MCID: CVR010
MIFTS: 37

Cavernous Malformation malady

Summaries for Cavernous Malformation

Sources:
44NINDS, 64Wikipedia, 33MalaCards
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NINDS:44 A cerebral cavernous malformation (CCM) is a collection of small blood vessels (capillaries) in the central nervous system (CNS) that is enlarged and irregular in structure.

MalaCards: Cavernous Malformation is related to cerebral cavernous malformation and cerebral cavernous malformation, familial. An important gene associated with Cavernous Malformation is CCM2 (cerebral cavernous malformation 2), and among its related pathways are Glycogen breakdown (glycogenolysis) and mRNA surveillance pathway. The compounds fk 506 and calyculin a have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and retina.

Wikipedia:64 Cavernous hemangioma is a type of blood vessel malformation (hemangioma) that has relatively large... more...

Aliases & Classifications for Cavernous Malformation

Sources:
44NINDS, 31LifeMap Discovery™
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Aliases & Descriptions:

cavernous malformation 44 31


Related Diseases for Cavernous Malformation

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Cavernous Malformation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformation31.7CCM2, PDCD10, KRIT1
2cerebral cavernous malformation, familial31.0KRIT1, PDCD10, CCM2
3cerebral cavernous malformations 330.3PDCD10
4cerebral cavernous malformations-130.3KRIT1
5familial cerebral cavernous malformation 230.3CCM2
6vascular disease30.0KRIT1, PDCD10, CCM2
7klippel-trenaunay syndrome30.0CCM2, PDCD10, KRIT1
8arteriovenous malformation10.5
9congenital vascular cavernous malformations10.4
10familial hemangioma10.3
11cerebral angioma10.2
12siderosis10.2
13familial cerebral cavernous malformation 310.2
14nevus cavernosus10.2
15vascular erectile tumor10.2
16superficial siderosis10.2
17poland syndrome10.2
18trigeminal neuralgia10.2
19astrocytoma10.2
20familial cerebral cavernous malformation 110.2
21familial cerebral cavernous malformation 410.2
22cavernous malformations of cns and retina10.2
23moyamoya disease10.0
24astroblastoma10.0
25choroid plexus papilloma10.0
26greig cephalopolysyndactyly syndrome10.0
27brain edema10.0
28portal hypertension10.0
29mutism10.0
30multiple cutaneous and mucosal venous malformations10.0
31acute leukemia10.0
32acute lymphocytic leukemia10.0
33angiokeratoma10.0
34anaplastic astrocytoma10.0
35anaplastic oligodendroglioma10.0
36ependymoma10.0
37weber syndrome10.0
38pontine hemorrhage10.0
39cardiovascular disease risk factor10.0
40angiomatosis10.0
41chorea10.0
42headache10.0
43cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.0
44hemorrhage, intracerebral10.0
45cerebroretinal microangiopathy with calcifications and cysts10.0
46retinal cavernous hemangioma10.0
47dural sinus malformation10.0
48human venous malformation10.0KRIT1, PDCD10, CCM2
49stroke, ischemic10.0KRIT1, CCM2

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



Diseases related to cavernous malformation

Clinical Features for Cavernous Malformation

Drugs & Therapeutics for Cavernous Malformation

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cavernous Malformation

Drug clinical trials:

Search ClinicalTrials for Cavernous Malformation

Search NIH Clinical Center for Cavernous Malformation

Search CenterWatch for Cavernous Malformation

Genetic Tests for Cavernous Malformation

Anatomical Context for Cavernous Malformation

Sources:
33MalaCards
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MalaCards organs/tissues related to Cavernous Malformation:

33
Brain, Cortex, Retina, Spinal cord, Heart, Liver, T cells, Endothelial, Temporal lobe, Occipital lobe, Thalamus, Caudate nucleus, Medulla oblongata, Pineal

Animal Models for Cavernous Malformation or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Cavernous Malformation

Sources:
51PubMed
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Articles related to Cavernous Malformation:

(show top 50)    (show all 332)
idTitleAuthorsYear
1
Resection of pontine cavernous malformation through the pontomedullary sulcus. (24380516)
2014
2
Mapping affected sites of cavernous malformation in the posterior cranial fossa. (23981232)
2013
3
Brainstem cavernous malformation. (23761601)
2013
4
Subdural Hematoma from a Cavernous Malformation. (23314025)
2013
5
Contralateral transcallosal approach to basal ganglia cavernous malformation: 3-dimensional operative video. (23190631)
2013
6
Structural basis for the unique heterodimeric assembly between cerebral cavernous malformation 3 and germinal center kinase III. (23665169)
2013
7
Intracranial cavernous malformation in children: a single-centered experience with 30 consecutive cases. (23588283)
2013
8
Immunohistochemical investigations of orbital infantile hemangiomas and adult encapsulated cavernous venous lesions (malformation versus hemangioma). (23584448)
2013
9
Extradural spinal cavernous malformation: a rare but important mimic. (24073758)
2013
10
Isolated bilateral oculomotor nerve palsies due to a midbrain cavernous malformation. (24027259)
2013
11
Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation. (23584803)
2013
12
Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth. (22898778)
2012
13
Uncommon cavernous malformation of the optic chiasm: a case report. (22892383)
2012
14
Molecular recognition of leucine-aspartate repeat (LD) motifs by the focal adhesion targeting homology domain of cerebral cavernous malformation 3 (CCM3). (21632544)
2011
15
Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3. (20862502)
2011
16
Radiosurgery for radiosurgery-induced cavernous malformation. (21492671)
2011
17
MRI appearance of a cerebral cavernous malformation in the caudate nucleus before and after chorea onset. (21396825)
2011
18
A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. (21543988)
2011
19
Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype. (19833796)
2010
20
Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations. (20488708)
2010
21
Cavernous malformation of the optic nerve mimicking optic neuritis. (20351573)
2010
22
Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family. (20623299)
2010
23
Rho kinase inhibition rescues the endothelial cell cerebral cavernous malformation phenotype. (20181950)
2010
24
Cavernous malformation tumors: a case study and review of the literature. (19887972)
2010
25
Formation of intracerebral cavernous malformation after radiation treatment for medulloblastoma in a child. (24207041)
2009
26
Cerebral cavernous malformations: somatic mutations in vascular endothelial cells. (19574835)
2009
27
Familial cerebral cavernous malformation: report of a further Italian family. (19184323)
2009
28
Spinal root arteriovenous malformations and same-segment cord cavernous malformation in familial cerebral cavernous malformation. Case report. (18928219)
2008
29
Cerebral cavernous malformation--its genetic and biological background]. (19069160)
2008
30
Cavernous malformation of the optic chiasm : case report. (19096699)
2008
31
Intraventricular cavernous malformation radiologically mimicking meningioma. (19119474)
2008
32
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18380023)
2007
33
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383588)
2007
34
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18383594)
2007
35
Thoracic intramedullary cavernous malformation with posttraumatic hematomyelia: case report and literature review. (17904054)
2006
36
A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations. (16529293)
2006
37
Thrombus and encapsulated hematoma in cerebral cavernous malformations. (15759126)
2005
38
Biological activity of adult cavernous malformations: a study of 56 patients. (15739564)
2005
39
Mutations within the MGC4607 gene cause cerebral cavernous malformations. (14740320)
2004
40
Vascular malformation of hand: cavernous lymphangioma. (15810111)
2004
41
CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. (15079030)
2004
42
Thoracic intra- and extramedullary cavernous hemangioma associated with innumerable cerebral vascular malformations: case report and review of the literature. (12865621)
2003
43
Cerebral cavernous malformations: mutations in Krit1. (11914398)
2002
44
Cavernous malformation of the pineal region: short report and review of the literature. (10889892)
2000
45
Mutations in KRIT1 in familial cerebral cavernous malformations. (10807272)
2000
46
Bilateral cavernous malformations resulting from cranial irradiation of a choroid plexus papilloma. (9713844)
1998
47
Cystic cavernous malformation of the cerebellopontine angle. (9746302)
1998
48
Genetic heterogeneity of inherited cerebral cavernous malformation. (8727164)
1996
49
Cavernous malformation of the internal auditory canal. A case report. (8965122)
1995
50
Segmental portal hypertension due to congenital cavernous malformation of splenic vein. (4537266)
1972

Genetic Variations for Cavernous Malformation

Expression for genes affiliated with Cavernous Malformation

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cavernous Malformation

Search GEO for disease gene expression data for Cavernous Malformation.

Pathways for genes affiliated with Cavernous Malformation

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Cavernous Malformation according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4PPP2R3B, PPP2R5B
210.4PPP2R3B, PPP2R2D, PPP2R5B
3
Hide members
10.4FGFR1OP, PPP2R3B, PPP2R2D, PPP2R5B

Compounds for genes affiliated with Cavernous Malformation

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank
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Compounds related to Cavernous Malformation according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1fk 5066010.4PPP2R3B, PPP2R2D
2calyculin a45 60 1112.3KRIT1, PPP2R3B, PPP2R2D
3salubrinal6010.1PPP2R3B, PPP2R2D

GO Terms for genes affiliated with Cavernous Malformation

Sources:
16Gene Ontology
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Cellular components related to Cavernous Malformation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573710.2MOB4, PPP2R5B, PPP2R2D, PPFIA3, STRN4, STRIP1
2protein phosphatase type 2A complexGO:00015910.1STRN4, PPP2R3B, PPP2R2D, PPP2R5B

Molecular functions related to Cavernous Malformation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:03240310.4KRIT1, ITGB1BP1, STRN4
2protein phosphatase type 2A regulator activityGO:00860110.3IGBP1, PPP2R3B, PPP2R2D, PPP2R5B
3protein bindingGO:0055159.7STRN4, PPFIA3, PPP2R3B, PPP2R5B, PDCD10, MOB4

Products for genes affiliated with Cavernous Malformation

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cavernous Malformation

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet