Aliases & Classifications for Cavernous Malformation

MalaCards integrated aliases for Cavernous Malformation:

Name: Cavernous Malformation 50

Summaries for Cavernous Malformation

NINDS : 50 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 cerebral cavernous malformations 2. An important gene associated with Cavernous Malformation is CCM2 (CCM2 Scaffolding Protein), and among its related pathways/superpathways are Integrin Pathway and Sertoli-Sertoli Cell Junction Dynamics. The drugs Hydroxymethylglutaryl-CoA Reductase Inhibitors and Anticholesteremic 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 84)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 3 32.6 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10
2 cerebral cavernous malformations 2 32.6 CCM2 CCM2L KRIT1 MAP3K3 PDCD10
3 cavernous hemangioma 32.1 CCM2 KRIT1
4 cerebral cavernous malformations 31.6 CCM2 CCM2L ITGB1BP1 KRIT1 MAP3K3 PDCD10
5 venous malformations, multiple cutaneous and mucosal 30.4 CCM2 KRIT1 PDCD10 PTEN
6 klippel-trenaunay-weber syndrome 29.4 CCM2 KRIT1 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 10.8
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 meningioma, familial 9.9
19 hemangioma 9.9
20 human venous malformation 9.9 CCM2 KRIT1 PDCD10
21 trigeminal neuralgia 9.9
22 cervicitis 9.9
23 vascular hemostatic disease 9.9 CCM2 KRIT1 PDCD10
24 glioma 9.8
25 retinitis 9.8
26 hypertrophic olivary degeneration 9.8
27 phace syndrome 9.8
28 glass syndrome 9.8
29 trigonitis 9.8
30 aneurysm 9.8
31 hydrops, lactic acidosis, and sideroblastic anemia 9.8
32 melanoma 9.8
33 neuronitis 9.8
34 astrocytoma 9.8
35 cell type benign neoplasm 9.7 CCM2 KRIT1 PDCD10
36 aging 9.6
37 portal hypertension 9.6
38 oligodendroglioma 9.6
39 glioblastoma 9.6
40 abducens nerve disease 9.6
41 dural sinus malformation 9.6
42 chiari malformation type i 9.6
43 choroiditis 9.6
44 mutism 9.6
45 malignant germ cell tumor 9.6
46 glioma susceptibility 1 9.6
47 optic neuritis 9.6
48 radiculopathy 9.6
49 renal cell carcinoma, nonpapillary 9.6
50 choreatic disease 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 PTEN PXN CCM2 CCM2L ITGB1 KRIT1
2 growth/size/body region MP:0005378 10.01 CCM2 ITGB1 ITGB1BP1 KRIT1 MAP3K3 PDCD10
3 embryo MP:0005380 9.98 CCM2 ITGB1 KRIT1 MAP3K3 PDCD10 PTEN
4 mortality/aging MP:0010768 9.97 CCM2 CCM2L ITGB1 ITGB1BP1 KRIT1 MAP3K3
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 CCM2L ITGB1 KRIT1 PDCD10 PTEN
8 normal MP:0002873 9.43 CCM2 CCM2L ITGB1 ITGB1BP1 PDCD10 PTEN
9 vision/eye MP:0005391 9.1 ITGB1BP1 KRIT1 PDCD10 PTEN CCM2 ITGB1

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 Anticholesteremic Agents Phase 1, Phase 2,Early Phase 1
3 Hypolipidemic Agents Phase 1, Phase 2,Early Phase 1
4 Antimetabolites Phase 1, Phase 2,Early Phase 1
5 Lipid Regulating Agents 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 Antiprotozoal Agents Phase 1
13 Antiparasitic Agents 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 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
2 Influence of MMP on Brain AVM Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
3 Genetic Disease Gene Identification Unknown status NCT00916903
4 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
5 CoHOrt of Cerebral CavernOus maLformATion: multicEnter Prospective Observational Study Recruiting NCT02946866
6 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:

38
Brain, Spinal Cord, Endothelial, Temporal Lobe, Thalamus, Pineal, Testes

Publications for Cavernous Malformation

Articles related to Cavernous Malformation:

(show top 50) (show all 478)
# Title Authors Year
1
A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation. ( 29169046 )
2018
2
Management of brothers with haemophilia A and familial cerebral cavernous malformations. ( 29418046 )
2018
3
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
4
Transcondylar approach for resection of lateral medullary cavernous malformation. ( 29086026 )
2018
5
Superficial Siderosis Associated with Pineal Cavernous Malformation. ( 29017984 )
2018
6
Dural-Based Cavernous Malformation at the Cerebral Convexity: Report of Two Pediatric Patients. ( 29331747 )
2018
7
Plasma Biomarkers of Inflammation Reflect Seizures and Hemorrhagic Activity of Cerebral Cavernous Malformations. ( 28819935 )
2018
8
Surgical Management and Long-Term Seizure Outcome After Surgery for Temporal Lobe Epilepsy Associated with Cerebral Cavernous Malformations. ( 29175574 )
2018
9
False lateralization of pre-surgical work-up in a child with a cortical cavernous malformation and intractable epilepsy. ( 29239163 )
2018
10
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing. ( 29197946 )
2018
11
Connexin 43 gap junctions contribute to brain endothelial barrier hyperpermeability in familial cerebral cavernous malformations type III by modulating tight junction structure. ( 29295866 )
2018
12
Suprasellar and third ventricular cavernous malformation: Lessons learned in differential diagnosis and surgical planning. ( 29142773 )
2017
13
Prevalence of cerebral cavernous malformations associated with developmental venous anomalies increases with age. ( 28643038 )
2017
14
Transcallosal-transchoroidal Fissure Approach for Resection of Third Ventricle Cavernous Malformation: 3-Dimensional Operative Video. ( 28521358 )
2017
15
Automated algorithm for counting microbleeds in patients with familial cerebral cavernous malformations. ( 28534135 )
2017
16
Endoscopic management of a cavernous malformation on the floor of third ventricle and aqueduct of Sylvius: Technical case report and review of the literature. ( 29026673 )
2017
17
Natural history of cerebral cavernous malformations. ( 28552144 )
2017
18
Intradural extramedullary cavernous malformation with extensive superficial siderosis of the neuraxis: Case report and review of literature. ( 28680728 )
2017
19
Resection of a Midbrain Cavernous Malformation Via Far Posterior Subtemporal Approach to the Dorsolateral Brainstem: 2-Dimensional Operative Video. ( 29281055 )
2017
20
Novel loss of function mutation in KRIT1/CCM1 is associated with distinctly progressive cerebral and spinal cavernous malformations after radiochemotherapy for intracranial malignant germ cell tumor. ( 28488085 )
2017
21
Thrombospondin1 (TSP1) replacement prevents cerebral cavernous malformations. ( 28970240 )
2017
22
Genetically diagnosed Birt-Hogg-DubAc syndrome and familial cerebral cavernous malformations in the same individual: a case report. ( 27722904 )
2017
23
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations. ( 28000143 )
2017
24
A rare association of ganglioglioma and cavernous malformation: Report of two cases and literature review. ( 28607828 )
2017
25
Cavernous Malformation Associated With Arterialized Developmental Venous Anomaly: A Case Report. ( 28402473 )
2017
26
Quantitative susceptibility mapping as a monitoring biomarker in cerebral cavernous malformations with recent hemorrhage. ( 28791783 )
2017
27
Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model. ( 28892037 )
2017
28
Clinical outcome following medical treatment of cavernous malformation related epilepsy. ( 27936450 )
2017
29
A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family. ( 28160210 )
2017
30
High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations. ( 28645800 )
2017
31
Far Lateral Transcondylar Approach for Pontomedullary Cavernous Malformation: 3-Dimensional Video. ( 28962034 )
2017
32
Reliable? The Value of Early Postoperative Magnetic Resonance Imaging after Cerebral Cavernous Malformation Surgery. ( 28391022 )
2017
33
Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis. ( 28602929 )
2017
34
PHACE syndrome and cerebral cavernous malformations: association or simply microhemorrhages? ( 28623519 )
2017
35
Ascending Spinal Cord Infarction Secondary to Recurrent Spinal Cord Cavernous Malformation Hemorrhage. ( 28236596 )
2017
36
Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition. ( 28318403 )
2017
37
Long-term outcomes of surgical treatment in181 patients with supratentorial cerebral cavernous malformation-associated epilepsy. ( 28844916 )
2017
38
Cerebral Cavernous Malformations. ( 28679101 )
2017
39
A case of a cerebral cavernous malformation of the third ventricle that caused the syndrome of inappropriate secretion of antidiuretic hormone. ( 28540119 )
2017
40
Cerebral Cavernous Malformations: Patient-Reported Outcome Validates Conservative Management. ( 28968597 )
2017
41
Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family. ( 29145060 )
2017
42
Corrigendum: Cerebral Cavernous Malformations: Review of the Genetic and Protein-Protein Interactions Resulting in Disease Pathogenesis. ( 28721350 )
2017
43
Medullary cavernous malformation as a cause of isolated acute vestibular syndrome. ( 28155027 )
2017
44
Gut Microbiome and Endothelial TLR4 Activation Provoke Cerebral Cavernous Malformations. ( 29088464 )
2017
45
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations. ( 28870584 )
2017
46
Multiple sporadic cerebral cavernous malformations. ( 29236895 )
2017
47
Cerebral Cavernous Malformation: When the Key to Diagnosis Is on the Skin. ( 28388986 )
2017
48
The efficacy of resection of an intradural extramedullary foramen magnum cavernous malformation presenting with repeated subarachnoid hemorrhage: a case report. ( 28274277 )
2017
49
Cerebrovascular malformations: Microbiota promotes cerebral cavernous malformations. ( 28548106 )
2017
50
Pediatric cerebellar giant cavernous malformation: case report and review of literature. ( 28744689 )
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:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 ITGB1 MAP3K3 PTEN PXN
2
Show member pathways
12.52 ITGB1 MAP3K3 PTEN PXN
3
Show member pathways
12.44 ITGB1 MAP3K3 PTEN PXN
4
Show member pathways
12.27 ITGB1 ITGB1BP1 MAP3K3 PXN
5
Show member pathways
12.15 ITGB1 PTEN PXN
6
Show member pathways
12.09 ITGB1 MAP3K3 PTEN PXN
7
Show member pathways
11.84 ITGB1 MAP3K3 PTEN PXN
8
Show member pathways
11.75 ITGB1 PTEN PXN
9 11.3 ITGB1 PXN
10 11.27 ITGB1 PXN
11 11.15 ITGB1 PXN
12
Show member pathways
11.14 ITGB1 PXN
13
Show member pathways
11.11 ITGB1 ITGB1BP1 PTEN PXN
14 10.97 ITGB1 PTEN
15 10.92 CCM2 MAP3K3
16 10.84 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 cytoplasm GO:0005737 9.56 CCM2 ITGB1 ITGB1BP1 KRIT1 MAP3K3 PDCD10
2 lamellipodium GO:0030027 8.8 ITGB1 ITGB1BP1 PXN

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.65 KRIT1 PDCD10 PTEN
2 positive regulation of cell proliferation GO:0008284 9.62 ITGB1 ITGB1BP1 PDCD10 PTEN
3 cell migration GO:0016477 9.61 ITGB1 ITGB1BP1 PTEN
4 negative regulation of protein binding GO:0032091 9.54 CCM2L ITGB1BP1
5 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.52 ITGB1BP1 PTEN
6 positive regulation of stress fiber assembly GO:0051496 9.51 ITGB1BP1 PXN
7 positive regulation of Notch signaling pathway GO:0045747 9.49 ITGB1BP1 PDCD10
8 endothelial cell migration GO:0043542 9.46 PTEN PXN
9 cardiac muscle tissue development GO:0048738 9.4 ITGB1 PTEN
10 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.37 ITGB1BP1 PDCD10
11 negative regulation of focal adhesion assembly GO:0051895 9.26 ITGB1BP1 PTEN
12 stress fiber assembly GO:0043149 9.16 ITGB1 PDCD10
13 cell-matrix adhesion GO:0007160 9.13 ITGB1 ITGB1BP1 PXN
14 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 kinase binding GO:0019901 9.46 ITGB1BP1 PDCD10 PTEN PXN
2 integrin binding GO:0005178 9.13 ITGB1 ITGB1BP1 PXN
3 protein complex binding GO:0032403 8.92 ITGB1 ITGB1BP1 KRIT1 PXN

Sources for Cavernous Malformation

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