MCID: INT145
MIFTS: 29

Intracranial Hemorrhage in Brain Cerebrovascular Malformations malady

Neuronal, Cardiovascular, Fetal categories

Summaries for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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47OMIM, 33MalaCards
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MalaCards: Intracranial Hemorrhage in Brain Cerebrovascular Malformations, also known as intracranial arteriovenous malformation, is related to intracranial arteriovenous malformation and arteriovenous malformation, and has symptoms including peripheral arteriovenous fistula, visceral angiomatosis (excluding skin) and cerebral vascular anomalies. An important gene associated with Intracranial Hemorrhage in Brain Cerebrovascular Malformations is IL6 (interleukin 6 (interferon, beta 2)), and among its related pathways are PI3K-Akt signaling pathway and p70S6K Signaling. The compounds pha 665752 and su 11274 have been mentioned in the context of this disorder. Affiliated tissues include brain.

Description from OMIM:47 108010

Aliases & Classifications for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Sources:
49Orphanet, 61UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
intracranial arteriovenous malformation:
Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

intracranial hemorrhage in brain cerebrovascular malformations 47
intracranial arteriovenous malformation 49 61
cerebral arteriovenous malformation 49
cerebral arteriovenous fistula 49
cerebral arteriovenous shunt 49


External Ids:

OMIM47 108010
MESH via Orphanet36 D002538
ICD10 via Orphanet26 Q28.2
UMLS via Orphanet62 C0007772

Related Diseases for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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17GeneCards, 18GeneDecks
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Diseases related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1intracranial arteriovenous malformation11.2
2arteriovenous malformation11.1
3intracranial aneurysm10.6
4pulmonary arteriovenous malformation10.5
5hereditary hemorrhagic telangiectasia10.5
6moyamoya disease10.3
7cerebral aneurysms10.3
8primary pulmonary hypertension10.2
9pseudoxanthoma elasticum10.2
10pseudotumor cerebri10.2
11syndactyly10.2
12siderosis10.2
13leber hereditary optic neuropathy10.2
14heart aneurysm10.2
15n syndrome10.2
16adenoma10.2
17hemophilia10.2
18giant congenital nevus10.2
19turcot syndrome10.2
20schizencephaly10.2
21myoclonus10.2
22superficial siderosis10.2
23encephalocraniocutaneous lipomatosis10.2
24polycythemia vera10.1
25brain edema10.1
26cerebral lymphoma10.1
27astrocytoma10.1
28thrombocytopenia10.1
29anaplastic astrocytoma10.1
30cerebral cavernous malformation10.1
31orbital lymphangioma10.1
32cavernous malformation10.1
33cerebral atrophy10.1
34cerebral hypoxia10.1
35hemifacial spasm10.1
36hypoxia10.1
37cerebral cavernous malformations-110.1
38hemorrhage, intracerebral10.1
39gastric ulcer10.0HGF
40proliferative diabetic retinopathy10.0HGF
41biliary atresia10.0HGF
42arteriosclerosis10.0HGF
43malignant mesothelioma10.0HGF
44hepatoblastoma10.0HGF
45pulmonary fibrosis10.0HGF
46periodontal disease10.0IL6
47acute pancreatitis10.0IL6
48liver cirrhosis10.0HGF
49meningitis10.0IL6
50vascular disease10.0IL6

Graphical network of the top 20 diseases related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations:



Diseases related to intracranial hemorrhage in brain cerebrovascular malformations

Clinical Features for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

108010

Clinical synopsis from OMIM:

108010

Symptoms:

49
  • peripheral arteriovenous fistula
  • visceral angiomatosis (excluding skin)
  • cerebral vascular anomalies

Drugs & Therapeutics for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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

Search CenterWatch for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Drug clinical trials:

Search ClinicalTrials for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Search NIH Clinical Center for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Search CenterWatch for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Genetic Tests for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Anatomical Context for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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33MalaCards
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MalaCards organs/tissues related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations:

33
Brain

Animal Models for Intracranial Hemorrhage in Brain Cerebrovascular Malformations or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Genetic Variations for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Expression for genes affiliated with Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Search GEO for disease gene expression data for Intracranial Hemorrhage in Brain Cerebrovascular Malformations.

Pathways for genes affiliated with Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Sources:
30KEGG, 52QIAGEN, 54Reactome
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Pathways related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1IL6, HGF
2
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9.1IL6, HGF
39.1HGF, IL6
4
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9.1IL6, HGF
5
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9.1IL6, HGF
6
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9.1IL6, HGF

Compounds for genes affiliated with Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Sources:
60Tocris Bioscience, 45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1pha 665752609.5IL6, HGF
2su 11274609.5IL6, HGF
3pf 04217903 mesylate609.5IL6, HGF
4rebamipide459.5HGF, IL6
5crizotinib50 6010.5HGF, IL6
6filgrastim45 1110.5IL6, HGF
7pmma459.5IL6, HGF
8dextran sulfate459.5HGF, IL6
9pdtc459.5IL6, HGF
10pge1459.5IL6, HGF
11thalidomide45 50 60 1112.5IL6, HGF
12sp 60012545 6010.4HGF, IL6
13prednisolone45 29 1111.4IL6, HGF
14tgf beta1459.4IL6, HGF
15herbimycin a45 6010.4HGF, IL6
16hyaluronic acid45 2410.4IL6, HGF
17methotrexate45 50 1111.4IL6, HGF
18n acetylcysteine459.4IL6, HGF
19indomethacin45 60 29 1112.4HGF, IL6
20sb 20358045 6010.3IL6, HGF
21vitamin d459.3IL6, HGF
22histamine45 29 2411.3HGF, IL6
23pd 98,059459.2IL6, HGF
24ly294002459.2IL6, HGF
25actinomycin d459.1HGF, IL6
26lactate459.1IL6, HGF
27genistein45 29 60 2 11 2414.0IL6, HGF
28pge2458.8IL6, HGF

GO Terms for genes affiliated with Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Sources:
16Gene Ontology
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Biological processes related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of osteoblast differentiationGO:0456699.1IL6, HGF
2platelet activationGO:0301689.1IL6, HGF
3negative regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:0431549.0IL6, HGF
4positive regulation of peptidyl-tyrosine phosphorylationGO:0507318.8IL6, HGF

Molecular functions related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:0080839.1IL6, HGF

Products for genes affiliated with Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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  • Proteins
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Sources for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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