MCID: CVR010
MIFTS: 37

Cavernous Malformation malady

Aliases & Classifications for Cavernous Malformation

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Aliases & Descriptions for Cavernous Malformation:

Name: Cavernous Malformation 49

Summaries for Cavernous Malformation

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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 p38 MAPK signaling pathway (Pathway Interaction Database) and Regulation of p38-alpha and p38-beta. 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

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

(show top 50)    (show all 82)
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
17chondrodysplasia punctata 1, x-linked10.0CCM2, KRIT1, PDCD10
18ichthyosis lamellar 110.0CCM2, KRIT1, PDCD10
19cerebellar astrocytoma10.0CCM2, KRIT1, PDCD10
20nail disorder, nonsyndromic congenital, 10,10.0CCM2, KRIT1, PDCD10
21epilepsy10.0
22weyers ulnar ray/oligodactyly syndrome10.0CCM2, KRIT1, PDCD10
23breast ductal carcinoma10.0CTNNB1, PTEN
24fibromatosis, gingival, 110.0CTNNB1, PTEN
25arteriovenous malformation10.0
26adult syndrome9.9CTNNB1, PTEN
27hemangioma9.9
28acromesomelic dysplasia, maroteaux type9.8CCM2, KRIT1, PDCD10, PTEN
29thyrotoxic periodic paralysis 29.8CTNNB1, PTEN
30trigeminal neuralgia9.8
31siderosis9.8
32cervicitis9.8
33superficial siderosis9.8
34trigonitis9.7
35melanoma9.7
36astrocytoma9.7
37retinitis9.7
38neuronitis9.7
39glioma9.7
40hypertrophic olivary degeneration9.7
41vascular malformation9.7
42aneurysm9.7
43pallister-hall syndrome9.6CCM2, CCM2L, KRIT1, MAP3K3, PDCD10
44retinitis pigmentosa 689.6CCM2, ITGB1BP1, KRIT1, MAP3K3, PDCD10
45pineal parenchymal tumor of intermediate differentiation9.6CCM2, ITGB1BP1, KRIT1, MAP3K3, PDCD10
46medulloblastoma9.6
47renal cell carcinoma9.6
48klippel-trenaunay-weber syndrome9.6
49obsessive-compulsive disorder9.6
50choroid plexus papilloma9.6

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



Diseases related to cavernous malformation

Symptoms & Phenotypes for Cavernous Malformation

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00103-A-09.2CTNNB1, MAP3K3, PDCD10, PTEN

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8CCM2, CTNNB1, ITGB1, ITGB1BP1, KRIT1
2MP:00107718.3CCM2, CTNNB1, ITGB1, KRIT1, PDCD10, PTEN
3MP:00020068.3CCM2L, CTNNB1, ITGB1, KRIT1, PDCD10, PTEN
4MP:00028737.8CCM2, CCM2L, CTNNB1, ITGB1, ITGB1BP1, PDCD10
5MP:00053807.7CCM2, CTNNB1, ITGB1, KRIT1, MAP3K3, PDCD10
6MP:00053857.4CCM2, CCM2L, CTNNB1, ITGB1, KRIT1, MAP3K3
7MP:00053697.3CCM2, CCM2L, CTNNB1, ITGB1, KRIT1, MAP3K3
8MP:00053787.3CCM2, CTNNB1, ITGB1, ITGB1BP1, KRIT1, MAP3K3
9MP:00053917.0CCM2, CTNNB1, ITGB1, ITGB1BP1, KRIT1, PDCD10
10MP:00107686.9CCM2, CCM2L, CTNNB1, ITGB1, ITGB1BP1, KRIT1

Drugs & Therapeutics for Cavernous Malformation

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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 12766
2Anticholesteremic AgentsPhase 1, Phase 2, Early Phase 12025
3Hypolipidemic AgentsPhase 1, Phase 2, Early Phase 12785
4Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 2, Early Phase 11998
5AntimetabolitesPhase 1, Phase 2, Early Phase 112054
6Atorvastatin CalciumPhase 1, Phase 2760134523-03-8
7Calcium, DietaryPhase 1, Phase 25713
8
Doxycyclineapproved, investigational, vet_approvedPhase 1243564-25-054671203
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 12051
10Antiparasitic AgentsPhase 12199
11Anti-Infective AgentsPhase 122062
12Anti-Bacterial AgentsPhase 111226
13AntimalarialsPhase 11246
14
SimvastatinapprovedEarly Phase 151979902-63-954454
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
Cobalt1677440-48-4104729
Synonyms:
Aquacat
Co
 
Cobalt-59
Cobatope-57
Kobalt
Super cobalt
17AstragalusNutraceutical55

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, Exploratory Proof of Concept 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
8A Prospective Study on the Incidence and Related Risk Factors of Infantile Hemangioma in ChinaRecruitingNCT03173352
9New 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

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Anatomical Context for Cavernous Malformation

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MalaCards organs/tissues related to Cavernous Malformation:

36
Brain, Spinal cord, Endothelial, Thalamus, Testes, Heart, Caudate nucleus

Publications for Cavernous Malformation

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Articles related to Cavernous Malformation:

(show top 50)    (show all 421)
idTitleAuthorsYear
1
Genetically diagnosed Birt-Hogg-DubAc syndrome and familial cerebral cavernous malformations in the same individual: a case report. (27722904)
2017
2
Endothelial exocytosis of angiopoietin-2 resulting from CCM3 deficiency contributes to cerebral cavernous malformation. (27548575)
2016
3
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
4
A giant frontal cavernous malformation with review of literature. (27114662)
2016
5
Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity? (26743915)
2016
6
Cavernous malformation in the conus medullaris: A rare report. (27381145)
2016
7
Introduction to Cerebral Cavernous Malformation: a brief review. (26923303)
2016
8
Hyperintense perilesional edema in the brain on T1-weighted images: Cavernous malformation or metastatic melanoma? Three case reports and literature review. (26838172)
2016
9
Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1. (26795600)
2016
10
Hyper-vascular giant cavernous malformation in a child: a case report and review. (27585994)
2016
11
Psammomatous Cavernous Malformation Presenting as Drug-Resistant Epilepsy: Case Illustration and Review of Literature. (27283183)
2016
12
Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling. (27027284)
2016
13
The relation between angioarchitectural factors of developmental venous anomaly and concomitant sporadic cavernous malformation. (27660100)
2016
14
Endoscope-assisted supracerebellar transtentorial approach to the posterior medial temporal lobe for resection of cavernous malformation. (26722685)
2016
15
Cavernous malformation of the optic chiasm: Neuro-endoscopic removal. (26889286)
2016
16
Metastatic renal cell carcinoma metastasising into a cerebral cavernous malformation. (27566437)
2016
17
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations. (27587990)
2016
18
PHACE syndrome is associated with intracranial cavernous malformations. (27125518)
2016
19
Cavernous malformation of the seventh cranial nerve- case report and review of literature. (27155386)
2016
20
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene. (27462358)
2016
21
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
22
Treatment of Nystagmus in Brainstem Cavernous Malformation with Botulinum Toxin. (27182467)
2016
23
Beyond multiple mechanisms and a unique drug: Defective autophagy as pivotal player in cerebral cavernous malformation pathogenesis and implications for targeted therapies. (27141412)
2016
24
Cerebral cavernous malformation in a woman presenting with hemichorea: Response to haloperidol. (26964513)
2016
25
The anterior interhemispheric approach to a third ventricular cavernous malformation. (26722693)
2016
26
Outcome after conservative management or surgical treatment for new-onset epilepsy in cerebral cavernous malformation. (27367244)
2016
27
Endothelial Cells Lining Sporadic Cerebral Cavernous Malformation Cavernomas Undergo Endothelial-to-Mesenchymal Transition. (26839352)
2016
28
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study. (27737651)
2016
29
Peripheral plasma vitamin D and non-HDL cholesterol reflect the severity of cerebral cavernous malformation disease. (26861901)
2016
30
Systemic Expression of Vascular Endothelial Growth Factor in Patients with Cerebral Cavernous Malformation Treated by Stereotactic Radiosurgery. (27651861)
2016
31
Natural history of cavernous malformation: Systematic review and meta-analysis of 25 studies. (27164680)
2016
32
Giant cavernous malformation in the ventrolateral midbrain with extension into the thalamus: a case report of a paramedian supracerebellar transtentorial approach. (27328840)
2016
33
Dysregulated exocytosis of angiopoietin-2 drives cerebral cavernous malformation. (27603130)
2016
34
Oxidative stress and inflammation in cerebral cavernous malformation disease pathogenesis: Two sides of the same coin. (27639680)
2016
35
Microsurgical Treatment of Thalamic Cavernous Malformation: 3-Dimensional Operative Video. (26308627)
2015
36
Cavernous Malformation in the Trigeminal Distribution. Aggressive Presentation and Management: Case Report. (26548819)
2015
37
Cavernous malformation of the optic chiasm: An uncommon location. (25949848)
2015
38
Structure and vascular function of MEKK3-cerebral cavernous malformations 2 complex. (26235885)
2015
39
PDCD10 (CCM3) regulates brain endothelial barrier integrity in cerebral cavernous malformation type 3: role of CCM3-ERK1/2-cortactin cross-talk. (26385474)
2015
40
Endoscopic endonasal transclival approach to a pontine cavernous malformation: case report. (26154899)
2015
41
Long-Term Outcome of Endonasal Transsphenoidal Approach for the Treatment of Pontine Cavernous Malformation: Case Report with 11 Years of Follow-Up. (26008953)
2015
42
Two cases of cavernous malformation presenting with unusual and large intracerebral hemorrhages. (25874183)
2015
43
Extradural spinal cavernous malformation presenting with radiculopathy. (26386177)
2015
44
The Role of Hemosiderin Excision in Seizure Outcome in Cerebral Cavernous Malformation Surgery: A Systematic Review and Meta-Analysis. (26305879)
2015
45
Structural Insights into the Molecular Recognition between Cerebral Cavernous Malformation 2 and Mitogen-Activated Protein Kinase Kinase Kinase 3. (25982527)
2015
46
The cerebral cavernous malformation pathway controls cardiac development via regulation of endocardial MEKK3 signaling and KLF expression. (25625206)
2015
47
Delayed diagnosis of vestibular epilepsy due to temporal cavernous malformation. (25819120)
2015
48
A large cavernous malformation of the third ventricle floor: A case report. (26652881)
2015
49
Characterization of radiation-induced cavernous malformations and comparison with a nonradiation cavernous malformation cohort. (25699412)
2015
50
Inclusion of Attentional Networks in the Pre-Surgical Neuroimaging Assessment of a Large Deep Hemispheric Cavernous Malformation: An fMRI Case Report. (25791396)
2015

Variations for Cavernous Malformation

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Expression for genes affiliated with Cavernous Malformation

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Search GEO for disease gene expression data for Cavernous Malformation.

Pathways for genes affiliated with Cavernous Malformation

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

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5CCM2, MAP3K3
29.5CCM2, MAP3K3
39.1ITGB1, PTEN
49.1CTNNB1, ITGB1
59.1CTNNB1, ITGB1
68.7ITGB1, ITGB1BP1, PTEN
7
Show member pathways
8.6CTNNB1, ITGB1, PTEN
8
Show member pathways
8.0CTNNB1, ITGB1, MAP3K3, PTEN
9
Show member pathways
8.0CTNNB1, ITGB1, MAP3K3, PTEN
10
Show member pathways
8.0CTNNB1, ITGB1, MAP3K3, PTEN
11
Show member pathways
8.0CTNNB1, ITGB1, MAP3K3, PTEN

GO Terms for genes affiliated with Cavernous Malformation

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

idNameGO IDScoreTop Affiliating Genes
1intercalated discGO:00147049.7CTNNB1, ITGB1
2lamellipodiumGO:00300278.7CTNNB1, ITGB1, ITGB1BP1
3cytoplasmGO:00057377.0CCM2, CTNNB1, ITGB1, ITGB1BP1, KRIT1, MAP3K3

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1endothelial tube morphogenesisGO:006115410.4CCM2, CTNNB1
2negative regulation of cell migration involved in sprouting angiogenesisGO:009005110.3ITGB1BP1, PDCD10
3negative regulation of ERK1 and ERK2 cascadeGO:007037310.2ITGB1BP1, PTEN
4negative regulation of focal adhesion assemblyGO:005189510.2ITGB1BP1, PTEN
5positive regulation of Notch signaling pathwayGO:004574710.1ITGB1BP1, PDCD10
6vasculature developmentGO:000194410.1CCM2, CTNNB1
7angiogenesisGO:00015259.9KRIT1, PDCD10, PTEN
8cardiac muscle tissue developmentGO:00487389.9ITGB1, PTEN
9cell fate specificationGO:00017089.9CTNNB1, ITGB1
10heart developmentGO:00075079.8CCM2, CTNNB1, PTEN
11stress fiber assemblyGO:00431499.7ITGB1, PDCD10
12vasculogenesisGO:00015709.6CCM2, CTNNB1
13integrin-mediated signaling pathwayGO:00072299.6CCM2, ITGB1, ITGB1BP1
14in utero embryonic developmentGO:00017019.5CCM2, CTNNB1, ITGB1
15cell migrationGO:00164779.4ITGB1, ITGB1BP1, PTEN
16cell-matrix adhesionGO:00071609.4CTNNB1, ITGB1, ITGB1BP1
17positive regulation of apoptotic processGO:00430659.3CTNNB1, ITGB1, PTEN
18positive regulation of cell proliferationGO:00082848.3CTNNB1, ITGB1, ITGB1BP1, PDCD10, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:00324039.5ITGB1, ITGB1BP1, KRIT1
2protein kinase bindingGO:00199018.6CTNNB1, ITGB1BP1, PDCD10, PTEN

Sources for Cavernous Malformation

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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