathway. The compounds fk 506 and calyculin a have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and spinal cord.

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: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.

Wikipedia:64 Cavernous hemangioma is a type of blood vessel malformation (hemangioma) that has relatively large... more...

Aliases & Classifications for Cerebral Cavernous Malformation

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 61UMLS, 22GTR, 44NINDS, 45Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal


Aliases & Descriptions:

cerebral cavernous malformation 43 22 21 44
familial cerebral cavernous malformation 21 61
cerebral cavernous malformations 45 61
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 61
familial cavernous malformation 21
familial cavernous hemangioma 21
hemangioma, cavernous 61
angioma, cavernous 61
cavernoma 43


Related Diseases for Cerebral Cavernous Malformation

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Cerebral Cavernous Malformation family:

cerebral cavernous malformation, familial 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 cerebral cavernous malformations-1

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

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformation, familial31.2KRIT1, PDCD10, CCM2
2cerebral cavernous malformations 330.6PDCD10
3cerebral cavernous malformations-130.6KRIT1
4familial cerebral cavernous malformation 230.5CCM2
5vascular disease30.2KRIT1, PDCD10, CCM2
6klippel-trenaunay syndrome30.1CCM2, PDCD10, KRIT1
7cavernous malformation11.2
8micro syndrome10.6
9pierre robin sequence10.5
10cystic fibrosis10.4
11cleft palate10.4
12cerebral angioma10.4
13familial cerebral cavernous malformation 310.4
14central nervous system hemangioma10.4
15familial cerebral cavernous malformation 110.3
16familial cerebral cavernous malformation 410.3
17familial hemangioma10.3
18dermal unilateral segmental cavernous angioma10.3
19focal dystonia10.3
20stevens-johnson syndrome10.2
21greig cephalopolysyndactyly syndrome10.1
22arteriovenous malformation10.1
23brain edema10.1
24multiple cutaneous and mucosal venous malformations10.1
25angiokeratoma10.1
26astrocytoma10.1
27anaplastic astrocytoma10.1
28anaplastic oligodendroglioma10.1
29cardiovascular disease risk factor10.1
30angiomatosis10.1
31chorea10.1
32congenital vascular cavernous malformations10.1
33nevus cavernosus10.1
34vascular erectile tumor10.1
35cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.1
36cerebroretinal microangiopathy with calcifications and cysts10.1
37retinal cavernous hemangioma10.1
38cerebro-costo-mandibular syndrome10.1
39liver angiosarcoma10.1
40nodular malignant melanoma10.1
41temporal lobe epilepsy10.1
42chiasmal syndrome10.1
43olfactory groove meningioma10.1
44roberts syndrome10.1
45cavernous hemangioma of orbit10.1
46trigeminal neuralgia10.1
47n syndrome10.1
48angiosarcoma10.1
49brain angioma10.1
50brown syndrome10.1

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



Diseases related to cerebral cavernous malformation

Clinical Features for Cerebral Cavernous Malformation

Drugs & Therapeutics for Cerebral Cavernous Malformation

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Cerebral Cavernous Malformation

Drug clinical trials:

Search ClinicalTrials for Cerebral Cavernous Malformation

Search NIH Clinical Center for Cerebral Cavernous Malformation

Search CenterWatch for Cerebral Cavernous Malformation

Genetic Tests for Cerebral Cavernous Malformation

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Cerebral Cavernous Malformation:

33
Brain, Cortex, Spinal cord, Heart, T cells, Endothelial, Caudate nucleus

Animal Models for Cerebral Cavernous Malformation or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Cerebral Cavernous Malformation

Sources:
51PubMed
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Articles related to Cerebral Cavernous Malformation:

(show top 50)    (show all 166)
idTitleAuthorsYear
1
Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus. (23266514)
2013
2
Progressive late-onset of cutaneous angiomatosis as possible sign of cerebral cavernous malformations. (23473272)
2013
3
Discovery of familial cerebral cavernous malformation in a Saudi population. (24265337)
2013
4
Letter to the editor: Multimodal treatment of co-existent callosal cavernous malformation and anterior communicating artery aneurysm associated with an infraoptic anterior cerebral artery. (21556861)
2012
5
CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study. (22378217)
2012
6
The importance of susceptibility-weighted imaging in familial cerebral cavernous malformation. (22825481)
2012
7
Molecular recognition of leucine-aspartate repeat (LD) motifs by the focal adhesion targeting homology domain of cerebral cavernous malformation 3 (CCM3). (21632544)
2011
8
MRI appearance of a cerebral cavernous malformation in the caudate nucleus before and after chorea onset. (21396825)
2011
9
A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. (21543988)
2011
10
Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation. (21029238)
2011
11
Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations. (20488708)
2010
12
Presence of the brain proteins cerebral cavernous malformation-2 and cerebral cavernous malformation-3 in rat testes and their potential role in experimental varicocele. (19647235)
2010
13
Crystal structure of CCM3, a cerebral cavernous malformation protein critical for vascular integrity. (20489202)
2010
14
Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. (20371769)
2010
15
Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling. (20616044)
2010
16
Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation. (20306072)
2010
17
Anaplastic oligo-astrocytoma occurring after resection of a cerebral cavernous malformation; malignant transformation? Case report and review on etiology. (19777285)
2010
18
A novel KRIT1 gene mutation in a patient with cerebral and multiple spinal cavernous malformations. (20689144)
2010
19
CCM3 signaling through sterile 20-like kinases plays an essential role during zebrafish cardiovascular development and cerebral cavernous malformations. (20592472)
2010
20
Involvement of PTEN promoter methylation in cerebral cavernous malformations. (19118244)
2009
21
Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations. (19453802)
2009
22
Intramedullary spinal arteriovenous malformation in a boy of familial cerebral cavernous hemangioma. (18157540)
2008
23
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. (18632209)
2008
24
Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations. (18035376)
2008
25
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383588)
2007
26
T2*-weighted MR images of a patient with familial cerebral cavernous malformation. (17443056)
2007
27
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383593)
2007
28
Interaction between krit1 and malcavernin: implications for the pathogenesis of cerebral cavernous malformations. (17290187)
2007
29
Proteomic identification of the cerebral cavernous malformation signaling complex. (17900104)
2007
30
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383590)
2007
31
Cutaneous angiokeratoma and venous malformations in a Hispanic-American patient with cerebral cavernous malformations. (17578448)
2007
32
CCM1 gene deletion identified by MLPA in cerebral cavernous malformation. (17187287)
2007
33
Large germline deletions and duplication in isolated cerebral cavernous malformation patients. (17211633)
2007
34
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. (15543491)
2005
35
CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. (16037064)
2005
36
Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. (14755725)
2004
37
Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene. (12877753)
2003
38
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. (14624391)
2003
39
Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test. (12810002)
2003
40
Thoracic intra- and extramedullary cavernous hemangioma associated with innumerable cerebral vascular malformations: case report and review of the literature. (12865621)
2003
41
Identification of a novel inheritable CCM1 gene mutation of 671del AT in a Chinese family with cerebral cavernous malformation]. (14642111)
2003
42
Delayed radiation necrosis with extensive brain edema after gamma knife radiosurgery for multiple cerebral cavernous malformations--case report. (12968806)
2003
43
Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). (12172908)
2002
44
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations. (12404106)
2002
45
CCM1 gene mutations in families segregating cerebral cavernous malformations. (11222804)
2001
46
Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations. (11310633)
2001
47
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). (10545614)
1999
48
Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. (7604043)
1995
49
Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. (8750196)
1995
50
Cerebral Cavernous Malformation, Familial (20301470)
1993

Genetic Variations for Cerebral Cavernous Malformation

Expression for genes affiliated with Cerebral Cavernous Malformation

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Cerebral Cavernous Malformation according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4PPP2R3B, PPP2R5B
210.4PPP2R3B, PPP2R2D, PPP2R5B
3
Hide members
10.3FGFR1OP, PPP2R3B, PPP2R2D, PPP2R5B

Compounds for genes affiliated with Cerebral Cavernous Malformation

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank
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Compounds related to Cerebral Cavernous Malformation according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1fk 5066010.4PPP2R3B, PPP2R2D
2calyculin a45 60 1112.3KRIT1, PPP2R3B, PPP2R2D
3salubrinal6010.1PPP2R3B, PPP2R2D

GO Terms for genes affiliated with Cerebral Cavernous Malformation

Sources:
16Gene Ontology
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Cellular components related to Cerebral Cavernous Malformation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573710.1MOB4, PPP2R5B, PPP2R2D, PPFIA3, STRN4, STRIP1
2protein phosphatase type 2A complexGO:00015910.0STRN4, PPP2R3B, PPP2R2D, PPP2R5B

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

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:03240310.4KRIT1, ITGB1BP1, STRN4
2protein phosphatase type 2A regulator activityGO:00860110.2IGBP1, PPP2R3B, PPP2R2D, PPP2R5B
3protein bindingGO:0055159.5STRN4, PPFIA3, PPP2R3B, PPP2R5B, PDCD10, MOB4

Products for genes affiliated with Cerebral Cavernous Malformation

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Sources for Cerebral Cavernous Malformation

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet