Aliases & Classifications for Cavernous Malformation

MalaCards integrated aliases 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 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)
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 1 11.9
6 familial cerebral cavernous malformation 2 11.9
7 familial cerebral cavernous malformation 3 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 10.8
14 cerebritis 10.7
15 hepatosplenic t-cell lymphoma 10.3
16 myoepithelial carcinoma 10.2 CCM2 KRIT1
17 endotheliitis 10.1
18 epilepsy 10.1
19 arteriovenous malformation 9.9
20 hypoplastic left heart syndrome 9.9 CCM2 KRIT1 PDCD10
21 hemangioma 9.9
22 siderosis 9.9
23 superficial siderosis 9.9
24 pilomyxoid astrocytoma 9.8 CCM2 KRIT1 PDCD10
25 trigeminal neuralgia 9.8
26 cervicitis 9.8
27 miyoshi muscular dystrophy 2 9.7 CCM2 KRIT1 PDCD10
28 trigonitis 9.7
29 melanoma 9.7
30 astrocytoma 9.7
31 retinitis 9.7
32 neuronitis 9.7
33 glioma 9.7
34 hypertrophic olivary degeneration 9.7
35 phace syndrome 9.7
36 vascular malformation 9.7
37 aneurysm 9.7
38 renal cell carcinoma 9.6
39 klippel-trenaunay-weber syndrome 9.6
40 medulloblastoma 9.6
41 obsessive-compulsive disorder 9.6
42 wilson disease 9.6
43 moyamoya disease 9.6
44 choroid plexus papilloma 9.6
45 chiari malformation type i 9.6
46 poland syndrome 9.6
47 acute lymphocytic leukemia 9.6
48 arteriovenous fistula 9.6
49 hepatitis 9.6
50 leukemia 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ITGB1 PTEN KRIT1 CCM2 MAP3K3 CCM2L
2 growth/size/body region MP:0005378 10.01 PDCD10 ITGB1 ITGB1BP1 PTEN KRIT1 CCM2
3 embryo MP:0005380 9.98 ITGB1 PTEN KRIT1 CCM2 MAP3K3 PDCD10
4 mortality/aging MP:0010768 9.97 PDCD10 ITGB1 ITGB1BP1 PTEN KRIT1 CCM2
5 muscle MP:0005369 9.8 ITGB1 PTEN KRIT1 CCM2 MAP3K3 CCM2L
6 integument MP:0010771 9.77 PDCD10 ITGB1 KRIT1 CCM2 PTEN
7 neoplasm MP:0002006 9.55 PDCD10 ITGB1 PTEN KRIT1 CCM2L
8 normal MP:0002873 9.43 PDCD10 ITGB1 ITGB1BP1 PTEN CCM2 CCM2L
9 vision/eye MP:0005391 9.1 PDCD10 ITGB1 ITGB1BP1 PTEN KRIT1 CCM2

Drugs & Therapeutics for Cavernous Malformation

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

(show all 16)
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 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:


id 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:

39
Brain, Spinal Cord, Endothelial, Thalamus, Skin, Testes, Heart

Publications for Cavernous Malformation

Articles related to Cavernous Malformation:

(show top 50) (show all 448)
id Title Authors Year
1
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
2
Reliable? The Value of Early Postoperative Magnetic Resonance Imaging after Cerebral Cavernous Malformation Surgery. ( 28391022 )
2017
3
Intradural extramedullary cavernous malformation with extensive superficial siderosis of the neuraxis: Case report and review of literature. ( 28680728 )
2017
4
PHACE syndrome and cerebral cavernous malformations: association or simply microhemorrhages? ( 28623519 )
2017
5
Cavernous Malformation Associated With Arterialized Developmental Venous Anomaly: A Case Report. ( 28402473 )
2017
6
Postnatal delayed exacerbation of dural sinus malformation associated with brainstem cavernous malformations: A case report. ( 28728536 )
2017
7
Pediatric cerebellar giant cavernous malformation: case report and review of literature. ( 28744689 )
2017
8
A case of a cerebral cavernous malformation of the third ventricle that caused the syndrome of inappropriate secretion of antidiuretic hormone. ( 28540119 )
2017
9
High-energy Trauma Precipitating Intramedullary Cavernous Malformation Hemorrhage - A Possible Underreported Mechanism. ( 28413738 )
2017
10
Pregnancy Combined with Epilepsy and Cerebral Cavernous Malformation. ( 28229997 )
2017
11
A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family. ( 28160210 )
2017
12
Genetically diagnosed Birt-Hogg-DubAc syndrome and familial cerebral cavernous malformations in the same individual: a case report. ( 27722904 )
2017
13
Medullary cavernous malformation as a cause of isolated acute vestibular syndrome. ( 28155027 )
2017
14
Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition. ( 28318403 )
2017
15
A rare association of ganglioglioma and cavernous malformation: Report of two cases and literature review. ( 28607828 )
2017
16
The efficacy of resection of an intradural extramedullary foramen magnum cavernous malformation presenting with repeated subarachnoid hemorrhage: a case report. ( 28274277 )
2017
17
Transcallosal-transchoroidal Fissure Approach for Resection of Third Ventricle Cavernous Malformation: 3-Dimensional Operative Video. ( 28521358 )
2017
18
Intraventricular Cavernous Malformation: Review of the Literature and Report of Three Cases with Neuroendoscopic Resection. ( 28068754 )
2017
19
Optochiasmatic cavernous malformation: a rare cause of acute vision loss. ( 28658413 )
2017
20
Cerebral Cavernous Malformation: When the Key to Diagnosis Is on the Skin. ( 28388986 )
2017
21
Clinical outcome following medical treatment of cavernous malformation related epilepsy. ( 27936450 )
2017
22
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations. ( 28000143 )
2017
23
Long-term outcomes of surgical treatment in181 patients with supratentorial cerebral cavernous malformation-associated epilepsy. ( 28844916 )
2017
24
Ascending Spinal Cord Infarction Secondary to Recurrent Spinal Cord Cavernous Malformation Hemorrhage. ( 28236596 )
2017
25
Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis. ( 28602929 )
2017
26
A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study. ( 28255959 )
2017
27
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. ( 27737651 )
2016
28
Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity? ( 26743915 )
2016
29
Erratum: Endothelial exocytosis of angiopoietin-2 resulting from CCM3 deficiency contributes to cerebral cavernous malformation. ( 27923033 )
2016
30
Introduction to Cerebral Cavernous Malformation: a brief review. ( 26923303 )
2016
31
Giant cavernous malformation in the ventrolateral midbrain with extension into the thalamus: a case report of a paramedian supracerebellar transtentorial approach. ( 27328840 )
2016
32
Peripheral plasma vitamin D and non-HDL cholesterol reflect the severity of cerebral cavernous malformation disease. ( 26861901 )
2016
33
Outcome after conservative management or surgical treatment for new-onset epilepsy in cerebral cavernous malformation. ( 27367244 )
2016
34
Endothelial Cells Lining Sporadic Cerebral Cavernous Malformation Cavernomas Undergo Endothelial-to-Mesenchymal Transition. ( 26839352 )
2016
35
Cavernous malformation in the conus medullaris: A rare report. ( 27381145 )
2016
36
Metastatic renal cell carcinoma metastasising into a cerebral cavernous malformation. ( 27566437 )
2016
37
Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling. ( 27027284 )
2016
38
Psammomatous Cavernous Malformation Presenting as Drug-Resistant Epilepsy: Case Illustration and Review of Literature. ( 27283183 )
2016
39
Dysregulated exocytosis of angiopoietin-2 drives cerebral cavernous malformation. ( 27603130 )
2016
40
Cerebral cavernous malformation in a woman presenting with hemichorea: Response to haloperidol. ( 26964513 )
2016
41
Hyper-vascular giant cavernous malformation in a child: a case report and review. ( 27585994 )
2016
42
Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1. ( 26795600 )
2016
43
Hyperintense perilesional edema in the brain on T1-weighted images: Cavernous malformation or metastatic melanoma? Three case reports and literature review. ( 26838172 )
2016
44
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene. ( 27462358 )
2016
45
Endothelial exocytosis of angiopoietin-2 resulting from CCM3 deficiency contributes to cerebral cavernous malformation. ( 27548575 )
2016
46
Treatment of Nystagmus in Brainstem Cavernous Malformation with Botulinum Toxin. ( 27182467 )
2016
47
A giant frontal cavernous malformation with review of literature. ( 27114662 )
2016
48
PHACE syndrome is associated with intracranial cavernous malformations. ( 27125518 )
2016
49
Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation. ( 27790124 )
2016
50
Beyond multiple mechanisms and a unique drug: Defective autophagy as pivotal player in cerebral cavernous malformation pathogenesis and implications for targeted therapies. ( 27141412 )
2016

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)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 ITGB1 MAP3K3 PTEN PXN
2
Show member pathways
12.44 ITGB1 MAP3K3 PTEN PXN
3
Show member pathways
12.28 ITGB1 ITGB1BP1 MAP3K3 PXN
4
Show member pathways
12.15 ITGB1 PTEN PXN
5
Show member pathways
12.15 ITGB1 MAP3K3 PTEN PXN
6
Show member pathways
11.94 ITGB1 MAP3K3 PTEN PXN
7
Show member pathways
11.75 ITGB1 PTEN PXN
8 11.3 ITGB1 PXN
9 11.27 ITGB1 PXN
10 11.15 ITGB1 PXN
11
Show member pathways
11.14 ITGB1 PXN
12
Show member pathways
11.14 ITGB1 ITGB1BP1 PTEN PXN
13 10.97 ITGB1 PTEN
14 10.92 CCM2 MAP3K3
15 10.84 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 9.56 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)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.67 ITGB1 ITGB1BP1 PDCD10 PTEN
2 angiogenesis GO:0001525 9.65 KRIT1 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 Notch signaling pathway GO:0045747 9.49 ITGB1BP1 PDCD10
7 cardiac muscle tissue development GO:0048738 9.4 ITGB1 PTEN
8 negative regulation of focal adhesion assembly GO:0051895 9.32 ITGB1BP1 PTEN
9 stress fiber assembly GO:0043149 9.26 ITGB1 PDCD10
10 positive regulation of stress fiber assembly GO:0051496 9.21 ITGB1BP1
11 endothelial cell migration GO:0043542 9.16 PTEN
12 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.16 ITGB1BP1 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:

id 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
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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