MCID: CVR010
MIFTS: 40

Cavernous Malformation

Categories: Blood diseases, Neuronal diseases

Aliases & Classifications for Cavernous Malformation

MalaCards integrated aliases for Cavernous Malformation:

Name: Cavernous Malformation 55

Classifications:



Summaries for Cavernous Malformation

NINDS : 55 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 2 and cerebral cavernous malformations 3. An important gene associated with Cavernous Malformation is CCM2 (CCM2 Scaffold Protein), and among its related pathways/superpathways are Development HGF signaling pathway and Development Endothelin-1/EDNRA signaling. The drugs Propranolol and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and endothelial, and related phenotypes are cardiovascular system and mortality/aging

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 90)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 2 33.1 CCM2 CCM2L KRIT1 MAP3K3 PDCD10
2 cerebral cavernous malformations 3 33.0 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10
3 cerebral cavernous malformations 32.6 CCM2 CCM2L ITGB1BP1 KRIT1 MAP3K3 PDCD10
4 cavernous hemangioma 32.3 CCM2 KRIT1 PDCD10
5 venous malformations, multiple cutaneous and mucosal 31.5 CCM2 KRIT1 PDCD10
6 klippel-trenaunay-weber syndrome 29.8 CCM2 KRIT1 PDCD10
7 human venous malformation 29.6 CCM2 KRIT1 PDCD10
8 cerebral cavernous malformation, familial 12.6
9 congenital vascular cavernous malformations 12.4
10 vascular erectile tumor 11.3
11 familial hemangioma 11.3
12 pulmonary artery coming from patent ductus arteriosus 10.9
13 hepatosplenic t-cell lymphoma 10.6
14 epilepsy 10.5
15 trigeminal neuralgia 10.2
16 arteriovenous malformation 10.2
17 siderosis 10.2
18 superficial siderosis 10.2
19 temporal lobe epilepsy 10.1
20 hypertrophic olivary degeneration 10.1
21 hemangioma 10.0
22 radiculopathy 10.0
23 glioma susceptibility 1 9.9
24 hemorrhage, intracerebral 9.9
25 glioblastoma multiforme 9.9
26 astrocytoma 9.9
27 arachnoid cysts 9.9
28 glioblastoma 9.9
29 glioma 9.9
30 phace syndrome 9.9
31 encephalopathy, familial, with neuroserpin inclusion bodies 9.9 PDCD10 SERPINI1
32 vascular hemostatic disease 9.9 CCM2 KRIT1
33 cell type benign neoplasm 9.8 CCM2 KRIT1 PDCD10
34 arteriovenous malformations of the brain 9.8
35 chiari malformation type i 9.8
36 renal cell carcinoma, nonpapillary 9.8
37 medulloblastoma 9.8
38 neurofibromatosis, type i 9.8
39 neurofibromatosis, type iv, of riccardi 9.8
40 obsessive-compulsive disorder 9.8
41 poland syndrome 9.8
42 moyamoya disease 1 9.8
43 papilloma of choroid plexus 9.8
44 wilson disease 9.8
45 aging 9.8
46 meningioma, familial 9.8
47 acute lymphocytic leukemia 9.8
48 arteriovenous fistula 9.8
49 leukemia 9.8
50 neutropenia 9.8

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



Diseases related to Cavernous Malformation

Symptoms & Phenotypes for Cavernous Malformation

MGI Mouse Phenotypes related to Cavernous Malformation:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.98 CCM2 CCM2L ITGB1 KRIT1 MAP3K3 PDCD10
2 mortality/aging MP:0010768 9.92 CCM2 CCM2L ITGB1 ITGB1BP1 KRIT1 MAP3K3
3 growth/size/body region MP:0005378 9.91 CCM2 ITGB1 ITGB1BP1 KRIT1 MAP3K3 PDCD10
4 embryo MP:0005380 9.88 CCM2 ITGB1 KRIT1 MAP3K3 PDCD10 PXN
5 muscle MP:0005369 9.73 CCM2 CCM2L ITGB1 KRIT1 MAP3K3 PDCD10
6 neoplasm MP:0002006 9.46 CCM2L ITGB1 KRIT1 PDCD10
7 normal MP:0002873 9.35 CCM2 CCM2L ITGB1 ITGB1BP1 PDCD10
8 vision/eye MP:0005391 9.02 CCM2 ITGB1 ITGB1BP1 KRIT1 PDCD10

Drugs & Therapeutics for Cavernous Malformation

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2,Phase 1 525-66-6 4946
2
Atorvastatin Approved Phase 1, Phase 2 134523-00-5 60823
3 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2,Early Phase 1
4 Antimetabolites Phase 1, Phase 2,Early Phase 1
5 Hypolipidemic Agents Phase 1, Phase 2,Early Phase 1
6 Lipid Regulating Agents Phase 1, Phase 2,Early Phase 1
7 Anticholesteremic Agents Phase 1, Phase 2,Early Phase 1
8 Adrenergic Antagonists Phase 2,Phase 1
9 Vasodilator Agents Phase 2,Phase 1
10 Adrenergic beta-Antagonists Phase 2,Phase 1
11 Anti-Arrhythmia Agents Phase 2,Phase 1
12 Neurotransmitter Agents Phase 2,Phase 1
13 Adrenergic Agents Phase 2,Phase 1
14 Antihypertensive Agents Phase 2,Phase 1
15
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
16 Antiparasitic Agents Phase 1
17 Antiprotozoal Agents Phase 1
18 Antimalarials Phase 1
19 Anti-Infective Agents Phase 1
20 Anti-Bacterial Agents Phase 1
21
Simvastatin Approved Early Phase 1 79902-63-9 54454
22 Astragalus
23 Neuroserpin
24 Analgesics
25 Anticonvulsants

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Treat_CCM: Propranolol in Cerebral Cavernous Malformation Recruiting NCT03589014 Phase 2 Propranolol
2 Effect of Oral Propranolol on mRNA Expresssion in Symptomatic Cavernous Malformation Recruiting NCT03474614 Phase 2 Propranolol
3 Atorvastatin Treatment of Cavernous Angiomas With Symptomatic Hemorrhage Exploratory Proof of Concept (AT CASH EPOC) Trial Recruiting NCT02603328 Phase 1, Phase 2 Atorvastatin
4 Influence of MMP on Brain AVM Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
5 Oral Propanolol for Surgically Inaccessible Cavernous Malformations Enrolling by invitation NCT03523650 Phase 1 Propranolol Oral Tablet;Placebo Oral Tablet
6 Genetic Disease Gene Identification Unknown status NCT00916903
7 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
8 Treatments and Outcomes of Untreated Cerebral Cavernous Malformations in CHina. Recruiting NCT03467295
9 CoHOrt of Cerebral CavernOus maLformATion: multicEnter Prospective Observational Study Recruiting NCT02946866
10 Modifiers of Disease Severity in Cerebral Cavernous Malformations Recruiting NCT01764529
11 CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness Recruiting NCT03652181

Search NIH Clinical Center for Cavernous Malformation

Genetic Tests for Cavernous Malformation

Anatomical Context for Cavernous Malformation

MalaCards organs/tissues related to Cavernous Malformation:

42
Brain, Spinal Cord, Endothelial, Testes, Pineal, Thalamus, Cortex

Publications for Cavernous Malformation

Articles related to Cavernous Malformation:

(show top 50) (show all 415)
# Title Authors Year
1
Recovery of consciousness after a brainstem cavernous malformation hemorrhage: A descriptive study of preserved reticular activating system with tractography. ( 30595167 )
2019
2
Orbital apex venous cavernous malformation with optic neuropathy: treatment with multisession gamma knife radiosurgery. ( 30612095 )
2019
3
Intraoperative facial motor evoked potential monitoring for pontine cavernous malformation resection. ( 30641834 )
2019
4
Transsylvian, Carotid-Oculomotor Triangle Approach for Resection of a Rapidly Enlarging Midbrain-Pontine Cavernous Malformation: 3-Dimensional Operative Video. ( 30649448 )
2019
5
Suboccipital Craniotomy for Resection of a Dorsal Medullary Cerebral Cavernous Malformation: 2-Dimensional Operative Video. ( 30649553 )
2019
6
KRIT1 Loss-Of-Function Associated with Cerebral Cavernous Malformation Disease Leads to Enhanced S-Glutathionylation of Distinct Structural and Regulatory Proteins. ( 30658464 )
2019
7
Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family. ( 30701383 )
2019
8
Comprehensive transcriptome analysis of cerebral cavernous malformation across multiple species and genotypes. ( 30728328 )
2019
9
Letter to the Editor. The treatment of cerebral cavernous malformation-related hemorrhage using β-blocker medication. ( 30771775 )
2019
10
Hemorrhage, seizures, and dynamic changes of familial versus non-familial cavernous malformation: systematic review and meta-analysis. ( 30851471 )
2019
11
Infratentorial Developmental Venous Abnormalities and Inflammation Increase Odds of Sporadic Cavernous Malformation. ( 30878367 )
2019
12
First case of neutropenia and thrombocytopenia in the setting of cerebral cavernous malformation 3. ( 30904992 )
2019
13
Cavernous malformation induced by stereotactic radiosurgery: A report and literature review. ( 29547177 )
2018
14
A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation. ( 29887830 )
2018
15
Intensive, functional training leads to optimal outcomes in a young woman post brain stem hemorrhage due to cerebral cavernous malformation. ( 29979899 )
2018
16
Plasma Biomarkers of Inflammation and Angiogenesis Predict Cerebral Cavernous Malformation Symptomatic Hemorrhage or Lesional Growth. ( 29720384 )
2018
17
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing. ( 29197946 )
2018
18
KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: Implication for Cerebral Cavernous Malformation disease. ( 29170092 )
2018
19
Transsylvian Transuncal Approach for an Anterior Midbrain Cavernous Malformation Resection: A Case Report. ( 29462451 )
2018
20
Repeat Radiosurgical Treatment after Cavernous Malformation Radiosurgery. ( 29969736 )
2018
21
Amide Proton Transfer Imaging of Cavernous Malformation in the Cavernous Sinus. ( 29540619 )
2018
22
Radiation-induced Cavernous Malformation as a Late Sequelae of Stereotactic Radiosurgery for Epilepsy. ( 29755904 )
2018
23
Superficial Siderosis Associated with Pineal Cavernous Malformation. ( 29017984 )
2018
24
Transsylvian-Transinsular Approach for an Insular Cavernous Malformation Resection: 3-Dimensional Operative Video. ( 29905877 )
2018
25
Long-Term Outcome of Gamma Knife Radiosurgery for Symptomatic Brainstem Cavernous Malformation. ( 29864574 )
2018
26
Dural-Based Cavernous Malformation at the Cerebral Convexity: Report of Two Pediatric Patients. ( 29331747 )
2018
27
Cystic Progression of a Cavernous Malformation at the Level of the Trigeminal Root Entry Zone Presenting With Sudden Onset of Trigeminal Neuralgia. ( 29570519 )
2018
28
Transcondylar approach for resection of lateral medullary cavernous malformation. ( 29086026 )
2018
29
Letter to the Editor Regarding "Long-Term Outcomes of Surgical Treatment in 181 Patients with Supratentorial Cerebral Cavernous Malformation-Associated Epilepsy". ( 29499589 )
2018
30
Surgical outcomes of spinal cord intramedullary cavernous malformation: a retrospective study of 83 patients in a single center over a 12-year period. ( 29959074 )
2018
31
Interhemispheric, Translamina Terminalis Approach for the Resection of Suprasellar Cavernous Malformation. ( 29588900 )
2018
32
C5-C6 Cervical Spinal Cord Cavernous Malformation Microsurgical Resection: 2-Dimensional Operative Video. ( 29635403 )
2018
33
Transient Focal Magnetic Resonance Imaging Abnormalities After Status Epilepticus Showed 11C-Methionine Uptake with Positron Emission Tomography in a Patient with Cerebral Cavernous Malformation. ( 29530707 )
2018
34
False lateralization of pre-surgical work-up in a child with a cortical cavernous malformation and intractable epilepsy. ( 29239163 )
2018
35
Occipital Neuralgia from C2 Cavernous Malformation. ( 29682056 )
2018
36
A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation. ( 29169046 )
2018
37
Endoscopic Resection of Hemorrhaged Third Ventricle Cavernous Malformation: 2-Dimensional Operative Video. ( 29920585 )
2018
38
Craniotomy for a large and aggressive de novo cavernous malformation resection in the basal ganglia region. ( 29929034 )
2018
39
Right Pretemporal-Transsylvian Approach for Resection of a Midbrain Cavernous Malformation: 3-Dimensional Operative Video. ( 30169830 )
2018
40
The cerebral cavernous malformation disease causing gene KRIT1 participates in intestinal epithelial barrier maintenance and regulation. ( 30252535 )
2018
41
Awake Craniotomy for the Removal of a Left Insular Cavernous Malformation. ( 30415050 )
2018
42
Left Transsylvian-Transinsular Approach for Radiation-Induced Cavernous Malformation: 3-Dimensional Operative Video. ( 30418603 )
2018
43
De novo cavernous malformation arising in the wall of vestibular schwannoma following stereotactic radiosurgery: case report and review of the literature. ( 30430258 )
2018
44
Surgical Management of Brainstem Cavernous Malformation: Report of 67 Patients. ( 30447450 )
2018
45
Biomechanics of Endothelial Tubule Formation Differentially Modulated by Cerebral Cavernous Malformation Proteins. ( 30453164 )
2018
46
Extended Retrosigmoid Approach for the Resection of a Pontomedullary Junction Cavernous Malformation. ( 30456048 )
2018
47
Surgical Resection of a Cavernous Malformation of the Anterior Perforated Substance: 2-Dimensional Operative Video. ( 30476203 )
2018
48
Emerging Pharmacologic Targets in Cerebral Cavernous Malformation and Potential Strategies to Alter the Natural History of a Difficult Disease: A Review. ( 30476961 )
2018
49
Keyhole, Trans-Sylvian, Trans-Sulcal Resection of an Insular Cerebral Cavernous Malformation: 2-Dimensional Operative Video. ( 30496497 )
2018
50
Multifunctional Platinum@BSA-Rapamycin Nanocarriers for the Combinatorial Therapy of Cerebral Cavernous Malformation. ( 30556006 )
2018

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 ITGB1 MAP3K3 PXN
2
Show member pathways
12.29 ITGB1 MAP3K3 PXN
3
Show member pathways
11.98 ITGB1 MAP3K3 PXN
4
Show member pathways
11.68 ITGB1 ITGB1BP1 PXN
5
Show member pathways
11.64 ITGB1 ITGB1BP1 MAP3K3 PXN
6 11.44 PDCD10 SERPINI1
7 11.39 ITGB1 PXN
8 11.36 ITGB1 PXN
9 11.29 ITGB1 ITGB1BP1 PXN
10 11.23 ITGB1 PXN
11 11.19 ITGB1 PXN
12 11.05 ITGB1 PXN
13
Show member pathways
11.01 ITGB1 PXN
14 10.72 CCM2 MAP3K3
15 10.59 CCM2 MAP3K3

GO Terms for Cavernous Malformation

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

# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.13 ITGB1 ITGB1BP1 PXN
2 lamellipodium GO:0030027 8.8 ITGB1 ITGB1BP1 PXN

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of protein binding GO:0032091 9.4 CCM2L ITGB1BP1
2 positive regulation of stress fiber assembly GO:0051496 9.37 ITGB1BP1 PXN
3 positive regulation of Notch signaling pathway GO:0045747 9.32 ITGB1BP1 PDCD10
4 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.26 ITGB1BP1 PDCD10
5 stress fiber assembly GO:0043149 9.16 ITGB1 PDCD10
6 cell-matrix adhesion GO:0007160 9.13 ITGB1 ITGB1BP1 PXN
7 integrin-mediated signaling pathway GO:0007229 8.8 CCM2 ITGB1 ITGB1BP1

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.13 ITGB1 ITGB1BP1 PXN
2 protein-containing complex binding GO:0044877 8.92 ITGB1 ITGB1BP1 KRIT1 PXN

Sources for Cavernous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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