MCID: INT145
MIFTS: 37

Intracranial Hemorrhage in Brain Cerebrovascular Malformations malady

Neuronal diseases, Cardiovascular diseases, Fetal diseases, Rare diseases categories
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Summaries for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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MalaCards based summary: Intracranial Hemorrhage in Brain Cerebrovascular Malformations, also known as intracranial arteriovenous malformation, is related to arteriovenous malformation and cerebritis, 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 HGF (hepatocyte growth factor (hepapoietin A; scatter factor)), and among its related pathways are PAK Pathway and TGF-Beta Pathway. The compounds pha 665752 and pf 04217903 mesylate have been mentioned in the context of this disorder. Affiliated tissues include brain and skin.

Description from OMIM:46 108010

Aliases & Classifications for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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Sources:
46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Intracranial Hemorrhage in Brain Cerebrovascular Malformations, Aliases & Descriptions:

Name: Intracranial Hemorrhage in Brain Cerebrovascular Malformations 46
Intracranial Arteriovenous Malformation 48 62
Cerebral Arteriovenous Malformation 48
 
Cerebral Arteriovenous Fistula 48
Cerebral Arteriovenous Shunt 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
intracranial arteriovenous malformation:
Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


External Ids:

OMIM46 108010
MESH via Orphanet35 D002538
ICD10 via Orphanet26 Q28.2
UMLS via Orphanet63 C0007772

Related Diseases for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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



Diseases related to intracranial hemorrhage in brain cerebrovascular malformations

Symptoms for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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Symptoms by clinical synopsis from OMIM:

108010

Clinical features from OMIM:

108010

Symptoms:

48
  • peripheral arteriovenous fistula
  • visceral angiomatosis (excluding skin)
  • cerebral vascular anomalies

HPO human phenotypes related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations:

id Description Frequency HPO Source Accession
1 abnormality of the cerebral vasculature hallmark (90%) HP:0100659
2 visceral angiomatosis hallmark (90%) HP:0100761
3 peripheral arteriovenous fistula hallmark (90%) HP:0100784
4 autosomal dominant inheritance HP:0000006
5 cerebral arteriovenous malformation HP:0002408

Drugs & Therapeutics for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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Drug clinical trials:

Search ClinicalTrials for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Search NIH Clinical Center for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Genetic Tests for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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Anatomical Context for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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

32
Brain, Skin

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

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Publications for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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Variations for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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Expression for genes affiliated with Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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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

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

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1IL6, HGF
2
Show member pathways
9.1HGF, IL6
3
Show member pathways
9.1HGF, IL6
4
Show member pathways
9.1IL6, HGF
5
Show member pathways
9.1HGF, IL6
6
Show member pathways
9.1HGF, IL6
7
Show member pathways
9.1HGF, IL6
8
Show member pathways
9.1IL6, HGF
9
Show member pathways
9.1IL6, HGF
10
Show member pathways
9.1HGF, IL6
11
Show member pathways
9.1HGF, IL6
12
Show member pathways
9.1HGF, IL6
139.1IL6, HGF
149.1HGF, IL6
15
Show member pathways
9.1HGF, IL6
16
Show member pathways
9.1HGF, IL6
179.1HGF, IL6

Compounds for genes affiliated with Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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

(show all 41)
idCompoundScoreTop Affiliating Genes
1pha 665752619.6HGF, IL6
2pf 04217903 mesylate619.6IL6, HGF
3su 11274619.6IL6, HGF
4rebamipide449.6HGF, IL6
5filgrastim44 1110.5IL6, HGF
6crizotinib61 5010.5IL6, HGF
7pmma449.5HGF, IL6
8dextran sulfate449.5IL6, HGF
9pdtc449.5HGF, IL6
10pge1449.5HGF, IL6
11aprotinin44 1110.5IL6, HGF
12thalidomide44 50 61 1112.5HGF, IL6
13sp 60012544 6110.5HGF, IL6
14prednisolone44 28 1111.5IL6, HGF
15hydrocortisone44 2 61 1112.5HGF, IL6
16tgf beta1449.5IL6, HGF
17herbimycin a44 6110.5HGF, IL6
18hyaluronic acid44 2410.5HGF, IL6
19methotrexate50 44 1111.5IL6, HGF
20n acetylcysteine449.5HGF, IL6
21indomethacin44 28 61 1112.5IL6, HGF
22sb 20358044 6110.5HGF, IL6
23vitamin d449.5HGF, IL6
24norepinephrine44 24 1111.5IL6, HGF
25histamine44 28 2411.4HGF, IL6
26pd 98,059449.4IL6, HGF
27ly294002449.4HGF, IL6
28actinomycin d449.4HGF, IL6
29genistein44 28 61 2 24 1114.4IL6, HGF
30cyclosporin a44 28 6111.4HGF, IL6
31pge2449.4IL6, HGF
32lactate449.4HGF, IL6
33thymidine44 2410.3HGF, IL6
34creatinine449.3IL6, HGF
35cycloheximide449.3HGF, IL6
36testosterone44 61 24 1112.2IL6, HGF
37dexamethasone44 50 28 1112.2HGF, IL6
38vegf449.1HGF, IL6
39retinoic acid44 2410.1HGF, IL6
40alanine449.0IL6, HGF
41estrogen448.8HGF, IL6

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

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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:0456699.2HGF, IL6
2negative regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:0431549.2HGF, IL6
3positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.1HGF, IL6
4positive regulation of transcription from RNA polymerase II promoterGO:0459449.1HGF, IL6
5platelet activationGO:0301689.0IL6, HGF
6negative regulation of apoptotic processGO:0430668.8HGF, IL6

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

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

Products for genes affiliated with Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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  • Antibodies
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Sources for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet