MCID: CVR010
MIFTS: 37

Cavernous Malformation malady

Aliases & Classifications for Cavernous Malformation

Aliases & Descriptions for Cavernous Malformation:

Name: Cavernous Malformation 51

Summaries for Cavernous Malformation

NINDS : 51 Cerebral cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood vessels (capillaries) that displace normal neurological tissue in the brain or spinal cord. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a state of decomposition. Cavernous malformations can occur in the brain, spinal cord, and some other body regions. In the brain and spinal cord these cavernous lesions are quite fragile and are prone to bleeding, causing hemorrhagic strokes (bleeding into the brain), seizures, and neurological deficits. CCMs can range in size from a few fractions of an inch to several inches in diameter, depending on the number of blood vessels involved. Some people develop multiple lesions while others never experience related medical problems. Hereditary forms of CCM are caused by mutations in one of three CCM disease genes: CCM1, CCM2, and CCM3. A large population with hereditary CCM disease is found in New Mexico and the Southwestern United States, in which the disease is caused by mutations in the gene CCM1 (or KRIT1).

MalaCards based summary : Cavernous Malformation is related to cerebral cavernous malformations 3 and congenital vascular cavernous malformations. An important gene associated with Cavernous Malformation is CCM2 (CCM2 Scaffolding Protein), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Focal Adhesion. The drugs Hydroxymethylglutaryl-CoA Reductase Inhibitors and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and endothelial, and related phenotypes are Increased cell death HMECs cells and cardiovascular system

Related Diseases for Cavernous Malformation

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

(show top 50) (show all 82)
id Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 3 12.4
2 congenital vascular cavernous malformations 12.1
3 cerebral cavernous malformation, familial 12.1
4 cerebral cavernous malformations-1 12.0
5 familial cerebral cavernous malformation 2 11.9
6 familial cerebral cavernous malformation 3 11.9
7 familial cerebral cavernous malformation 1 11.9
8 familial cerebral cavernous malformation 4 11.9
9 cerebral cavernous malformations-2 11.7
10 cavernous hemangioma 11.4
11 familial hemangioma 11.0
12 vascular erectile tumor 11.0
13 venous malformations, multiple cutaneous and mucosal 10.9
14 cerebritis 10.7
15 hepatosplenic t-cell lymphoma 10.3
16 endotheliitis 10.1
17 chondrodysplasia punctata 1, x-linked 10.0 CCM2 KRIT1 PDCD10
18 ichthyosis lamellar 1 10.0 CCM2 KRIT1 PDCD10
19 cerebellar astrocytoma 10.0 CCM2 KRIT1 PDCD10
20 nail disorder, nonsyndromic congenital, 10, 10.0 CCM2 KRIT1 PDCD10
21 epilepsy 10.0
22 weyers ulnar ray/oligodactyly syndrome 10.0 CCM2 KRIT1 PDCD10
23 breast ductal carcinoma 10.0 CTNNB1 PTEN
24 fibromatosis, gingival, 1 10.0 CTNNB1 PTEN
25 arteriovenous malformation 10.0
26 adult syndrome 9.9 CTNNB1 PTEN
27 hemangioma 9.9
28 acromesomelic dysplasia, maroteaux type 9.8 CCM2 KRIT1 PDCD10 PTEN
29 thyrotoxic periodic paralysis 2 9.8 CTNNB1 PTEN
30 trigeminal neuralgia 9.8
31 cervicitis 9.8
32 superficial siderosis 9.8
33 siderosis 9.8
34 aneurysm 9.7
35 neuronitis 9.7
36 melanoma 9.7
37 astrocytoma 9.7
38 glioma 9.7
39 hypertrophic olivary degeneration 9.7
40 retinitis 9.7
41 vascular malformation 9.7
42 trigonitis 9.7
43 pallister-hall syndrome 9.6 CCM2 CCM2L KRIT1 MAP3K3 PDCD10
44 retinitis pigmentosa 68 9.6 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10
45 pineal parenchymal tumor of intermediate differentiation 9.6 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10
46 moyamoya disease 9.6
47 vascular disease 9.6
48 astroblastoma 9.6
49 chiari malformation type i 9.6
50 neuritis 9.6

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



Diseases related to Cavernous Malformation

Symptoms & Phenotypes for Cavernous Malformation

GenomeRNAi Phenotypes related to Cavernous Malformation according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.92 CTNNB1 MAP3K3 PDCD10 PTEN

MGI Mouse Phenotypes related to Cavernous Malformation:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 CTNNB1 MAP3K3 ITGB1 PDCD10 CCM2 CCM2L
2 growth/size/body region MP:0005378 10.01 KRIT1 CTNNB1 MAP3K3 ITGB1 CCM2 ITGB1BP1
3 embryo MP:0005380 9.98 CTNNB1 MAP3K3 ITGB1 CCM2 KRIT1 PDCD10
4 mortality/aging MP:0010768 9.97 KRIT1 CTNNB1 MAP3K3 ITGB1 CCM2 ITGB1BP1
5 muscle MP:0005369 9.86 MAP3K3 ITGB1 PDCD10 CCM2 CCM2L KRIT1
6 craniofacial MP:0005382 9.85 KRIT1 CTNNB1 ITGB1 CCM2 ITGB1BP1
7 integument MP:0010771 9.85 KRIT1 CTNNB1 ITGB1 CCM2 PDCD10 PTEN
8 neoplasm MP:0002006 9.63 CTNNB1 ITGB1 CCM2L KRIT1 PDCD10 PTEN
9 normal MP:0002873 9.5 CTNNB1 ITGB1 CCM2 ITGB1BP1 CCM2L PDCD10
10 vision/eye MP:0005391 9.17 CTNNB1 ITGB1 PDCD10 CCM2 ITGB1BP1 KRIT1

Drugs & Therapeutics for Cavernous Malformation

Drugs for Cavernous Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2,Early Phase 1
2 Hypolipidemic Agents Phase 1, Phase 2,Early Phase 1
3 Anticholesteremic Agents Phase 1, Phase 2,Early Phase 1
4 Lipid Regulating Agents Phase 1, Phase 2,Early Phase 1
5 Antimetabolites Phase 1, Phase 2,Early Phase 1
6 Atorvastatin Calcium Phase 1, Phase 2 134523-03-8
7 Calcium, Dietary Phase 1, Phase 2
8
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
9 Anti-Bacterial Agents Phase 1
10 Anti-Infective Agents Phase 1
11 Antimalarials Phase 1
12 Antiparasitic Agents Phase 1
13 Antiprotozoal Agents Phase 1
14
Simvastatin Approved Early Phase 1 79902-63-9 54454
15 Neuroserpin
16
Cobalt 7440-48-4 104729
17 Astragalus Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Intracavernous Bone Marrow Stem-cell Injection for Post Prostatectomy Erectile Dysfunction Completed NCT01089387 Phase 1, Phase 2
2 Atorvastatin Therapy in Cerebral Cavernous Malformation, Exploratory Proof of Concept Trial Not yet recruiting NCT02603328 Phase 1, Phase 2
3 Influence of MMP on Brain AVM Hemorrhage Completed NCT00783523 Phase 1
4 Genetic Disease Gene Identification Unknown status NCT00916903
5 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1
6 CoHOrt of Cerebral CavernOus maLformATion: multicEnter Prospective Observational Study Recruiting NCT02946866
7 Modifiers of Disease Severity in Cerebral Cavernous Malformations Recruiting NCT01764529
8 A Prospective Study on the Incidence and Related Risk Factors of Infantile Hemangioma in China Recruiting NCT03173352
9 New Covered Stent (Willis) for the Endovascular Reconstruction of Intracranial Vessel Wall Defects Registry Not yet recruiting NCT02820779

Search NIH Clinical Center for Cavernous Malformation

Genetic Tests for Cavernous Malformation

Anatomical Context for Cavernous Malformation

MalaCards organs/tissues related to Cavernous Malformation:

39
Brain, Spinal Cord, Endothelial, Thalamus, Testes, Heart, Caudate Nucleus

Publications for Cavernous Malformation

Articles related to Cavernous Malformation:

(show top 50) (show all 421)
id Title Authors Year
1
Genetically diagnosed Birt-Hogg-DubAc syndrome and familial cerebral cavernous malformations in the same individual: a case report. ( 27722904 )
2017
2
Endothelial exocytosis of angiopoietin-2 resulting from CCM3 deficiency contributes to cerebral cavernous malformation. ( 27548575 )
2016
3
Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population. ( 27649701 )
2016
4
A giant frontal cavernous malformation with review of literature. ( 27114662 )
2016
5
Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity? ( 26743915 )
2016
6
Cavernous malformation in the conus medullaris: A rare report. ( 27381145 )
2016
7
Introduction to Cerebral Cavernous Malformation: a brief review. ( 26923303 )
2016
8
Hyperintense perilesional edema in the brain on T1-weighted images: Cavernous malformation or metastatic melanoma? Three case reports and literature review. ( 26838172 )
2016
9
Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1. ( 26795600 )
2016
10
Hyper-vascular giant cavernous malformation in a child: a case report and review. ( 27585994 )
2016
11
Psammomatous Cavernous Malformation Presenting as Drug-Resistant Epilepsy: Case Illustration and Review of Literature. ( 27283183 )
2016
12
Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling. ( 27027284 )
2016
13
The relation between angioarchitectural factors of developmental venous anomaly and concomitant sporadic cavernous malformation. ( 27660100 )
2016
14
Endoscope-assisted supracerebellar transtentorial approach to the posterior medial temporal lobe for resection of cavernous malformation. ( 26722685 )
2016
15
Cavernous malformation of the optic chiasm: Neuro-endoscopic removal. ( 26889286 )
2016
16
Metastatic renal cell carcinoma metastasising into a cerebral cavernous malformation. ( 27566437 )
2016
17
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations. ( 27587990 )
2016
18
PHACE syndrome is associated with intracranial cavernous malformations. ( 27125518 )
2016
19
Cavernous malformation of the seventh cranial nerve- case report and review of literature. ( 27155386 )
2016
20
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene. ( 27462358 )
2016
21
DeA novo formation of cerebral cavernous malformation adjacent to existing developmental venous anomaly - an effect of change in venous pressure associated with management of a complex dural arterio-venous fistula. ( 27562580 )
2016
22
Treatment of Nystagmus in Brainstem Cavernous Malformation with Botulinum Toxin. ( 27182467 )
2016
23
Beyond multiple mechanisms and a unique drug: Defective autophagy as pivotal player in cerebral cavernous malformation pathogenesis and implications for targeted therapies. ( 27141412 )
2016
24
Cerebral cavernous malformation in a woman presenting with hemichorea: Response to haloperidol. ( 26964513 )
2016
25
The anterior interhemispheric approach to a third ventricular cavernous malformation. ( 26722693 )
2016
26
Outcome after conservative management or surgical treatment for new-onset epilepsy in cerebral cavernous malformation. ( 27367244 )
2016
27
Endothelial Cells Lining Sporadic Cerebral Cavernous Malformation Cavernomas Undergo Endothelial-to-Mesenchymal Transition. ( 26839352 )
2016
28
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. ( 27737651 )
2016
29
Peripheral plasma vitamin D and non-HDL cholesterol reflect the severity of cerebral cavernous malformation disease. ( 26861901 )
2016
30
Systemic Expression of Vascular Endothelial Growth Factor in Patients with Cerebral Cavernous Malformation Treated by Stereotactic Radiosurgery. ( 27651861 )
2016
31
Natural history of cavernous malformation: Systematic review and meta-analysis of 25 studies. ( 27164680 )
2016
32
Giant cavernous malformation in the ventrolateral midbrain with extension into the thalamus: a case report of a paramedian supracerebellar transtentorial approach. ( 27328840 )
2016
33
Dysregulated exocytosis of angiopoietin-2 drives cerebral cavernous malformation. ( 27603130 )
2016
34
Oxidative stress and inflammation in cerebral cavernous malformation disease pathogenesis: Two sides of the same coin. ( 27639680 )
2016
35
Microsurgical Treatment of Thalamic Cavernous Malformation: 3-Dimensional Operative Video. ( 26308627 )
2015
36
Cavernous Malformation in the Trigeminal Distribution. Aggressive Presentation and Management: Case Report. ( 26548819 )
2015
37
Cavernous malformation of the optic chiasm: An uncommon location. ( 25949848 )
2015
38
Structure and vascular function of MEKK3-cerebral cavernous malformations 2 complex. ( 26235885 )
2015
39
PDCD10 (CCM3) regulates brain endothelial barrier integrity in cerebral cavernous malformation type 3: role of CCM3-ERK1/2-cortactin cross-talk. ( 26385474 )
2015
40
Endoscopic endonasal transclival approach to a pontine cavernous malformation: case report. ( 26154899 )
2015
41
Long-Term Outcome of Endonasal Transsphenoidal Approach for the Treatment of Pontine Cavernous Malformation: Case Report with 11 Years of Follow-Up. ( 26008953 )
2015
42
Two cases of cavernous malformation presenting with unusual and large intracerebral hemorrhages. ( 25874183 )
2015
43
Extradural spinal cavernous malformation presenting with radiculopathy. ( 26386177 )
2015
44
The Role of Hemosiderin Excision in Seizure Outcome in Cerebral Cavernous Malformation Surgery: A Systematic Review and Meta-Analysis. ( 26305879 )
2015
45
Structural Insights into the Molecular Recognition between Cerebral Cavernous Malformation 2 and Mitogen-Activated Protein Kinase Kinase Kinase 3. ( 25982527 )
2015
46
The cerebral cavernous malformation pathway controls cardiac development via regulation of endocardial MEKK3 signaling and KLF expression. ( 25625206 )
2015
47
Delayed diagnosis of vestibular epilepsy due to temporal cavernous malformation. ( 25819120 )
2015
48
A large cavernous malformation of the third ventricle floor: A case report. ( 26652881 )
2015
49
Characterization of radiation-induced cavernous malformations and comparison with a nonradiation cavernous malformation cohort. ( 25699412 )
2015
50
Inclusion of Attentional Networks in the Pre-Surgical Neuroimaging Assessment of a Large Deep Hemispheric Cavernous Malformation: An fMRI Case Report. ( 25791396 )
2015

Variations for Cavernous Malformation

Expression for Cavernous Malformation

Search GEO for disease gene expression data for Cavernous Malformation.

Pathways for Cavernous Malformation

Pathways related to Cavernous Malformation according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 CTNNB1 ITGB1 MAP3K3 PTEN
2
Show member pathways
12.32 CTNNB1 ITGB1 MAP3K3 PTEN
3
Show member pathways
12.14 CTNNB1 ITGB1 MAP3K3 PTEN
4
Show member pathways
11.99 CTNNB1 ITGB1 PTEN
5
Show member pathways
11.95 CTNNB1 ITGB1 MAP3K3 PTEN
6 11.14 CTNNB1 ITGB1
7 11.08 CTNNB1 ITGB1
8 10.95 ITGB1 ITGB1BP1 PTEN
9 10.92 ITGB1 PTEN
10 10.87 CCM2 MAP3K3
11 10.75 CCM2 MAP3K3

GO Terms for Cavernous Malformation

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.76 CCM2 CTNNB1 ITGB1 ITGB1BP1 KRIT1 MAP3K3
2 intercalated disc GO:0014704 8.96 CTNNB1 ITGB1
3 lamellipodium GO:0030027 8.8 CTNNB1 ITGB1 ITGB1BP1

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.75 CTNNB1 ITGB1 PTEN
2 heart development GO:0007507 9.72 CCM2 CTNNB1 PTEN
3 angiogenesis GO:0001525 9.7 KRIT1 PDCD10 PTEN
4 in utero embryonic development GO:0001701 9.69 CCM2 CTNNB1 ITGB1
5 cell migration GO:0016477 9.67 ITGB1 ITGB1BP1 PTEN
6 vasculogenesis GO:0001570 9.57 CCM2 CTNNB1
7 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.56 ITGB1BP1 PTEN
8 positive regulation of Notch signaling pathway GO:0045747 9.54 ITGB1BP1 PDCD10
9 cardiac muscle tissue development GO:0048738 9.48 ITGB1 PTEN
10 vasculature development GO:0001944 9.46 CCM2 CTNNB1
11 negative regulation of focal adhesion assembly GO:0051895 9.43 ITGB1BP1 PTEN
12 cell-matrix adhesion GO:0007160 9.43 CTNNB1 ITGB1 ITGB1BP1
13 stress fiber assembly GO:0043149 9.4 ITGB1 PDCD10
14 cell fate specification GO:0001708 9.37 CTNNB1 ITGB1
15 integrin-mediated signaling pathway GO:0007229 9.33 CCM2 ITGB1 ITGB1BP1
16 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.32 ITGB1BP1 PDCD10
17 positive regulation of cell proliferation GO:0008284 9.02 CTNNB1 ITGB1 ITGB1BP1 PDCD10 PTEN
18 endothelial tube morphogenesis GO:0061154 8.96 CCM2 CTNNB1

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

id Name GO ID Score Top Affiliating Genes
1 protein complex binding GO:0032403 9.13 ITGB1 ITGB1BP1 KRIT1
2 protein kinase binding GO:0019901 8.92 CTNNB1 ITGB1BP1 PDCD10 PTEN

Sources for Cavernous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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