MCID: CVR010
MIFTS: 36

Cavernous Malformation malady

Summaries for Cavernous Malformation

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Sources:
45NINDS, 66Wikipedia, 34MalaCards
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NINDS:45 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.

MalaCards: Cavernous Malformation is related to cerebral cavernous malformation and cerebral cavernous malformation, familial. An important gene associated with Cavernous Malformation is CCM2 (cerebral cavernous malformation 2), and among its related pathways are mRNA surveillance pathway and IL-6 Signaling Pathway. The compound calyculin a have been mentioned in the context of this disorder. Affiliated tissues include brain, smooth muscle and endothelial, and related mouse phenotypes are vision/eye and craniofacial.

Wikipedia:66 Cavernous hemangioma, also called cavernous angioma, or cavernoma (often when referring to presence in... more...

Aliases & Classifications for Cavernous Malformation

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45NINDS
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Aliases & Descriptions:

cavernous malformation 45


Related Diseases for Cavernous Malformation

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18GeneCards, 19GeneDecks
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Diseases related to Cavernous Malformation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformation31.7CCM2, PDCD10, KRIT1
2cerebral cavernous malformation, familial30.6CCM2, PDCD10, KRIT1
3cerebral cavernous malformations-130.3KRIT1
4vascular disease30.0CCM2, PDCD10, KRIT1
5cerebritis11.1
6cerebral cavernous malformations 310.5
7endotheliitis10.4
8arteriovenous malformation10.3
9cavernous hemangioma10.3
10congenital vascular cavernous malformations10.3
11siderosis10.2
12hemangioma10.2
13familial cerebral cavernous malformation 210.2
14familial cerebral cavernous malformation 310.2
15familial hemangioma10.2
16nevus cavernosus10.2
17vascular erectile tumor10.2
18superficial siderosis10.2
19neuronitis10.1
20trigonitis10.1
21trigeminal neuralgia10.1
22astrocytoma10.1
23cervicitis10.1
24meningioma10.1
25retinitis10.1
26familial cerebral cavernous malformation 110.1
27familial cerebral cavernous malformation 410.1
28aneurysm10.1
29cavernous malformations of cns and retina10.1
30stroke, ischemic10.0CCM2, KRIT1
31human venous malformation10.0CCM2, PDCD10, KRIT1
32arteriovenous fistula10.0
33astroblastoma10.0
34choroid plexus papilloma10.0
35portal hypertension10.0
36poland syndrome10.0
37mutism10.0
38choroiditis10.0
39brain edema10.0
40multiple cutaneous and mucosal venous malformations10.0
41moyamoya disease10.0
42acute lymphocytic leukemia10.0
43angiokeratoma10.0
44glioblastoma multiforme10.0
45hepatitis10.0
46hypertension10.0
47leukemia10.0
48medulloblastoma10.0
49migraine10.0
50neuritis10.0

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



Diseases related to cavernous malformation

Symptoms for Cavernous Malformation

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Drugs & Therapeutics for Cavernous Malformation

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Cavernous Malformation

Drug clinical trials:

Search ClinicalTrials for Cavernous Malformation

Search NIH Clinical Center for Cavernous Malformation

Search CenterWatch for Cavernous Malformation

Genetic Tests for Cavernous Malformation

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Anatomical Context for Cavernous Malformation

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34MalaCards
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MalaCards organs/tissues related to Cavernous Malformation:

34
Brain, Smooth muscle, Endothelial, Spinal cord, Testes, Liver, Heart, Cortex, Occipital lobe, Thalamus, Caudate nucleus, Medulla oblongata, Pineal

Animal Models for Cavernous Malformation or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Cavernous Malformation:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.7KRIT1, PDCD10, ITGB1BP1, CCM2
2MP:00053828.4KRIT1, PDCD10, ITGB1BP1, CCM2

Publications for Cavernous Malformation

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53PubMed
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Articles related to Cavernous Malformation:

(show top 50)    (show all 315)
idTitleAuthorsYear
1
Case Report: Glioblastoma Multiforme Complicating Familial Cavernous Malformations. (23942770)
2013
2
Mapping affected sites of cavernous malformation in the posterior cranial fossa. (23981232)
2013
3
Cavernous malformations of the brain after treatment for acute lymphocytic leukemia: presentation and long-term follow-up. (23215773)
2013
4
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
5
Third ventricular cavernous malformation: an unusual lesion. (23952135)
2013
6
Brainstem cavernous malformation. (23761601)
2013
7
Prediction of outcomes for brainstem cavernous malformation. (23962756)
2013
8
Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation. (24034083)
2013
9
Concepts and hypothesis: integrin cytoplasmic domain-associated protein-1 (ICAP-1) as a potential player in cerebral cavernous malformation. (22711159)
2013
10
Cavernous malformation. (23039147)
2013
11
Is cerebral cavernous malformation a pre-glioma lesion? (23253728)
2012
12
Familial cerebral cavernous malformation. (22773461)
2012
13
Massive intracerebral hemorrhage caused by a cavernous malformation. (22396841)
2012
14
Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome. (23161195)
2012
15
Treatment of pediatric patients with cerebral cavernous malformation. (22209396)
2012
16
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
17
Radiation-induced cavernous malformation at the site of arteriovenous malformation following gamma knife radiosurgery: case report. (22456056)
2012
18
Trigonal cavernous malformation with intraventricular hemorrhage: a case report and literature review. (23037200)
2012
19
A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family. (20884211)
2011
20
Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. (21321212)
2011
21
Cavernous malformation of the trochlear nerve: case report and review of the literature on cranial nerve cavernomas. (21471828)
2011
22
Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype. (19833796)
2010
23
Intravenous thrombolysis in a patient with known cavernous malformation: a first case report. (20006229)
2010
24
Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations. (20488708)
2010
25
Intraventricular cavernous malformation with superficial siderosis. (20457968)
2010
26
A peri-trigonal giant tumefactive cavernous malformation: case report and review of literature. (20665038)
2010
27
Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach. (19199464)
2009
28
Phosphatase and tensin homolog in cerebral cavernous malformation: a potential role in pathological angiogenesis. (19061355)
2009
29
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. (18632209)
2008
30
Spinal root arteriovenous malformations and same-segment cord cavernous malformation in familial cerebral cavernous malformation. Case report. (18928219)
2008
31
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18380023)
2007
32
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383597)
2007
33
Spinal intradural-intramedullary cavernous malformation. Case report and literature review. (16357499)
2006
34
Thoracic intramedullary cavernous malformation with posttraumatic hematomyelia: case report and literature review. (17904054)
2006
35
Cavernous malformation of the internal auditory canal. (16572279)
2006
36
Cavernous malformation of the trigeminal nerve. (16565783)
2006
37
A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations. (16529293)
2006
38
Expression of integrins in cerebral arteriovenous and cavernous malformations. (16385340)
2006
39
Cerebral cavernous malformations]. (16100539)
2005
40
Thrombus and encapsulated hematoma in cerebral cavernous malformations. (15759126)
2005
41
Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation. (16186553)
2005
42
A novel gene mutation (1292 deletion) in a Chinese family with cerebral cavernous malformations. (15854263)
2005
43
Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations. (16239636)
2005
44
Suprasellar cavernous malformation presenting with extensive subarachnoid hemorrhage. (11338416)
2001
45
Chiasmal cavernous malformation. A rare cause of acute visual loss. (11327292)
2000
46
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). (10545614)
1999
47
De novo formation of a central nervous system cavernous malformation: implications for predicting risk of hemorrhage. Case report and review of the literature. (9322853)
1997
48
Recurrent chiasmal apoplexy due to cavernous malformation. (8797165)
1996
49
Stereotactically guided cavernous malformation surgery. (8811657)
1996
50
Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. (7604043)
1995

Variations for Cavernous Malformation

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Expression for genes affiliated with Cavernous Malformation

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cavernous Malformation

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Pathways for genes affiliated with Cavernous Malformation

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51PathCards, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters, 54QIAGEN, 56Reactome
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Compounds for genes affiliated with Cavernous Malformation

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46Novoseek, 62Tocris Bioscience, 12DrugBank
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Compounds related to Cavernous Malformation according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calyculin a46 62 1211.6KRIT1, PPP2R3B

GO Terms for genes affiliated with Cavernous Malformation

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17Gene Ontology
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Cellular components related to Cavernous Malformation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein phosphatase type 2A complexGO:0001599.1PPP2R3B, PPP2R5B
2cytoplasmGO:0057377.7KRIT1, ITGB1BP1, CCM2, MOB4, IGBP1, PPP2R5B

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

idNameGO IDScoreTop Affiliating Genes
1integrin-mediated signaling pathwayGO:0072299.4ITGB1BP1, CCM2
2regulation of catalytic activityGO:0507909.3KRIT1, PPP2R3B

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

idNameGO IDScoreTop Affiliating Genes
1protein phosphatase type 2A regulator activityGO:0086018.7IGBP1, PPP2R3B, PPP2R5B
2protein bindingGO:0055156.2PPP2R3B, IGBP1, MOB4, CCM2, ITGB1BP1, PDCD10

Products for genes affiliated with Cavernous Malformation

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  • Antibodies
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  • Antibodies

Sources for Cavernous Malformation

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet