CCM
MCID: CRB126
MIFTS: 39

Cerebral Cavernous Malformation (CCM) malady

Neuronal diseases, Genetic diseases categories

Summaries for Cerebral Cavernous Malformation

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42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 32MalaCards
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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: 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 spinal cord and brain.

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.

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

Aliases & Classifications for Cerebral Cavernous Malformation

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42NIH Rare Diseases, 21Genetics Home Reference, 60UMLS, 22GTR, 43NINDS, 44Novoseek
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Classifications:

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


Aliases & Descriptions:

cerebral cavernous malformation 42 22 21 43
familial cerebral cavernous malformation 21 60
cerebral cavernous malformations 44 60
cerebral cavernous hemangioma 42 21
cavernous angioma 42 43
ccm 42 21
central nervous system cavernous hemangioma 21
familial cerebral cavernous angioma 21
intracerebral cavernous hemangioma 21
cerebro-costo-mandibular syndrome 60
familial cavernous malformation 21
familial cavernous hemangioma 21
hemangioma, cavernous 60
angioma, cavernous 60
cavernoma 42


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 80)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformation, familial31.3KRIT1, PDCD10, CCM2
2cerebral cavernous malformations 330.5PDCD10
3familial cerebral cavernous malformation 230.5CCM2
4cerebral cavernous malformations-130.3KRIT1
5vascular disease30.1KRIT1, PDCD10, CCM2
6klippel-trenaunay syndrome30.1CCM2, PDCD10, KRIT1
7cerebritis11.2
8cystic fibrosis10.4
9cleft palate10.4
10laryngitis10.4
11image syndrome10.4
12cavernous hemangioma10.3
13familial cerebral cavernous malformation 310.3
14central nervous system hemangioma10.3
15cerebral angioma10.2
16hemangioma10.2
17familial cerebral cavernous malformation 110.2
18familial cerebral cavernous malformation 410.2
19dermal unilateral segmental cavernous angioma10.2
20factor vii deficiency10.2
21stevens-johnson syndrome10.2
22meningioma10.2
23greig cephalopolysyndactyly syndrome10.1
24arteriovenous malformation10.1
25brain edema10.1
26neuronitis10.1
27multiple cutaneous and mucosal venous malformations10.1
28angiokeratoma10.1
29astrocytoma10.1
30cerebral palsy10.1
31oligodendroglioma10.1
32retinitis10.1
33cavernous malformation10.1
34congenital vascular cavernous malformations10.1
35familial hemangioma10.1
36nevus cavernosus10.1
37vascular erectile tumor10.1
38cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.1
39cerebellar ataxia, deafness, and narcolepsy, autosomal dominant10.1
40cerebro-costo-mandibular syndrome10.1
41liver angiosarcoma10.1
42nodular malignant melanoma10.1
43temporal lobe epilepsy10.1
44chiasmal syndrome10.1
45olfactory groove meningioma10.1
46roberts syndrome10.1
47cavernous hemangioma of orbit10.1
48trigeminal neuralgia10.1
49pilocytic astrocytoma of cerebellum10.1
50angiosarcoma10.1

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



Diseases related to cerebral cavernous malformation

Clinical Features for Cerebral Cavernous Malformation

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Drugs & Therapeutics for Cerebral Cavernous Malformation

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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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32MalaCards
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MalaCards organs/tissues related to Cerebral Cavernous Malformation:

32
Spinal cord, Brain

Animal Models for Cerebral Cavernous Malformation or affiliated genes

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Publications for Cerebral Cavernous Malformation

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Genetic Variations for Cerebral Cavernous Malformation

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Expression for genes affiliated with Cerebral Cavernous Malformation

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1BioGPS, 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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53Reactome, 37NCBI BioSystems Database, 29KEGG
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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

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59Tocris Bioscience, 44Novoseek, 11DrugBank
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Compounds related to Cerebral Cavernous Malformation according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1fk 5065910.4PPP2R3B, PPP2R2D
2calyculin a44 59 1112.3KRIT1, PPP2R3B, PPP2R2D
3salubrinal5910.1PPP2R3B, PPP2R2D

GO Terms for genes affiliated with Cerebral Cavernous Malformation

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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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  • Antibodies
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  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet