MCID: CVR010
MIFTS: 29

Cavernous Malformation

Categories: Blood diseases, Neuronal diseases

Aliases & Classifications for Cavernous Malformation

MalaCards integrated aliases for Cavernous Malformation:

Name: Cavernous Malformation 53

Classifications:



Summaries for Cavernous Malformation

NINDS : 53 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 malformation, familial and cerebral cavernous malformations. An important gene associated with Cavernous Malformation is CCM2 (CCM2 Scaffold Protein). The drugs Atorvastatin and Propranolol have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and endothelial, and related phenotype is Decreased cell proliferation.

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 165)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformation, familial 32.5 PDCD10 KRIT1 CCM2
2 cerebral cavernous malformations 31.2 STK25 PDCD10 KRIT1 ITGB1BP1 CCM2L CCM2
3 cerebral cavernous malformations 3 31.2 STK26 STK25 PDCD10 KRIT1 CCM2
4 cerebral cavernous malformations 2 30.7 STK25 PDCD10 KRIT1 ITGB1BP1 CCM2L CCM2
5 hemangioma 30.5 PDCD10 KRIT1 CCM2
6 cavernous hemangioma 30.2 PDCD10 KRIT1 CCM2
7 vascular disease 30.0 PDCD10 KRIT1 CCM2
8 cerebral angioma 29.6 PDCD10 KRIT1 CCM2
9 hydrocephalus 10.4
10 epilepsy 10.4
11 arteriovenous malformation 10.3
12 ataxia and polyneuropathy, adult-onset 10.3
13 meningioma, familial 10.3
14 intracranial meningioma 10.3
15 secretory meningioma 10.3
16 lymphoplasmacyte-rich meningioma 10.3
17 cerebrovascular disease 10.3
18 pathologic nystagmus 10.3
19 trigeminal neuralgia 10.2
20 seizure disorder 10.2
21 telangiectasis 10.2
22 glioma susceptibility 1 10.2
23 aphasia 10.2
24 acoustic neuroma 10.2
25 facial paralysis 10.2
26 obstructive hydrocephalus 10.2
27 malignant astrocytoma 10.2
28 glioma 10.2
29 glial tumor 10.2
30 siderosis 10.1
31 neurilemmoma 10.1
32 craniopharyngioma 10.1
33 headache 10.1
34 tremor 10.1
35 superficial siderosis 10.1
36 medulloblastoma 10.0
37 ptosis 10.0
38 low grade glioma 10.0
39 focal epilepsy 10.0
40 temporal lobe epilepsy 10.0
41 radiculopathy 10.0
42 benign ependymoma 10.0
43 cellular ependymoma 10.0
44 exophthalmos 10.0
45 hypertrophic olivary degeneration 10.0
46 dysphagia 10.0
47 ocular motor apraxia 10.0
48 myasthenic syndrome, congenital, 1b, fast-channel 10.0
49 hemorrhage, intracerebral 10.0
50 chorea, childhood-onset, with psychomotor retardation 10.0

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell proliferation GR00353-A 8.62 STK25 STK26

Drugs & Therapeutics for Cavernous Malformation

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 1, Phase 2 134523-00-5 60823
2
Propranolol Approved, Investigational Phase 2 525-66-6 4946
3 Anticholesteremic Agents Phase 1, Phase 2
4 Antimetabolites Phase 1, Phase 2
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
6 Hypolipidemic Agents Phase 1, Phase 2
7 Lipid Regulating Agents Phase 1, Phase 2
8 Anti-Arrhythmia Agents Phase 2
9 Vasodilator Agents Phase 2
10 Adrenergic Antagonists Phase 2
11 Adrenergic beta-Antagonists Phase 2
12 Adrenergic Agents Phase 2
13 Neurotransmitter Agents Phase 2
14 Antihypertensive Agents Phase 2
15
Simvastatin Approved Early Phase 1 79902-63-9 54454
16 Anticonvulsants
17 Analgesics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treat_CCM Clinical Trial A Multicenter Randomized Clinical Trial on Propranolol in Cerebral Cavernous Malformation Unknown status NCT03589014 Phase 2 Propranolol
2 Phase I-II Randomized, Placebo-Controlled, Single-Blinded, Single-Site Clinical Trial of Atorvastatin in the Treatment of Cavernous Angiomas With Symptomatic Hemorrhage Exploratory Proof of Concept (AT CASH EPOC) Recruiting NCT02603328 Phase 1, Phase 2 Atorvastatin
3 Effect of Oral Propranolol on mRNA Expression in Symptomatice Caavernous Malformation Active, not recruiting NCT03474614 Phase 2 Propranolol
4 Oral Propanolol for Surgically Inaccessible Cerebral and Spinal Cavernous Malformations Unknown status NCT03523650 Phase 1 Propranolol Oral Tablet;Placebo Oral Tablet
5 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
6 Quantitative Susceptibility Mapping Biomarker, Brain Structure and Connectome Associated With Cerebral Cavernous Malformation Related Epilepsy and Outcome After Surgery Recruiting NCT04076449
7 Biomarkers of Cerebral Cavernous Angioma With Symptomatic Hemorrhage (CASH) Recruiting NCT04467489
8 Treatments and Outcomes of Untreated Cerebral Cavernous Malformations in CHINA (TOUCH): A Nationwide Multicenter Prospective Cohort Study. Recruiting NCT03467295
9 Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations Recruiting NCT01764529
10 A Prospective Study for the Natural History and the Risk Factors of Prospective Symptomatic Hemorrhage in Adult Patients With Cerebral Cavernous Malformation Active, not recruiting NCT02946866

Search NIH Clinical Center for Cavernous Malformation

Genetic Tests for Cavernous Malformation

Anatomical Context for Cavernous Malformation

MalaCards organs/tissues related to Cavernous Malformation:

40
Brain, Spinal Cord, Endothelial, Temporal Lobe, Kidney, Pineal, Cortex

Publications for Cavernous Malformation

Articles related to Cavernous Malformation:

(show top 50) (show all 977)
# Title Authors PMID Year
1
CCM2L (Cerebral Cavernous Malformation 2 Like) Deletion Aggravates Cerebral Cavernous Malformation Through Map3k3-KLF Signaling Pathway. 61
33657857 2021
2
Intracranial long-term complications of radiation therapy: an image-based review. 61
33392738 2021
3
Exoscopic to Endoscopic Channel-Based Trans-Sulcal Resection of a Third Ventricular Cavernous Malformation: Technical Case Illustration. 61
33453424 2021
4
Localizing Thalamomesencephalic Afferent and Efferent Pupillary Defects. 61
32028453 2021
5
Cerebral Cavernous Malformation 2 Syndrome Presenting With Retinal Cavernous Hemangioma and Sixth Cranial Nerve Palsy. 61
33729445 2021
6
Medial-tonsillar telovelar approach for resection of a superior medullary velum cerebral cavernous malformation: anatomical and tractography study of the surgical approach and functional implications. 61
32524247 2021
7
Acute Presentation of Third Ventricular Cavernous Malformation following COVID-19 Infection in a Pregnant Woman: A Case Report. 61
33771616 2021
8
Cerebral Cavernous Malformation 1 Determines YAP/TAZ Signaling-Dependent Metastatic Hallmarks of Prostate Cancer Cells. 61
33807895 2021
9
Lateral Myelotomy for Resection of a Ruptured Intramedullary Cervico-Thoracic Cavernous Malformation. 61
33372222 2021
10
Holmes tremor in a monocentric series of resected brainstem cavernomas. 61
33753127 2021
11
Letter to the Editor. Bleeding risk after cavernous malformation surgery: remnant or recurrence? 61
33711810 2021
12
Cavernous malformation surgery in the United States: validation of a novel ICD-10-CM code search algorithm and volume-driven surgical outcomes. 61
33640531 2021
13
Calcified extra-axial cavernous malformation arising from lower cranial nerves: A case report and literature review. 61
33592913 2021
14
Health-related quality of life in patients with untreated cavernous malformations of the central nervous system. 61
32961598 2021
15
Seizure outcome in patients with cavernous malformation after early surgery. 61
33339740 2021
16
Microsurgical Resection of a Pontine Cavernoma Using an Expanded Retrosigmoid Corridor: 2-Dimensional Operative Video. 61
33609126 2021
17
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants. 61
33604894 2021
18
Cerebral cavernous malformation: Management and outcome during pregnancy and puerperium. A systematic review of literature. 61
33035718 2021
19
Connecting the αα-hubs: same fold, disordered ligands, new functions. 61
33407551 2021
20
Coexistence of Cerebral Calcified Cavernous Malformation and Developmental Venous Anomaly. 61
32833822 2021
21
Towards precision nanomedicine for cerebrovascular diseases with emphasis on Cerebral Cavernous Malformation (CCM). 61
33406376 2021
22
Third Ventricle Cavernous Malformation and Obstructive Hydrocephalus Thought to Be a Colloid Cyst. 61
33010503 2021
23
Neurovascular disease and syndromes: Diagnosis and therapy in children. 61
33272401 2021
24
[Electroconvulsive therapy in a female patient with a cavernous malformation in the medulla oblongata]. 61
33051863 2021
25
Clinical features and long-term outcomes of pediatric spinal cord cavernous malformation-a report of 18 cases and literature review. 61
32591875 2021
26
Cavernous malformation of the intracranial optic nerve with operative video and review of the literature. 61
33334745 2020
27
Functional outcome after surgical treatment of cavernous malformation involving ocular motor cranial nerves: A systematic review. 61
33317737 2020
28
Optimal access route for pontine cavernous malformation resection with preservation of abducens and facial nerve function. 61
33307526 2020
29
Predictors of Outcome in Patients with Medullary Hemorrhage. 61
33007679 2020
30
Hemorrhaging from an Intramedullary Cavernous Malformation Diagnosed due to Recurrent Pneumonia and Diffuse Aspiration Bronchiolitis. 61
33281156 2020
31
Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells. 61
32877751 2020
32
Radiation-induced cerebral cavernous malformation: is it just a childhood disease? 61
33345637 2020
33
Rare asymptomatic giant cerebral cavernous malformation in adults: two case reports and a literature review. 61
33307903 2020
34
Generation of an integration-free induced pluripotent stem cell line (UNC001-A) from blood of a healthy individual. 61
33038744 2020
35
Mapping endothelial-cell diversity in cerebral cavernous malformations at single-cell resolution. 61
33138917 2020
36
Signalling through cerebral cavernous malformation protein networks. 61
33234067 2020
37
Radiation-induced cavernous malformation after stereotactic radiosurgery for cavernous sinus meningioma: a case report. 61
33218314 2020
38
Clinical features and long-term surgical outcomes of pure spinal epidural cavernous hemangioma-report of 23 cases. 61
32447564 2020
39
Cerebral cavernous malformation remnants after surgery: a single-center series with long-term bleeding risk analysis. 61
33211201 2020
40
Unusual finding in a cerebral cavernous malformation of the temporal lobe. 61
32663731 2020
41
Pathological Changes in Surgically Resected Cystic Cerebral Cavernous Malformation 13 Years After Radiosurgery: Case Report and Review of the Literature. 61
32679360 2020
42
A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene. 61
32170606 2020
43
Intracranial meningioma and concomitant cavernous malformation: A series description and review of the literature. 61
32861039 2020
44
[A Case of Putaminal Hemorrhage Caused by Underlying Tectal Glioblastoma]. 61
33071228 2020
45
Common transcriptome, plasma molecules, and imaging signatures in the aging brain and a Mendelian neurovascular disease, cerebral cavernous malformation. 61
32556941 2020
46
Treatments and outcomes of untreated cerebral cavernous malformations in China: study protocol of a nationwide multicentre prospective cohort study. 61
33122314 2020
47
First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient. 61
32615293 2020
48
Prevalence of cerebrovascular diseases that can cause hemorrhagic stroke in liver transplantation recipients: a 6-year comparative study with 24,681 healthy adults. 61
33125597 2020
49
Morbidity After Symptomatic Hemorrhage of Cerebral Cavernous Malformation: A Nomogram Approach to Risk Assessment. 61
32951540 2020
50
Using the Lateral Pontine Safe Entry Zone for Resection of Deep-Seated Cavernous Malformations in the Lateral Pons: 2-Dimensional Operative Video. 61
32442280 2020

Variations for Cavernous Malformation

Expression for Cavernous Malformation

Search GEO for disease gene expression data for Cavernous Malformation.

Pathways for Cavernous Malformation

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 cell periphery GO:0071944 8.62 STK26 ITGB1BP1

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

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.54 PDCD10 KRIT1 ITGB1BP1
2 integrin-mediated signaling pathway GO:0007229 9.46 ITGB1BP1 CCM2
3 positive regulation of Notch signaling pathway GO:0045747 9.43 PDCD10 ITGB1BP1
4 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.4 PDCD10 ITGB1BP1
5 response to hydrogen peroxide GO:0042542 9.33 STK26 STK25 PDCD10
6 positive regulation of stress-activated MAPK cascade GO:0032874 9.32 STK25 PDCD10
7 establishment of Golgi localization GO:0051683 9.26 STK25 PDCD10
8 Golgi reassembly GO:0090168 8.96 STK25 PDCD10
9 intrinsic apoptotic signaling pathway in response to hydrogen peroxide GO:0036481 8.62 STK25 PDCD10

Sources for Cavernous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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