MCID: CVR010
MIFTS: 36

Cavernous Malformation malady

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Summaries for Cavernous Malformation

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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.

MalaCards based summary: Cavernous Malformation is related to cerebral cavernous malformation and cerebral cavernous malformations-1. 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:65 Cavernous hemangioma, also called cavernous angioma, or cavernoma (often when referring to presence in... more...

Aliases & Classifications for Cavernous Malformation

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Cavernous Malformation, Aliases & Descriptions:

Name: Cavernous Malformation 43


Related Diseases for Cavernous Malformation

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

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformation31.7CCM2, PDCD10, KRIT1
2cerebral cavernous malformations-130.9KRIT1
3cerebral cavernous malformation, familial30.7CCM2, PDCD10, KRIT1
4vascular disease30.0CCM2, PDCD10, KRIT1
5klippel-trenaunay syndrome29.8CCM2, PDCD10, KRIT1
6cerebritis11.1
7cerebral cavernous malformations 310.6
8endotheliitis10.4
9cavernous hemangioma10.4
10arteriovenous malformation10.3
11congenital vascular cavernous malformations10.3
12hemangioma10.3
13siderosis10.2
14cervicitis10.2
15familial hemangioma10.2
16nevus cavernosus10.2
17vascular erectile tumor10.2
18superficial siderosis10.2
19stroke, ischemic10.2CCM2, KRIT1
20trigonitis10.1
21trigeminal neuralgia10.1
22neuronitis10.1
23astrocytoma10.1
24meningioma10.1
25retinitis10.1
26familial cerebral cavernous malformation 110.1
27familial cerebral cavernous malformation 210.1
28familial cerebral cavernous malformation 310.1
29familial cerebral cavernous malformation 410.1
30aneurysm10.1
31cavernous malformations of cns and retina10.1
32human venous malformation10.1CCM2, PDCD10, KRIT1
33acute lymphocytic leukemia10.0
34arteriovenous fistula10.0
35hepatitis10.0
36hypertension10.0
37leukemia10.0
38sinusitis10.0
39astroblastoma10.0
40choroid plexus papilloma10.0
41poland syndrome10.0
42moyamoya disease10.0
43brain edema10.0
44multiple cutaneous and mucosal venous malformations10.0
45obsessive-compulsive disorder10.0
46portal hypertension10.0
47mutism10.0
48choroiditis10.0
49angiokeratoma10.0
50glioblastoma multiforme10.0

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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Drug clinical trials:

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Search NIH Clinical Center for Cavernous Malformation

Genetic Tests for Cavernous Malformation

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Anatomical Context for Cavernous Malformation

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MalaCards organs/tissues related to Cavernous Malformation:

32
Brain, Smooth muscle, Endothelial, Spinal cord, Testes, Cortex, Heart, Liver, Occipital lobe, Thalamus, Caudate nucleus, Medulla oblongata, Pineal

Animal Models for Cavernous Malformation or affiliated genes

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MGI Mouse Phenotypes related to Cavernous Malformation:

36
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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Articles related to Cavernous Malformation:

(show top 50)    (show all 339)
idTitleAuthorsYear
1
Brainstem melanomas presenting as a cavernous malformation. (24856047)
2014
2
A call for rigorous study of statins in resolution of cerebral cavernous malformation pathology. (24803598)
2014
3
Case Report: Glioblastoma Multiforme Complicating Familial Cavernous Malformations. (23942770)
2013
4
Mapping affected sites of cavernous malformation in the posterior cranial fossa. (23981232)
2013
5
Cavernous malformations of the brain after treatment for acute lymphocytic leukemia: presentation and long-term follow-up. (23215773)
2013
6
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
7
Third ventricular cavernous malformation: an unusual lesion. (23952135)
2013
8
Brainstem cavernous malformation. (23761601)
2013
9
Prediction of outcomes for brainstem cavernous malformation. (23962756)
2013
10
Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation. (24034083)
2013
11
Concepts and hypothesis: integrin cytoplasmic domain-associated protein-1 (ICAP-1) as a potential player in cerebral cavernous malformation. (22711159)
2013
12
Is cerebral cavernous malformation a pre-glioma lesion? (23253728)
2012
13
Familial cerebral cavernous malformation. (22773461)
2012
14
Massive intracerebral hemorrhage caused by a cavernous malformation. (22396841)
2012
15
Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome. (23161195)
2012
16
Treatment of pediatric patients with cerebral cavernous malformation. (22209396)
2012
17
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
18
Radiation-induced cavernous malformation at the site of arteriovenous malformation following gamma knife radiosurgery: case report. (22456056)
2012
19
Trigonal cavernous malformation with intraventricular hemorrhage: a case report and literature review. (23037200)
2012
20
A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family. (20884211)
2011
21
Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. (21321212)
2011
22
Cavernous malformation of the trochlear nerve: case report and review of the literature on cranial nerve cavernomas. (21471828)
2011
23
Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype. (19833796)
2010
24
Intravenous thrombolysis in a patient with known cavernous malformation: a first case report. (20006229)
2010
25
Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations. (20488708)
2010
26
Intraventricular cavernous malformation with superficial siderosis. (20457968)
2010
27
A peri-trigonal giant tumefactive cavernous malformation: case report and review of literature. (20665038)
2010
28
Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach. (19199464)
2009
29
Phosphatase and tensin homolog in cerebral cavernous malformation: a potential role in pathological angiogenesis. (19061355)
2009
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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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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Compounds for genes affiliated with Cavernous Malformation

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Compounds related to Cavernous Malformation according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calyculin a44 61 1111.6KRIT1, PPP2R3B

GO Terms for genes affiliated with Cavernous Malformation

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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:0086018.7PPP2R5B, PPP2R3B, IGBP1
2protein bindingGO:0055156.2PPP2R5B, PPP2R3B, IGBP1, MOB4, CCM2, ITGB1BP1

Products for genes affiliated with Cavernous Malformation

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Sources for 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