MCID: CVR010
MIFTS: 29

Cavernous Malformation malady

Summaries for Cavernous Malformation

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NINDS:42 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 malformations-1 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 endothelial, brain and spinal cord, and related mouse phenotypes are vision/eye and craniofacial.

Aliases & Classifications for Cavernous Malformation

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Cavernous Malformation, Aliases & Descriptions:

Name: Cavernous Malformation 42


Related Diseases for Cavernous Malformation

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

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformations-131.3CCM2, PDCD10, KRIT1
2cerebral cavernous malformation, familial30.7CCM2, PDCD10, KRIT1
3vascular disease29.9CCM2, PDCD10, KRIT1
4klippel-trenaunay-weber syndrome29.8CCM2, PDCD10, KRIT1
5cerebritis11.1
6cerebral cavernous malformations 310.6
7endotheliitis10.4
8cavernous hemangioma10.4
9congenital vascular cavernous malformations10.4
10arteriovenous malformation10.3
11hemangioma10.3
12cerebral cavernous malformations-210.2
13siderosis10.2
14trigeminal neuralgia10.2
15cervicitis10.2
16familial cerebral cavernous malformation 110.2
17familial cerebral cavernous malformation 210.2
18familial cerebral cavernous malformation 310.2
19familial cerebral cavernous malformation 410.2
20familial hemangioma10.2
21nevus cavernosus10.2
22vascular erectile tumor10.2
23superficial siderosis10.2
24stroke, ischemic10.2CCM2, KRIT1
25neuronitis10.1
26astrocytoma10.1
27retinitis10.1
28aneurysm10.1
29human venous malformation10.0CCM2, PDCD10, KRIT1
30medulloblastoma10.0
31venous malformations, multiple cutaneous and mucosal10.0
32obsessive-compulsive disorder10.0
33moyamoya disease10.0
34migraine10.0
35choroid plexus papilloma10.0
36arteriovenous fistula10.0
37hepatitis10.0
38leukemia10.0
39sinusitis10.0
40portal hypertension10.0
41astroblastoma10.0
42poland syndrome10.0
43mutism10.0
44choroiditis10.0
45trigonitis10.0
46brain edema10.0
47angiokeratoma10.0
48glioblastoma multiforme10.0
49melanoma10.0
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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Drug clinical trials:

Search ClinicalTrials for Cavernous Malformation

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:

31
Endothelial, Brain, 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:

35
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 350)
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
Klippel-Trenaunay syndrome and cavernous malformations. (25293688)
2014
4
Case Report: Glioblastoma Multiforme Complicating Familial Cavernous Malformations. (23942770)
2013
5
Mapping affected sites of cavernous malformation in the posterior cranial fossa. (23981232)
2013
6
Cavernous malformations of the brain after treatment for acute lymphocytic leukemia: presentation and long-term follow-up. (23215773)
2013
7
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
8
Third ventricular cavernous malformation: an unusual lesion. (23952135)
2013
9
Brainstem cavernous malformation. (23761601)
2013
10
Prediction of outcomes for brainstem cavernous malformation. (23962756)
2013
11
Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation. (24034083)
2013
12
Concepts and hypothesis: integrin cytoplasmic domain-associated protein-1 (ICAP-1) as a potential player in cerebral cavernous malformation. (22711159)
2013
13
Cavernous malformation. (23039147)
2013
14
Is cerebral cavernous malformation a pre-glioma lesion? (23253728)
2012
15
Familial cerebral cavernous malformation. (22773461)
2012
16
Massive intracerebral hemorrhage caused by a cavernous malformation. (22396841)
2012
17
Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome. (23161195)
2012
18
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
19
Radiation-induced cavernous malformation at the site of arteriovenous malformation following gamma knife radiosurgery: case report. (22456056)
2012
20
Trigonal cavernous malformation with intraventricular hemorrhage: a case report and literature review. (23037200)
2012
21
A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family. (20884211)
2011
22
Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. (21321212)
2011
23
Cavernous malformation of the trochlear nerve: case report and review of the literature on cranial nerve cavernomas. (21471828)
2011
24
Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype. (19833796)
2010
25
Intravenous thrombolysis in a patient with known cavernous malformation: a first case report. (20006229)
2010
26
Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations. (20488708)
2010
27
Intraventricular cavernous malformation with superficial siderosis. (20457968)
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
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. (18632209)
2008
31
Spinal root arteriovenous malformations and same-segment cord cavernous malformation in familial cerebral cavernous malformation. Case report. (18928219)
2008
32
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18380023)
2007
33
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383597)
2007
34
Spinal intradural-intramedullary cavernous malformation. Case report and literature review. (16357499)
2006
35
Thoracic intramedullary cavernous malformation with posttraumatic hematomyelia: case report and literature review. (17904054)
2006
36
Cavernous malformation of the internal auditory canal. (16572279)
2006
37
Cavernous malformation of the trigeminal nerve. (16565783)
2006
38
A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations. (16529293)
2006
39
Expression of integrins in cerebral arteriovenous and cavernous malformations. (16385340)
2006
40
Cerebral cavernous malformations]. (16100539)
2005
41
Thrombus and encapsulated hematoma in cerebral cavernous malformations. (15759126)
2005
42
Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation. (16186553)
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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Search GEO for disease gene expression data for Cavernous Malformation.

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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1calyculin a43 59 1211.6KRIT1, PPP2R3B

GO Terms for genes affiliated with Cavernous Malformation

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Cellular components related to Cavernous Malformation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein phosphatase type 2A complexGO:00001599.1PPP2R3B, PPP2R5B
2cytoplasmGO:00057377.7KRIT1, ITGB1BP1, CCM2, MOB4, IGBP1, PPP2R5B

Biological processes related to Cavernous Malformation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1integrin-mediated signaling pathwayGO:00072299.4ITGB1BP1, CCM2
2regulation of catalytic activityGO:00507909.3KRIT1, PPP2R3B

Molecular functions related to Cavernous Malformation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein phosphatase type 2A regulator activityGO:00086018.7IGBP1, PPP2R3B, PPP2R5B
2protein bindingGO:00055156.2PPP2R3B, IGBP1, MOB4, CCM2, ITGB1BP1, PDCD10

Products for genes affiliated with Cavernous Malformation

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  • Antibodies
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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet