Aliases & Classifications for Cavernous Malformation

MalaCards integrated aliases for Cavernous Malformation:

Name: Cavernous Malformation 54

Summaries for Cavernous Malformation

NINDS : 54 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 cavernous hemangioma. An important gene associated with Cavernous Malformation is CCM2 (CCM2 Scaffold Protein), and among its related pathways/superpathways are AKT Signaling Pathway and Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling. 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 cardiovascular system and growth/size/body region

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 85)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 2 31.8 CCM2 CCM2L KRIT1 MAP3K3 PDCD10
2 cavernous hemangioma 31.8 CCM2 KRIT1 PDCD10
3 cerebral cavernous malformations 3 31.7 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10
4 venous malformations, multiple cutaneous and mucosal 29.8 CCM2 KRIT1 PDCD10 PTEN
5 klippel-trenaunay-weber syndrome 29.3 CCM2 KRIT1 PDCD10
6 cerebral cavernous malformations 29.1 CCM2 CCM2L ITGB1BP1 KRIT1 MAP3K3 PDCD10
7 congenital vascular cavernous malformations 12.3
8 cerebral cavernous malformation, familial 12.2
9 familial hemangioma 11.1
10 vascular erectile tumor 11.1
11 cerebritis 10.9
12 hepatosplenic t-cell lymphoma 10.4
13 endotheliitis 10.2
14 epilepsy 10.2
15 arteriovenous malformation 10.0
16 siderosis 10.0
17 superficial siderosis 10.0
18 hemangioma 9.9
19 cervicitis 9.9
20 trigeminal neuralgia 9.9
21 human venous malformation 9.9 CCM2 KRIT1 PDCD10
22 neuronitis 9.9
23 vascular hemostatic disease 9.8 CCM2 KRIT1 PDCD10
24 phace syndrome 9.8
25 melanoma 9.8
26 aneurysm 9.8
27 astrocytoma 9.8
28 retinitis 9.8
29 trigonitis 9.8
30 glioma 9.8
31 hypertrophic olivary degeneration 9.8
32 arteriovenous malformations of the brain 9.6
33 neuritis 9.6
34 angiokeratoma 9.6
35 malignant germ cell tumor 9.6
36 acute lymphocytic leukemia 9.6
37 status epilepticus 9.6
38 chiari malformation type i 9.6
39 arteriovenous fistula 9.6
40 ganglioglioma 9.6
41 weber syndrome 9.6
42 glioma susceptibility 1 9.6
43 kidney disease 9.6
44 renal cell carcinoma, nonpapillary 9.6
45 hepatitis 9.6
46 focal epilepsy 9.6
47 astroblastoma 9.6
48 angiomatosis 9.6
49 leukemia 9.6
50 medulloblastoma 9.6

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 CCM2 CCM2L ITGB1 KRIT1 MAP3K3 PDCD10
2 growth/size/body region MP:0005378 9.95 CCM2 ITGB1 ITGB1BP1 KRIT1 MAP3K3 PDCD10
3 mortality/aging MP:0010768 9.92 CCM2 CCM2L ITGB1 ITGB1BP1 KRIT1 MAP3K3
4 embryo MP:0005380 9.91 CCM2 ITGB1 KRIT1 MAP3K3 PDCD10 PTEN
5 muscle MP:0005369 9.8 CCM2 CCM2L ITGB1 KRIT1 MAP3K3 PDCD10
6 integument MP:0010771 9.77 CCM2 ITGB1 KRIT1 PDCD10 PTEN
7 neoplasm MP:0002006 9.55 ITGB1 KRIT1 PDCD10 PTEN CCM2L
8 normal MP:0002873 9.43 CCM2 CCM2L ITGB1 ITGB1BP1 PDCD10 PTEN
9 vision/eye MP:0005391 9.1 CCM2 ITGB1 ITGB1BP1 KRIT1 PDCD10 PTEN

Drugs & Therapeutics for Cavernous Malformation

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

(show all 16)
# 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 Antiparasitic Agents Phase 1
12 Antiprotozoal Agents Phase 1
13 Antimalarials Phase 1
14
Simvastatin Approved Early Phase 1 79902-63-9 54454
15 Neuroserpin
16 Astragalus Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Oral Propranolol on mRNA Expresssion in Symptomatic Cavernous Malformation Recruiting NCT03474614 Phase 2 Propranolol
2 Atorvastatin Treatment of Cavernous Angiomas With Symptomatic Hemorrhage Exploratory Proof of Concept (AT CASH EPOC) Trial Not yet recruiting NCT02603328 Phase 1, Phase 2 Atorvastatin
3 Influence of MMP on Brain AVM Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
4 Oral Propanolol for Surgically Inaccessible Cavernous Malformations Enrolling by invitation NCT03523650 Phase 1 Propranolol Oral Tablet;Placebo Oral Tablet
5 Genetic Disease Gene Identification Unknown status NCT00916903
6 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
7 Treatments and Outcomes of Untreated Cerebral Cavernous Malformations in CHina. Recruiting NCT03467295
8 CoHOrt of Cerebral CavernOus maLformATion: multicEnter Prospective Observational Study Recruiting NCT02946866
9 Modifiers of Disease Severity in Cerebral Cavernous Malformations Recruiting NCT01764529

Search NIH Clinical Center for Cavernous Malformation

Genetic Tests for Cavernous Malformation

Anatomical Context for Cavernous Malformation

MalaCards organs/tissues related to Cavernous Malformation:

41
Brain, Spinal Cord, Endothelial, Temporal Lobe, Thalamus, Pineal, Testes

Publications for Cavernous Malformation

Articles related to Cavernous Malformation:

(show top 50) (show all 524)
# Title Authors Year
1
Management of brothers with haemophilia A and familial cerebral cavernous malformations. ( 29418046 )
2018
2
Cavernous malformation induced by stereotactic radiosurgery: A report and literature review. ( 29547177 )
2018
3
Antithrombotic medication and bleeding risk in patients with cerebral cavernous malformations: a cohort study. ( 29882707 )
2018
4
A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation. ( 29887830 )
2018
5
Intensive, functional training leads to optimal outcomes in a young woman post brain stem hemorrhage due to cerebral cavernous malformation. ( 29979899 )
2018
6
Plasma Biomarkers of Inflammation and Angiogenesis Predict Cerebral Cavernous Malformation Symptomatic Hemorrhage or Lesional Growth. ( 29720384 )
2018
7
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing. ( 29197946 )
2018
8
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
9
Transsylvian Transuncal Approach for an Anterior Midbrain Cavernous Malformation Resection: A Case Report. ( 29462451 )
2018
10
Repeat Radiosurgical Treatment after Cavernous Malformation Radiosurgery. ( 29969736 )
2018
11
Amide Proton Transfer Imaging of Cavernous Malformation in the Cavernous Sinus. ( 29540619 )
2018
12
Radiation-induced Cavernous Malformation as a Late Sequelae of Stereotactic Radiosurgery for Epilepsy. ( 29755904 )
2018
13
Superficial Siderosis Associated with Pineal Cavernous Malformation. ( 29017984 )
2018
14
Transsylvian-Transinsular Approach for an Insular Cavernous Malformation Resection: 3-Dimensional Operative Video. ( 29905877 )
2018
15
Surgical Management and Long-Term Seizure Outcome After Surgery for Temporal Lobe Epilepsy Associated with Cerebral Cavernous Malformations. ( 29175574 )
2018
16
Long-Term Outcome of Gamma Knife Radiosurgery for Symptomatic Brainstem Cavernous Malformation. ( 29864574 )
2018
17
Dural-Based Cavernous Malformation at the Cerebral Convexity: Report of Two Pediatric Patients. ( 29331747 )
2018
18
Cystic Progression of a Cavernous Malformation at the Level of the Trigeminal Root Entry Zone Presenting With Sudden Onset of Trigeminal Neuralgia. ( 29570519 )
2018
19
Transcondylar approach for resection of lateral medullary cavernous malformation. ( 29086026 )
2018
20
Phenotypic characterization of murine models of cerebral cavernous malformations. ( 29946133 )
2018
21
Surgical Treatment and Long-Term Outcome of Cerebral Cavernous Malformations-Related Epilepsy in Pediatric Patients. ( 29677701 )
2018
22
Letter to the Editor Regarding "Long-Term Outcomes of Surgical Treatment in 181 Patients with Supratentorial Cerebral Cavernous Malformation-Associated Epilepsy". ( 29499589 )
2018
23
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
24
Connexin 43 gap junctions contribute to brain endothelial barrier hyperpermeability in familial cerebral cavernous malformations type III by modulating tight junction structure. ( 29295866 )
2018
25
Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan. ( 29787619 )
2018
26
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling. ( 29593473 )
2018
27
Interhemispheric, Translamina Terminalis Approach for the Resection of Suprasellar Cavernous Malformation. ( 29588900 )
2018
28
C5-C6 Cervical Spinal Cord Cavernous Malformation Microsurgical Resection: 2-Dimensional Operative Video. ( 29635403 )
2018
29
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
30
Bleeding risk of cerebral cavernous malformations in patients on I^-blocker medication: a cohort study. ( 29905510 )
2018
31
False lateralization of pre-surgical work-up in a child with a cortical cavernous malformation and intractable epilepsy. ( 29239163 )
2018
32
Occipital Neuralgia from C2 Cavernous Malformation. ( 29682056 )
2018
33
Plasma Biomarkers of Inflammation Reflect Seizures and Hemorrhagic Activity of Cerebral Cavernous Malformations. ( 28819935 )
2018
34
A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation. ( 29169046 )
2018
35
Endoscopic Resection of Hemorrhaged Third Ventricle Cavernous Malformation: 2-Dimensional Operative Video. ( 29920585 )
2018
36
Craniotomy for a large and aggressive de novo cavernous malformation resection in the basal ganglia region. ( 29929034 )
2018
37
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations. ( 28000143 )
2017
38
Pregnancy Combined with Epilepsy and Cerebral Cavernous Malformation. ( 28229997 )
2017
39
Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI. ( 27153162 )
2017
40
Far Lateral Transcondylar Approach for Pontomedullary Cavernous Malformation: 3-Dimensional Video. ( 28962034 )
2017
41
Quantitative susceptibility mapping as a monitoring biomarker in cerebral cavernous malformations with recent hemorrhage. ( 28791783 )
2017
42
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations. ( 28870584 )
2017
43
Gut Microbiome and Endothelial TLR4 Activation Provoke Cerebral Cavernous Malformations. ( 29088464 )
2017
44
Intradural extramedullary cavernous malformation with extensive superficial siderosis of the neuraxis: Case report and review of literature. ( 28680728 )
2017
45
Genetically diagnosed Birt-Hogg-DubAc syndrome and familial cerebral cavernous malformations in the same individual: a case report. ( 27722904 )
2017
46
Ascending Spinal Cord Infarction Secondary to Recurrent Spinal Cord Cavernous Malformation Hemorrhage. ( 28236596 )
2017
47
Suprasellar and third ventricular cavernous malformation: Lessons learned in differential diagnosis and surgical planning. ( 29142773 )
2017
48
High-energy Trauma Precipitating Intramedullary Cavernous Malformation Hemorrhage - A Possible Underreported Mechanism. ( 28413738 )
2017
49
A case of a cerebral cavernous malformation of the third ventricle that caused the syndrome of inappropriate secretion of antidiuretic hormone. ( 28540119 )
2017
50
Reliable? The Value of Early Postoperative Magnetic Resonance Imaging after Cerebral Cavernous Malformation Surgery. ( 28391022 )
2017

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:

# Super pathways Score Top Affiliating Genes
1 11.49 ITGB1 ITGB1BP1 PTEN
2 10.75 ITGB1 PTEN
3 10.42 CCM2 MAP3K3
4 10.05 CCM2 MAP3K3

GO Terms for Cavernous Malformation

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.58 KRIT1 PDCD10 PTEN
2 positive regulation of cell proliferation GO:0008284 9.56 ITGB1 ITGB1BP1 PDCD10 PTEN
3 cell migration GO:0016477 9.54 ITGB1 ITGB1BP1 PTEN
4 negative regulation of protein binding GO:0032091 9.49 CCM2L ITGB1BP1
5 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.48 ITGB1BP1 PTEN
6 positive regulation of Notch signaling pathway GO:0045747 9.46 ITGB1BP1 PDCD10
7 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.43 ITGB1BP1 PDCD10
8 cardiac muscle tissue development GO:0048738 9.32 ITGB1 PTEN
9 negative regulation of focal adhesion assembly GO:0051895 9.16 ITGB1BP1 PTEN
10 stress fiber assembly GO:0043149 8.96 ITGB1 PDCD10
11 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 protein-containing complex binding GO:0044877 8.8 ITGB1 ITGB1BP1 KRIT1

Sources for Cavernous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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