MCID: CVR010
MIFTS: 37

Cavernous Malformation malady

Aliases & Classifications for Cavernous Malformation

About this section

Aliases & Descriptions for Cavernous Malformation:

Name: Cavernous Malformation 49

Summaries for Cavernous Malformation

About this section
NINDS:49 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 are Regulation of p38-alpha and p38-beta and p38 MAPK signaling pathway (Pathway Interaction Database). Affiliated tissues include brain, spinal cord and endothelial, and related mouse phenotypes are Increased cell death HMECs cells and craniofacial.

Related Diseases for Cavernous Malformation

About this section

Diseases related to Cavernous Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformations 312.4
2congenital vascular cavernous malformations12.1
3cerebral cavernous malformation, familial12.1
4cerebral cavernous malformations-112.0
5familial cerebral cavernous malformation 211.9
6familial cerebral cavernous malformation 311.9
7familial cerebral cavernous malformation 111.9
8familial cerebral cavernous malformation 411.9
9cerebral cavernous malformations-211.7
10cavernous hemangioma11.4
11familial hemangioma11.0
12vascular erectile tumor11.0
13venous malformations, multiple cutaneous and mucosal10.9
14cerebritis10.7
15hepatosplenic t-cell lymphoma10.3
16endotheliitis10.1
17epilepsy10.0
18charcot-marie-tooth neuropathy type 110.0CCM2, KRIT1, PDCD10
19arteriovenous malformation10.0
20benign ependymoma9.9CCM2, KRIT1, PDCD10
21miyoshi muscular dystrophy 29.9CCM2, KRIT1, PDCD10
22hemangioma9.9
23thyrotoxic periodic paralysis 29.9CTNNB1, PTEN
24melanotic medulloblastoma9.8CTNNB1, PTEN
25nodular degeneration of cornea9.8CTNNB1, PTEN
26trigeminal neuralgia9.8
27siderosis9.8
28cervicitis9.8
29superficial siderosis9.8
30mismatch repair cancer syndrome9.7CTNNB1, PTEN
31trigonitis9.7
32astrocytoma9.7
33retinitis9.7
34neuronitis9.7
35glioma9.7
36vascular malformation9.7
37aneurysm9.7
38greig cephalopolysyndactyly syndrome9.7CCM2, CCM2L, KRIT1, PDCD10
39medulloblastoma9.6
40renal cell carcinoma9.6
41klippel-trenaunay-weber syndrome9.6
42obsessive-compulsive disorder9.6
43choroid plexus papilloma9.6
44moyamoya disease9.6
45chiari malformation type i9.6
46poland syndrome9.6
47acute lymphocytic leukemia9.6
48arteriovenous fistula9.6
49hepatitis9.6
50leukemia9.6

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



Diseases related to cavernous malformation

Symptoms & Phenotypes for Cavernous Malformation

About this section

GenomeRNAi Phenotypes related to Cavernous Malformation according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00103-A-09.0CTNNB1, MAP3K3, PDCD10, PTEN

MGI Mouse Phenotypes related to Cavernous Malformation according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0CCM2, CTNNB1, ITGB1, ITGB1BP1, KRIT1
2MP:00107718.5CCM2, CTNNB1, ITGB1, KRIT1, PDCD10, PTEN
3MP:00020068.5CCM2L, CTNNB1, ITGB1, KRIT1, PDCD10, PTEN
4MP:00053978.1CCM2, CTNNB1, ITGB1, MAP3K3, PDCD10, PTEN
5MP:00028738.0CCM2, CCM2L, CTNNB1, ITGB1, ITGB1BP1, PDCD10
6MP:00053807.7CCM2, CTNNB1, ITGB1, KRIT1, MAP3K3, PDCD10
7MP:00053857.4CCM2, CCM2L, CTNNB1, ITGB1, KRIT1, MAP3K3
8MP:00053697.3CCM2, CCM2L, CTNNB1, ITGB1, KRIT1, MAP3K3
9MP:00053787.3CCM2, CTNNB1, ITGB1, ITGB1BP1, KRIT1, MAP3K3
10MP:00053917.2CCM2, CTNNB1, ITGB1, ITGB1BP1, KRIT1, PDCD10
11MP:00107686.9CCM2, CCM2L, CTNNB1, ITGB1, ITGB1BP1, KRIT1

Drugs & Therapeutics for Cavernous Malformation

About this section

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

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Lipid Regulating AgentsPhase 1, Phase 2, Early Phase 12702
2Anticholesteremic AgentsPhase 1, Phase 2, Early Phase 11983
3Hypolipidemic AgentsPhase 1, Phase 2, Early Phase 12721
4Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 2, Early Phase 11956
5AntimetabolitesPhase 1, Phase 2, Early Phase 111774
6Atorvastatin CalciumPhase 1, Phase 2743134523-03-8
7Calcium, DietaryPhase 1, Phase 25525
8
Doxycyclineapproved, investigational, vet_approvedPhase 1237564-25-054671203
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
5-hydroxy-╬▒-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6alpha-deoxy-5-oxytetracycline
6╬▒-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Alti-Doxycycline
Anhydrous doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline (200mg/day) or Placebo
 
Doxycycline (INN)
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline
9Antiprotozoal AgentsPhase 11986
10Antiparasitic AgentsPhase 12127
11Anti-Infective AgentsPhase 121402
12Anti-Bacterial AgentsPhase 110884
13AntimalarialsPhase 11216
14
SimvastatinapprovedEarly Phase 151079902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
15Neuroserpin3
16
Cobalt1657440-48-4104729
Synonyms:
Aquacat
Co
 
Cobalt-59
Cobatope-57
Kobalt
Super cobalt
17AstragalusNutraceutical52

Interventional clinical trials:

idNameStatusNCT IDPhase
1Intracavernous Bone Marrow Stem-cell Injection for Post Prostatectomy Erectile DysfunctionCompletedNCT01089387Phase 1, Phase 2
2Atorvastatin Therapy in Cerebral Cavernous Malformation: A Proof of Concept Phase I/II TrialNot yet recruitingNCT02603328Phase 1, Phase 2
3Influence of MMP on Brain AVM HemorrhageCompletedNCT00783523Phase 1
4Genetic Disease Gene IdentificationUnknown statusNCT00916903
5Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of StatinsCompletedNCT01764451Early Phase 1
6CoHOrt of Cerebral CavernOus maLformATion: multicEnter Prospective Observational StudyRecruitingNCT02946866
7Modifiers of Disease Severity in Cerebral Cavernous MalformationsRecruitingNCT01764529
8New Covered Stent (Willis) for the Endovascular Reconstruction of Intracranial Vessel Wall Defects RegistryNot yet recruitingNCT02820779

Search NIH Clinical Center for Cavernous Malformation

Genetic Tests for Cavernous Malformation

About this section

Anatomical Context for Cavernous Malformation

About this section

MalaCards organs/tissues related to Cavernous Malformation:

36
Brain, Spinal cord, Endothelial, Bone, Bone marrow, Testes, Heart

Publications for Cavernous Malformation

About this section

Articles related to Cavernous Malformation:

(show top 50)    (show all 418)
idTitleAuthorsYear
1
Genetically diagnosed Birt-Hogg-DubAc syndrome and familial cerebral cavernous malformations in the same individual: a case report. (27722904)
2017
2
Hyperintense perilesional edema in the brain on T1-weighted images: Cavernous malformation or metastatic melanoma? Three case reports and literature review. (26838172)
2016
3
Introduction to Cerebral Cavernous Malformation: a brief review. (26923303)
2016
4
Metastatic renal cell carcinoma metastasising into a cerebral cavernous malformation. (27566437)
2016
5
Natural history of cavernous malformation: Systematic review and meta-analysis of 25 studies. (27164680)
2016
6
Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling. (27027284)
2016
7
Cavernous malformation in the conus medullaris: A rare report. (27381145)
2016
8
Systemic Expression of Vascular Endothelial Growth Factor in Patients with Cerebral Cavernous Malformation Treated by Stereotactic Radiosurgery. (27651861)
2016
9
PHACE syndrome is associated with intracranial cavernous malformations. (27125518)
2016
10
Cerebral cavernous malformation in a woman presenting with hemichorea: Response to haloperidol. (26964513)
2016
11
Endothelial exocytosis of angiopoietin-2 resulting from CCM3 deficiency contributes to cerebral cavernous malformation. (27548575)
2016
12
Oxidative stress and inflammation in cerebral cavernous malformation disease pathogenesis: Two sides of the same coin. (27639680)
2016
13
A giant frontal cavernous malformation with review of literature. (27114662)
2016
14
Hyper-vascular giant cavernous malformation in a child: a case report and review. (27585994)
2016
15
Treatment of Nystagmus in Brainstem Cavernous Malformation with Botulinum Toxin. (27182467)
2016
16
Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1. (26795600)
2016
17
Cavernous malformation of the optic chiasm: Neuro-endoscopic removal. (26889286)
2016
18
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene. (27462358)
2016
19
Dysregulated exocytosis of angiopoietin-2 drives cerebral cavernous malformation. (27603130)
2016
20
Psammomatous Cavernous Malformation Presenting as Drug-Resistant Epilepsy: Case Illustration and Review of Literature. (27283183)
2016
21
Giant cavernous malformation in the ventrolateral midbrain with extension into the thalamus: a case report of a paramedian supracerebellar transtentorial approach. (27328840)
2016
22
Beyond multiple mechanisms and a unique drug: Defective autophagy as pivotal player in cerebral cavernous malformation pathogenesis and implications for targeted therapies. (27141412)
2016
23
Endoscope-assisted supracerebellar transtentorial approach to the posterior medial temporal lobe for resection of cavernous malformation. (26722685)
2016
24
Endothelial Cells Lining Sporadic Cerebral Cavernous Malformation Cavernomas Undergo Endothelial-to-Mesenchymal Transition. (26839352)
2016
25
Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population. (27649701)
2016
26
Peripheral plasma vitamin D and non-HDL cholesterol reflect the severity of cerebral cavernous malformation disease. (26861901)
2016
27
Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity? (26743915)
2016
28
Cavernous malformation of the seventh cranial nerve- case report and review of literature. (27155386)
2016
29
The relation between angioarchitectural factors of developmental venous anomaly and concomitant sporadic cavernous malformation. (27660100)
2016
30
DeA novo formation of cerebral cavernous malformation adjacent to existing developmental venous anomaly - an effect of change in venous pressure associated with management of a complex dural arterio-venous fistula. (27562580)
2016
31
Outcome after conservative management or surgical treatment for new-onset epilepsy in cerebral cavernous malformation. (27367244)
2016
32
The anterior interhemispheric approach to a third ventricular cavernous malformation. (26722693)
2016
33
Extradural spinal cavernous malformation presenting with radiculopathy. (26386177)
2015
34
PDCD10 (CCM3) regulates brain endothelial barrier integrity in cerebral cavernous malformation type 3: role of CCM3-ERK1/2-cortactin cross-talk. (26385474)
2015
35
The cerebral cavernous malformation 3 gene is necessary for senescence induction. (25655101)
2015
36
Long-Term Outcome of Endonasal Transsphenoidal Approach for the Treatment of Pontine Cavernous Malformation: Case Report with 11 Years of Follow-Up. (26008953)
2015
37
The cerebral cavernous malformations proteins. (26356566)
2015
38
Cerebral Cavernous Malformation (CCM) disease: from monogenic forms to genetic susceptibility factors. (25896717)
2015
39
GLYOXALASE I A111E, PARAOXONASE 1 Q192R AND L55M POLYMORPHISMS IN ITALIAN PATIENTS WITH SPORADIC CEREBRAL CAVERNOUS MALFORMATIONS: A PILOT STUDY. (26122242)
2015
40
Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations. (25525273)
2015
41
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations. (26115622)
2015
42
Structural Insights into the Molecular Recognition between Cerebral Cavernous Malformation 2 and Mitogen-Activated Protein Kinase Kinase Kinase 3. (25982527)
2015
43
Intraventricular foramen of Monro cavernous malformation. (26113004)
2015
44
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene. (26246098)
2015
45
Cerebellar cavernous malformation in pediatric patients: defining clinical, neuroimaging, and therapeutic characteristics. (26053436)
2015
46
Strategy for identifying repurposed drugs for the treatment of cerebral cavernous malformation. (25486933)
2015
47
Higher Rate of Intracerebral Hemorrhage in Hispanic Patients with Cerebral Cavernous Malformation. (26600922)
2015
48
Cavernous malformation of the optic chiasm: An uncommon location. (25949848)
2015
49
Unusual Presentation of Cerebral Cavernous Malformation. (26523262)
2015
50
Cavernous Malformation in the Trigeminal Distribution. Aggressive Presentation and Management: Case Report. (26548819)
2015

Variations for Cavernous Malformation

About this section

Expression for genes affiliated with Cavernous Malformation

About this section
Search GEO for disease gene expression data for Cavernous Malformation.

Pathways for genes affiliated with Cavernous Malformation

About this section

Pathways related to Cavernous Malformation according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3CCM2, MAP3K3
2
Show member pathways
9.3CCM2, MAP3K3
39.3CTNNB1, ITGB1
49.3CTNNB1, ITGB1
5
Show member pathways
8.8CTNNB1, ITGB1, PTEN
6
Show member pathways
8.0CTNNB1, ITGB1, MAP3K3, PTEN
7
Show member pathways
8.0CTNNB1, ITGB1, MAP3K3, PTEN
8
Show member pathways
8.0CTNNB1, ITGB1, MAP3K3, PTEN
9
Show member pathways
8.0CTNNB1, ITGB1, MAP3K3, PTEN

GO Terms for genes affiliated with Cavernous Malformation

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cell peripheryGO:007194410.3CTNNB1, ITGB1BP1
2intercalated discGO:00147049.9CTNNB1, ITGB1
3lamellipodiumGO:00300278.9CTNNB1, ITGB1, ITGB1BP1
4cytoplasmGO:00057377.0CCM2, CTNNB1, ITGB1, ITGB1BP1, KRIT1, MAP3K3

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1endothelial tube morphogenesisGO:006115410.4CCM2, CTNNB1
2negative regulation of protein bindingGO:003209110.4CCM2L, ITGB1BP1
3negative regulation of cell migration involved in sprouting angiogenesisGO:009005110.3ITGB1BP1, PDCD10
4cellular response to fibroblast growth factor stimulusGO:004434410.2CTNNB1, ITGB1BP1
5negative regulation of ERK1 and ERK2 cascadeGO:007037310.2ITGB1BP1, PTEN
6negative regulation of focal adhesion assemblyGO:005189510.2ITGB1BP1, PTEN
7positive regulation of Notch signaling pathwayGO:004574710.2ITGB1BP1, PDCD10
8vasculature developmentGO:000194410.1CCM2, CTNNB1
9cardiac muscle tissue developmentGO:004873810.1ITGB1, PTEN
10cell fate specificationGO:000170810.1CTNNB1, ITGB1
11negative regulation of cell differentiationGO:004559610.1CTNNB1, ITGB1
12stress fiber assemblyGO:004314910.0ITGB1, PDCD10
13angiogenesisGO:00015259.9KRIT1, PDCD10, PTEN
14response to activityGO:00148239.9CTNNB1, ITGB1
15heart developmentGO:00075079.8CCM2, CTNNB1, PTEN
16integrin-mediated signaling pathwayGO:00072299.8CCM2, ITGB1, ITGB1BP1
17in utero embryonic developmentGO:00017019.7CCM2, CTNNB1, ITGB1
18vasculogenesisGO:00015709.6CCM2, CTNNB1
19cell migrationGO:00164779.6ITGB1, ITGB1BP1, PTEN
20cell-matrix adhesionGO:00071609.6CTNNB1, ITGB1, ITGB1BP1
21positive regulation of apoptotic processGO:00430659.5CTNNB1, ITGB1, PTEN
22negative regulation of cell proliferationGO:00082859.1CTNNB1, ITGB1, ITGB1BP1, PTEN
23positive regulation of cell proliferationGO:00082848.5CTNNB1, ITGB1, ITGB1BP1, PDCD10, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:00324039.1CTNNB1, ITGB1, ITGB1BP1, KRIT1
2protein kinase bindingGO:00199017.9CTNNB1, ITGB1, ITGB1BP1, PDCD10, PTEN

Sources for Cavernous Malformation

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet