MCID: BRN027
MIFTS: 23

Brain Angioma

Categories: Cancer diseases, Cardiovascular diseases, Neuronal diseases

Aliases & Classifications for Brain Angioma

MalaCards integrated aliases for Brain Angioma:

Name: Brain Angioma 12 15
Brain Hemangioma 70

Classifications:



External Ids:

Disease Ontology 12 DOID:5393
NCIt 50 C7739
UMLS 70 C0238814

Summaries for Brain Angioma

MalaCards based summary : Brain Angioma, also known as brain hemangioma, is related to cerebral angioma and hemangioma. An important gene associated with Brain Angioma is CCM2 (CCM2 Scaffold Protein), and among its related pathways/superpathways is G-protein signaling_Rap1A regulation pathway. Affiliated tissues include brain and liver, and related phenotypes are embryo and growth/size/body region

Related Diseases for Brain Angioma

Graphical network of the top 20 diseases related to Brain Angioma:



Diseases related to Brain Angioma

Symptoms & Phenotypes for Brain Angioma

MGI Mouse Phenotypes related to Brain Angioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.65 CCM2 HEG1 KRIT1 PDCD10 RAPGEF2
2 growth/size/body region MP:0005378 9.63 CCM2 HEG1 ITGB1BP1 KRIT1 PDCD10 RAPGEF2
3 craniofacial MP:0005382 9.62 CCM2 HEG1 ITGB1BP1 KRIT1
4 muscle MP:0005369 9.26 CCM2 HEG1 KRIT1 PDCD10
5 vision/eye MP:0005391 9.02 CCM2 ITGB1BP1 KRIT1 PDCD10 RAPGEF2

Drugs & Therapeutics for Brain Angioma

Search Clinical Trials , NIH Clinical Center for Brain Angioma

Genetic Tests for Brain Angioma

Anatomical Context for Brain Angioma

MalaCards organs/tissues related to Brain Angioma:

40
Brain, Liver

Publications for Brain Angioma

Articles related to Brain Angioma:

# Title Authors PMID Year
1
High resolution mass spectrometry provides novel insights into the ganglioside pattern of brain cavernous hemangioma. 61
32987010 2020
2
Inhibition of intracranial hemangioma growth and hemorrhage by TNFSF15. 61
31242765 2019
3
Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. 61
21670341 2011
4
Determination of ganglioside composition and structure in human brain hemangioma by chip-based nanoelectrospray ionization tandem mass spectrometry. 61
19841910 2009
5
Restoring transcription factor HoxA5 expression inhibits the growth of experimental hemangiomas in the brain. 61
19458547 2009
6
Adeno-associated viral vector-mediated hypoxia-regulated VEGF gene transfer promotes angiogenesis following focal cerebral ischemia in mice. 61
17960159 2008
7
Treated brain angioma patients and licence to drive. 61
11478077 2001
8
A rare coexistence of a multicentric hepatic hemangioendothelioma with a large brain hemangioma in a preterm infant. 61
8078719 1994
9
[Surgery of brain angioma (hemangioblastoma cerebelli) during the 31st week of pregnancy]. 61
1304533 1992
10
[Vascular malformations of the brain: angioma racemosum cerebri]. 61
13608639 1958

Variations for Brain Angioma

Expression for Brain Angioma

Search GEO for disease gene expression data for Brain Angioma.

Pathways for Brain Angioma

Pathways related to Brain Angioma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.32 RAPGEF2 KRIT1

GO Terms for Brain Angioma

Cellular components related to Brain Angioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 8.8 RAPGEF2 KRIT1 HEG1

Biological processes related to Brain Angioma according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.54 PDCD10 KRIT1 ITGB1BP1
2 small GTPase mediated signal transduction GO:0007264 9.52 RAPGEF2 KRIT1
3 integrin-mediated signaling pathway GO:0007229 9.51 ITGB1BP1 CCM2
4 multicellular organism growth GO:0035264 9.49 HEG1 CCM2
5 vasculogenesis GO:0001570 9.48 HEG1 CCM2
6 blood vessel development GO:0001568 9.46 RAPGEF2 CCM2
7 positive regulation of Notch signaling pathway GO:0045747 9.43 PDCD10 ITGB1BP1
8 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.4 PDCD10 ITGB1BP1
9 cell-cell junction organization GO:0045216 9.32 HEG1 CCM2
10 vasculature development GO:0001944 9.26 HEG1 CCM2
11 pericardium development GO:0060039 9.16 HEG1 CCM2
12 venous blood vessel morphogenesis GO:0048845 8.96 HEG1 CCM2
13 endothelial cell development GO:0001885 8.62 HEG1 CCM2

Sources for Brain Angioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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