MCID: INT145
MIFTS: 46

Intracranial Hemorrhage in Brain Cerebrovascular Malformations malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Aliases & Descriptions for Intracranial Hemorrhage in Brain Cerebrovascular Malformations:

Name: Intracranial Hemorrhage in Brain Cerebrovascular Malformations 54
Intracranial Arteriovenous Malformation 12 50 56 69
Arteriovenous Malformations of the Brain 54 12 14
Cerebral Arteriovenous Malformation 12 56
Intracranial Hemorrhage in Brain Cerebrovascular Malformations, Susceptibility to 13
Intracranial Arteriovenous Malformations 42
Cerebral Arteriovenous Malformations 29
Intracranial Avm 50

Characteristics:

Orphanet epidemiological data:

56
cerebral arteriovenous malformation
Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32
intracranial hemorrhage in brain cerebrovascular malformations:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 108010
Disease Ontology 12 DOID:0060688
ICD10 33 Q28.2
MeSH 42 D002538
Orphanet 56 ORPHA46724
MESH via Orphanet 43 D002538
ICD10 via Orphanet 34 Q28.2
UMLS via Orphanet 70 C0007772
UMLS 69 C0007772

Summaries for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

NIH Rare Diseases : 50 intracranial arteriovenous malformations (avms) are abnormal connections between the arteries and veins in the brain.  most people with brain or spinal avms experience few, if any, major symptoms. about 12 percent of people with this condition experience symptoms that vary greatly in severity. seizures and headaches are the most common symptoms of avms but individuals can also experience a wide range of other neurological symptoms. avms can cause hemorrhage (bleeding) in the brain, which can be fatal. symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. the cause of avms is not yet well understood but it is believed that avms result from mistakes that occur during embryonic or fetal development. medication is used to treat general symptoms such as headache, back pain, and seizures caused by avms. however, the best treatment for avms is often surgery or sterotactic radiosurgery. last updated: 6/18/2012

MalaCards based summary : Intracranial Hemorrhage in Brain Cerebrovascular Malformations, also known as intracranial arteriovenous malformation, is related to atherosclerosis and degenerative disc disease, 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 IL6 (Interleukin 6), and among its related pathways/superpathways are Ras signaling pathway and PI3K-Akt signaling pathway. The drugs Anesthetics and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include brain and the brain, and related phenotypes are cardiovascular system and growth/size/body region

Disease Ontology : 12 An arteriovenous malformation that is located in the brain.

Description from OMIM: 108010

Related Diseases for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Diseases related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
id Related Disease Score Top Affiliating Genes
1 atherosclerosis 10.2 IL6 RASA1
2 degenerative disc disease 10.1 IL6 VEGFA
3 cardiac tuberculosis 10.1 IL6 VEGFA
4 bipolar i disorder 10.1 IL6 VEGFA
5 prinzmetal's variant angina 10.1 IL6 VEGFA
6 kidney osteogenic sarcoma 10.1 RASA1 VEGFA
7 vogt-koyanagi-harada disease 10.1 IL6 VEGFA
8 conjugate gaze palsy 10.1 IL6 VEGFA
9 retinal degeneration 10.1 IL6 VEGFA
10 vesiculobullous skin disease 10.1 RASA1 VEGFA
11 cryptosporidiosis 10.1 IL6 VEGFA
12 angular blepharoconjunctivitis 10.1 IL6 VEGFA
13 breast apocrine carcinoma 10.1 THBS1 VEGFA
14 intracranial hypotension 10.1 RASA1 VEGFA
15 multilocular clear cell renal cell carcinoma 10.1 IL6 VEGFA
16 leukoplakia of vagina 10.1 IL6 VEGFA
17 pyriform sinus cancer 10.1 IL6 VEGFA
18 ectodermal dysplasia bartalos type 10.1 IL6 VEGFA
19 ischemic optic neuropathy 10.1 IL6 VEGFA
20 scar contracture 10.0 IL6 VEGFA
21 focal dystonia 10.0 IL6 VEGFA
22 mitral valve stenosis 10.0 THBS1 VEGFA
23 urinary bladder posterior wall cancer 10.0 IL6 VEGFA
24 subdural empyema 10.0 THBS1 VEGFA
25 oppositional defiant disorder 10.0 IL6 VEGFA
26 vulvitis 10.0 IL6 VEGFA
27 spinocerebellar ataxia 25 9.9 IL6 VEGFA
28 arteriovenous malformation 9.9
29 metagonimiasis 9.9 IL6 VEGFA
30 pituitary infarct 9.8 IL6 RASA1 THBS1 VEGFA
31 intracranial aneurysm 9.7
32 central nervous system vasculitis 9.7
33 vasculitis 9.7
34 aneurysm 9.7
35 craniosynostosis, type 1 9.1 EFNB2 EPHB4 IL6 RASA1 SPTLC1 THBS1

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 & Phenotypes for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Symptoms by clinical synopsis from OMIM:

108010

Clinical features from OMIM:

108010

Human phenotypes related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the cerebral vasculature 56 32 Very frequent (99-80%) HP:0100659
2 visceral angiomatosis 56 32 Very frequent (99-80%) HP:0100761
3 peripheral arteriovenous fistula 56 32 Very frequent (99-80%) HP:0100784
4 cerebral arteriovenous malformation 32 HP:0002408

MGI Mouse Phenotypes related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 EFNB2 EPHB4 IL6 RASA1 THBS1 VEGFA
2 growth/size/body region MP:0005378 9.88 RASA1 THBS1 VEGFA EFNB2 EPHB4 IL6
3 mortality/aging MP:0010768 9.87 EFNB2 EPHB4 IL6 RASA1 SPTLC1 THBS1
4 immune system MP:0005387 9.85 EFNB2 EPHB4 IL6 RASA1 THBS1 VEGFA
5 digestive/alimentary MP:0005381 9.83 THBS1 VEGFA EFNB2 IL6 RASA1
6 muscle MP:0005369 9.73 EFNB2 EPHB4 IL6 RASA1 THBS1 VEGFA
7 renal/urinary system MP:0005367 9.55 EFNB2 EPHB4 IL6 THBS1 VEGFA
8 reproductive system MP:0005389 9.35 EFNB2 IL6 SPTLC1 THBS1 VEGFA
9 skeleton MP:0005390 9.02 EFNB2 IL6 RASA1 THBS1 VEGFA

Drugs & Therapeutics for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Drugs for Intracranial Hemorrhage in Brain Cerebrovascular Malformations (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Phase 4
2
Warfarin Approved Phase 3 81-81-2 6691 54678486
3
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
4 Anticoagulants Phase 3
5 Antithrombin III Phase 3
6 Antithrombins Phase 3
7 Dabigatran Phase 3
8 HIV Protease Inhibitors Phase 3
9
protease inhibitors Phase 3
10 Serine Proteinase Inhibitors Phase 3
11 Thrombin Phase 3
12 serine Nutraceutical Phase 3
13 Epoetin alfa Phase 2 113427-24-0
14 Hematinics Phase 2,Early Phase 1
15
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
16
Minocycline Approved, Investigational Phase 1 10118-90-8 5281021
17
Tetracycline Approved, Vet_approved Phase 1 60-54-8 5353990
18 Anti-Bacterial Agents Phase 1
19 Anti-Infective Agents Phase 1
20 Antimalarials Phase 1
21 Antiparasitic Agents Phase 1
22 Antiprotozoal Agents Phase 1
23
Iron Approved Early Phase 1 7439-89-6 23925
24
Epinephrine Approved, Vet_approved 51-43-4 5816
25
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757 53477783
26
Hydrocortisone Approved, Vet_approved 50-23-7 5754 657311
27
Menthol Approved 2216-51-5 16666
28
Methyltestosterone Approved 58-18-4 6010
29
Testosterone Approved, Investigational 58-22-0 6013
30
Glucosamine Approved, Nutraceutical 3416-24-8 439213
31 Antimetabolites
32 Fibrinolytic Agents
33 Glucuronyl glucosamine glycan sulfate
34 Hypoglycemic Agents
35 Hypolipidemic Agents
36 Lipid Regulating Agents
37 Arginine Vasopressin
38 Mitogens
39 Ferrosoferric Oxide Early Phase 1
40 Parenteral Nutrition Solutions Early Phase 1
41 Pharmaceutical Solutions Early Phase 1
42
Cobalt 7440-48-4 104729
43 Cortisol succinate
44 Epinephryl borate
45 Estradiol 17 beta-cypionate
46 Estradiol 3-benzoate
47 Estradiol valerate 979-32-8
48 Hormones
49 Hydrocortisone 17-butyrate 21-propionate
50 Hydrocortisone acetate

Interventional clinical trials:

(show all 47)
id Name Status NCT ID Phase
1 Yellow 560 Microscope for Intraoperative Visualization of Fluorescein Stained Intracranial Lesions Recruiting NCT02478346 Phase 4
2 Assessment of the Embolization of Neurovascular Lesions Using the Penumbra Smart Coil Recruiting NCT02729740 Phase 4
3 Functional Magnetic Resonance Imagine(fMRI)Navigation in Intracranial Arteriovenous Malformation Surgery Unknown status NCT01758211 Phase 3
4 A Randomized Trial of Unruptured Brain AVMs Completed NCT00389181 Phase 3
5 Randomized Evaluation of Long Term Anticoagulant Therapy (RE-LY) With Dabigatran Etexilate Completed NCT00262600 Phase 3
6 Dabigatran Etexilate for Secondary Stroke Prevention in Patients With Embolic Stroke of Undetermined Source (RE-SPECT ESUS) Recruiting NCT02239120 Phase 3
7 Erythropoietin Therapy for Subarachnoid Hemorrhage Completed NCT00140010 Phase 2
8 Study Evaluating the Safety,Tolerability and Efficacy of PF-04360365 in Adults With Probable Cerebral Amyloid Angiopathy Completed NCT01821118 Phase 2
9 Tetracycline-Derivatives for Treatment of Cerebral Arteriovenous Malformations and Aneurysms Completed NCT00243893 Phase 1
10 Influence of MMP on Brain AVM Hemorrhage Completed NCT00783523 Phase 1
11 Safety and Tolerability of PF-05230907 in Intracerebral Hemorrhage Recruiting NCT02687191 Phase 1
12 Nationwide Treatment Survey of Intracranial Arteriovenous Malformation in China Unknown status NCT01803685
13 MRI for the Early Evaluation of Acute Intracerebral Hemorrhage Unknown status NCT01689402
14 Cerebral Dysfunction in Chronic ITPwith High Risk of Serious Bleeding Excluding Intracranial Hemorrhage. Unknown status NCT01764971
15 Serial Echocardiography After Subarachnoid Hemorrhage Unknown status NCT00123695
16 Protocol for Staged Stereotactic Radiosurgery for Large Arteriovenous Malformations Completed NCT02576535
17 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648
18 Safety of Apollo Micro Catheter in Pediatric Patients Completed NCT02085278
19 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
20 Study of Abnormal Blood Clotting in Children With Stroke Completed NCT00001927
21 Blood-brain Barrier Quantification in Cerebral Small Vessel Disease Completed NCT02033291
22 Electrolyte and Fluid Disturbances in Subarachnoid Hemorrhage and Traumatic Brain Injury Completed NCT01313975
23 Prediction of Major Bleeding in ELBW-infants (<1000g) by Sequential Coagulation Monitoring Completed NCT01976013
24 Multimodal Imaging Techniques in Assessing the Surgical Risk for Eloquent Arteriovenous Malformations Recruiting NCT02868008
25 ONYX Evaluation in the Endovascular Treatment of Cerebral Arteriovenous Malformations (cAVM) Recruiting NCT02180958
26 Treatment of Cerebral Arteriovenous Malformations With SQUID™ Liquid Embolic Agent Recruiting NCT02602990
27 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia Recruiting NCT01158807
28 Treatment of Brain AVMs (TOBAS) Study Recruiting NCT02098252
29 Genetic, Metabolic, and Growth Factor Repository for Cerebrovascular Disorders Recruiting NCT02910180
30 CoHOrt of Cerebral CavernOus maLformATion: multicEnter Prospective Observational Study Recruiting NCT02946866
31 Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Etiology, Triggers, and Outcome Recruiting NCT01934725
32 Effect of Ischemic Strokes on Recovery From Intracerebral Hemorrhages Recruiting NCT01417117
33 Evaluation of Transcutaneous Trigeminal Nerve Stimulation for Prevention of Cerebral Vasospasm After Subarachnoid Haemorrhage Recruiting NCT02482883
34 Takotsubo Cardiomyopathy in Patients Suffering From Acute Non-traumatic Subarachnoid Hemorrhage Recruiting NCT02659878
35 ONYX Evaluation in the Endovascular Treatment of Intracranial Dural Arteriovenous Fistulae Active, not recruiting NCT02180945
36 Using Ferumoxytol-Enhanced MRI to Measure Inflammation in Patients With Brain Tumors or Other Conditions of the CNS Active, not recruiting NCT02452216 Early Phase 1
37 Multicenter Validation of the AVICH Score Enrolling by invitation NCT02920645
38 Biocollection on the Familial Forms of Intracranial Aneurysm Enrolling by invitation NCT02848495
39 Prospective Study to Assess the Safety and Performance of the Easyx Antia Liquid Embolic in Intracranial Interventions Not yet recruiting NCT02863133
40 Advanced 3 T MRI Evaluation of Brain AVMs With SWAN and Time-resolved MRA: Comparison to Catheter Angiography Not yet recruiting NCT03031873
41 New Covered Stent (Willis) for the Endovascular Reconstruction of Intracranial Vessel Wall Defects Registry Not yet recruiting NCT02820779
42 Multimodality Monitoring Directed Management of Aneurysmal Subarachnoid Haemorrhage Not yet recruiting NCT03010709
43 I-CAN Biocollection Not yet recruiting NCT02712892
44 Pituitary Dysfunction After Aneurysmal Subarachnoid Hemorrhage Not yet recruiting NCT02915380
45 Genome-wide Analysis of Single Nucleotide Polymorphisms of Brain Arteriovenous Malformations and Cerebral Aneurysm Terminated NCT01801488
46 Micro Ribonucleic Acid (miRNA) Markers of Hydrocephalus in Intraventricular Hemorrhage (IVH) Terminated NCT02386228
47 Study to Evaluate Esmolol (Brevibloc) to Manage Cardiac Function in Patients With Subarachnoid Hemorrhage Withdrawn NCT01232400

Search NIH Clinical Center for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Cochrane evidence based reviews: intracranial arteriovenous malformations

Genetic Tests for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Genetic tests related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations:

id Genetic test Affiliating Genes
1 Cerebral Arteriovenous Malformation 29

Anatomical Context for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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

39
Brain

The Foundational Model of Anatomy Ontology organs/tissues related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations:

18
The Brain

Publications for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Variations for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Expression for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

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

Pathways for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

GO Terms for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

Cellular components related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.62 THBS1 VEGFA

Biological processes related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations according to GeneCards Suite gene sharing:

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.71 EFNB2 IL6 VEGFA
2 negative regulation of apoptotic process GO:0043066 9.71 IL6 RASA1 THBS1 VEGFA
3 positive regulation of cell proliferation GO:0008284 9.62 EFNB2 IL6 THBS1 VEGFA
4 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.6 IL6 VEGFA
5 response to mechanical stimulus GO:0009612 9.59 IL6 THBS1
6 positive regulation of epithelial cell proliferation GO:0050679 9.58 IL6 VEGFA
7 positive regulation of translation GO:0045727 9.58 IL6 THBS1
8 response to calcium ion GO:0051592 9.57 IL6 THBS1
9 positive regulation of smooth muscle cell proliferation GO:0048661 9.56 IL6 THBS1
10 vasculogenesis GO:0001570 9.55 RASA1 VEGFA
11 regulation of cell shape GO:0008360 9.54 IL6 RASA1 VEGFA
12 heart morphogenesis GO:0003007 9.52 EPHB4 VEGFA
13 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.51 IL6 VEGFA
14 positive regulation of endothelial cell migration GO:0010595 9.49 THBS1 VEGFA
15 blood vessel morphogenesis GO:0048514 9.48 EFNB2 RASA1
16 positive regulation of blood vessel endothelial cell migration GO:0043536 9.46 THBS1 VEGFA
17 negative regulation of cell-matrix adhesion GO:0001953 9.43 RASA1 THBS1
18 ephrin receptor signaling pathway GO:0048013 9.43 EFNB2 EPHB4 RASA1
19 regulation of cGMP metabolic process GO:0030823 9.16 THBS1 VEGFA
20 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043154 9.13 IL6 THBS1 VEGFA
21 cell migration involved in sprouting angiogenesis GO:0002042 8.8 EFNB2 EPHB4 VEGFA

Molecular functions related to Intracranial Hemorrhage in Brain Cerebrovascular Malformations according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.43 EFNB2 IL6 RASA1
2 glycoprotein binding GO:0001948 9.16 RASA1 THBS1
3 extracellular matrix binding GO:0050840 8.96 THBS1 VEGFA
4 fibronectin binding GO:0001968 8.62 THBS1 VEGFA

Sources for Intracranial Hemorrhage in Brain Cerebrovascular Malformations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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