MCID: CVR010
MIFTS: 23

Cavernous Malformation malady

Summaries for Cavernous Malformation

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43NINDS, 63Wikipedia, 32MalaCards
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NINDS:43 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, familial and cerebral cavernous malformation. 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.

Wikipedia:63 Cavernous hemangioma is a type of blood vessel malformation (hemangioma) that has relatively large... more...

Aliases & Classifications for Cavernous Malformation

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43NINDS
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Aliases & Descriptions:

cavernous malformation 43


Related Diseases for Cavernous Malformation

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

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformation, familial31.1KRIT1, PDCD10, CCM2
2cerebral cavernous malformation31.1CCM2, PDCD10, KRIT1
3cerebral cavernous malformations 330.2PDCD10
4familial cerebral cavernous malformation 230.2CCM2
5cerebral cavernous malformations-130.1KRIT1
6vascular disease29.9KRIT1, PDCD10, CCM2
7klippel-trenaunay syndrome29.9CCM2, PDCD10, KRIT1
8cerebritis11.0
9arteriovenous malformation10.4
10cavernous hemangioma10.3
11congenital vascular cavernous malformations10.3
12siderosis10.2
13hemangioma10.2
14familial cerebral cavernous malformation 310.2
15familial hemangioma10.2
16nevus cavernosus10.2
17vascular erectile tumor10.2
18cerebral angioma10.1
19trigonitis10.1
20poland syndrome10.1
21neuronitis10.1
22trigeminal neuralgia10.1
23astrocytoma10.1
24cervicitis10.1
25meningioma10.1
26retinitis10.1
27familial cerebral cavernous malformation 110.1
28familial cerebral cavernous malformation 410.1
29cavernous malformations of cns and retina10.1
30human venous malformation10.0KRIT1, PDCD10, CCM2
31stroke, ischemic10.0KRIT1, CCM2
32arteriovenous fistula9.9
33moyamoya disease9.9
34astroblastoma9.9
35choroid plexus papilloma9.9
36choroiditis9.9
37greig cephalopolysyndactyly syndrome9.9
38brain edema9.9
39portal hypertension9.9
40mutism9.9
41multiple cutaneous and mucosal venous malformations9.9
42acute leukemia9.9
43hepatitis a9.9
44acute lymphocytic leukemia9.9
45angiokeratoma9.9
46capillary disease9.9
47cerebellar disease9.9
48cerebral palsy9.9
49glioblastoma multiforme9.9
50hepatitis9.9

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



Diseases related to cavernous malformation

Clinical Features for Cavernous Malformation

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Drugs & Therapeutics for Cavernous Malformation

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Cavernous Malformation

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Animal Models for Cavernous Malformation or affiliated genes

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Publications for Cavernous Malformation

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Genetic Variations for Cavernous Malformation

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Expression for genes affiliated with Cavernous Malformation

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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

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Cavernous Malformation according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Cavernous Malformation

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Sources:
59Tocris Bioscience, 44Novoseek, 11DrugBank
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Compounds related to Cavernous Malformation according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1fk 5065910.4PPP2R3B, PPP2R2D
2calyculin a44 59 1112.3KRIT1, PPP2R3B, PPP2R2D
3salubrinal5910.1PPP2R3B, PPP2R2D

GO Terms for genes affiliated with Cavernous Malformation

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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:00860110.3PPP2R5B, PPP2R2D, PPP2R3B, IGBP1
3protein bindingGO:0055159.7MST4, PPP2R5B, PDCD10, MOB4, CCM2, PPP2R3B

Products for genes affiliated with Cavernous Malformation

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cavernous Malformation

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet