MCID: INT145
MIFTS: 37

Intracranial Hemorrhage in Brain Cerebrovascular Malformations malady

Neuronal diseases, Cardiovascular diseases, Fetal diseases, Rare diseases categories

Summaries for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

About this section


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 abnormality of the cerebral vasculature, visceral angiomatosis and peripheral arteriovenous fistula. 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

About this section
Sources:
46OMIM, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Intracranial Hemorrhage in Brain Cerebrovascular Malformations, Aliases & Descriptions:

Name: Intracranial Hemorrhage in Brain Cerebrovascular Malformations 46
Intracranial Arteriovenous Malformation 48 61
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 Orphanet27 Q28.2
UMLS via Orphanet62 C0007772

Related Diseases for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

About this section

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

About this section

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

About this section

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

About this section

Anatomical Context for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

About this section

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

About this section

Publications for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

About this section

Variations for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

About this section

Expression for genes affiliated with Intracranial Hemorrhage in Brain Cerebrovascular Malformations

About this section
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

About this section

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
9.1IL6, HGF
3
Show member pathways
9.1IL6, HGF
4
Show member pathways
9.1HGF, IL6
5
Show member pathways
9.1HGF, IL6
6
Show member pathways
9.1IL6, HGF
7
Show member pathways
9.1HGF, IL6
8
Show member pathways
9.1IL6, HGF
9
Show member pathways
9.1HGF, IL6
10
Show member pathways
9.1IL6, HGF
11
Show member pathways
9.1IL6, HGF
12
Show member pathways
9.1HGF, IL6
139.1IL6, HGF
149.1HGF, IL6
15
Show member pathways
9.1IL6, HGF
16
Show member pathways
9.1IL6, HGF
179.1IL6, HGF

Compounds for genes affiliated with Intracranial Hemorrhage in Brain Cerebrovascular Malformations

About this section

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

(show all 41)
idCompoundScoreTop Affiliating Genes
1pha 665752609.6HGF, IL6
2pf 04217903 mesylate609.6IL6, HGF
3su 11274609.6IL6, HGF
4rebamipide449.6HGF, IL6
5filgrastim44 1210.5IL6, HGF
6crizotinib60 5010.5IL6, HGF
7pmma449.5HGF, IL6
8dextran sulfate449.5IL6, HGF
9pdtc449.5HGF, IL6
10pge1449.5HGF, IL6
11aprotinin44 1210.5IL6, HGF
12thalidomide44 50 60 1212.5HGF, IL6
13sp 60012544 6010.5HGF, IL6
14prednisolone44 29 1211.5IL6, HGF
15hydrocortisone44 3 60 1212.5HGF, IL6
16tgf beta1449.5IL6, HGF
17herbimycin a44 6010.5HGF, IL6
18hyaluronic acid44 2510.5HGF, IL6
19methotrexate50 44 1211.5IL6, HGF
20n acetylcysteine449.5HGF, IL6
21indomethacin44 29 60 1212.5IL6, HGF
22sb 20358044 6010.5HGF, IL6
23vitamin d449.5HGF, IL6
24norepinephrine44 25 1211.5IL6, HGF
25histamine44 29 2511.4HGF, IL6
26pd 98,059449.4IL6, HGF
27ly294002449.4HGF, IL6
28actinomycin d449.4HGF, IL6
29genistein44 29 60 3 25 1214.4IL6, HGF
30cyclosporin a44 29 6011.4HGF, IL6
31pge2449.4IL6, HGF
32lactate449.4HGF, IL6
33thymidine44 2510.3HGF, IL6
34creatinine449.3IL6, HGF
35cycloheximide449.3HGF, IL6
36testosterone44 60 25 1212.2IL6, HGF
37dexamethasone44 50 29 1212.2HGF, IL6
38vegf449.1HGF, IL6
39retinoic acid44 2510.1HGF, IL6
40alanine449.0IL6, HGF
41estrogen448.8HGF, IL6

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet