MCID: MYM002
MIFTS: 56

Moyamoya Disease malady

Cardiovascular diseases, Neuronal diseases categories

Summaries for Moyamoya Disease

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Sources:
42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Moyamoya disease is a rare, progressive, blood vessel disease caused by blocked arteries at the base of the brain in an area called the basal ganglia. the name "moyamoya" means "puff of smoke" in japanese and describes the look of the tangle of tiny vessels formed to compensate for the blockage. this condition primarily affects children, but can affect adults. in moyamoya disease the carotid arteries are thickened, slowing blood flow to the brain and increasing the risk for blood clots, strokes, and transient ischemic attacks (tia), frequently accompanied by seizures and muscular weakness or paralysis on one side of the body. individuals with this disorder may have disturbed consciousness, speech deficits (usually aphasia), sensory and cognitive impairments, involuntary movements, and vision problems.  because it tends to run in families, researchers think that moyamoya disease is the result of inherited genetic abnormalities. moyamoya syndrome is a related term that refers to cases of moyamoya disease that occurs in association with other conditions or risk factors (e.g., neurofibromatosis, tuberculosis meningitis, sickle cell disease, leptospirosis, brain tumors, sturge-weber syndrome, tuberous sclerosis).  last updated: 9/19/2011

MalaCards: Moyamoya Disease, also known as moyamoya disease 2, is related to holoprosencephaly and pituitary adenoma, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, seizures/epilepsy/absences/spasms/status epilepticus and cerebral vascular anomalies. An important gene associated with Moyamoya Disease is RNF213 (ring finger protein 213), and among its related pathways are Angiogenesis and PAK Pathway. The compounds cmdb7 and hydroxamate have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and skin.

NINDS:43 Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name ?moyamoya? means ?puff of smoke? in Japanese and describes the look of the tangle of tiny vessels formed to compensate for the blockage.

Wikipedia:63 Moyamoya syndrome is a disease in which certain arteries in the brain are constricted. Blood flow is... more...

Description from OMIM:46 252350,607151,608796,614042

Aliases & Classifications for Moyamoya Disease

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
moyamoya disease:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/1000000; Age of onset: Variable


Aliases & Descriptions:

moyamoya disease 8 9 42 43 46 10 44 48 60
moyamoya disease 2 42 46 60
moyamoya disease 3 42 46 60
moyamoya disease 1 42 60
progressive intracranial arterial occlusion 8
moyamoya disease, secondary 42
moyamoya disease, primary 42


External Ids:

Disease Ontology8 DOID:13099
NCIt39 C84895
MeSH34 D009072
ICD9CM27 437.5
SNOMED-CT56 89142007, 69116000
MESH via Orphanet35 C536991, D009072
ICD10 via Orphanet26 I67.5
SNOMED-CT via Orphanet57 69116000, 89142007
UMLS via Orphanet61 C0026654, C2931384
ICD1025 I67.5

Related Diseases for Moyamoya Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Moyamoya Disease family:

Moyamoya Disease 5 Moyamoya Disease 4

Diseases related to Moyamoya Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1holoprosencephaly29.9ZIC2, SIX3, TGIF1
2pituitary adenoma29.9FGF2, NUDT6
3cerebritis10.9
4cerebral arterial disease10.7
5hemorrhagic disease10.7
6aneurysm disease10.6
7brain disease10.6
8cerebrovascular disease10.6
9carotid artery disease10.5
10ischemia10.4
11vascular disease10.4
12moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism10.4
13hypertension10.4
14coronary artery disease10.3
15moyamoya disease 510.3
16stroke, ischemic10.3
17choroiditis10.3
18carotid artery occlusion10.3
19down syndrome10.3
20choroid disease10.3
21neurologic diseases10.3
22neurofibromatosis10.2
23renovascular hypertension10.2
24arteriovenous malformation10.2
25intracranial aneurysm10.2
26graves' disease10.2
27aortic disease10.2
28chromosomal disease10.2
29cerebellar disease10.2
30migraine10.2
31movement disease10.2
32arteriovenous fistula10.1
33diabetic ketoacidosis10.1
34brain compression10.1
35cerebral artery occlusion10.1
36sickle cell anemia10.1
37hereditary spherocytosis10.1
38astrocytoma10.1
39cervicitis10.1
40coronary stenosis10.1
41periostitis10.1
42thyrotoxicosis10.1
43dwarfism10.1
44sickle cell disease10.1
45moyamoya disease 410.1
46hepatitis c10.0TGIF1
47gingival overgrowth10.0NUDT6
48duodenal ulcer10.0TGIF1
49corneal neovascularization10.0FGF2, TIMP2
50myopia 610.0TGIF1, NUDT6

Graphical network of the top 20 diseases related to Moyamoya Disease:



Diseases related to moyamoya disease

Clinical Features for Moyamoya Disease

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

252350,607151,608796,614042

Symptoms:

48
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • cerebral vascular anomalies
  • dilated cerebral ventricles without hydrocephaly
  • autosomal recessive inheritance
  • vascular anomalies of skin/mucosae

Drugs & Therapeutics for Moyamoya Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Moyamoya Disease

Drug clinical trials:

Search ClinicalTrials for Moyamoya Disease

Search NIH Clinical Center for Moyamoya Disease

Search CenterWatch for Moyamoya Disease

Genetic Tests for Moyamoya Disease

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Anatomical Context for Moyamoya Disease

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32MalaCards
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MalaCards organs/tissues related to Moyamoya Disease:

32
Brain, Endothelial, Skin, Smooth muscle, Thyroid, Pituitary, Testes, Lung, Liver, Spinal cord, Cortex, Bone

Animal Models for Moyamoya Disease or affiliated genes

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Publications for Moyamoya Disease

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Sources:
50PubMed
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Articles related to Moyamoya Disease:

(show top 50)    (show all 558)
idTitleAuthorsYear
1
Moyamoya disease, revascularisation surgery and anaesthetic considerations. (24403389)
2014
2
Minocycline prevents focal neurological deterioration due to cerebral hyperperfusion after extracranial-intracranial bypass for moyamoya disease. (24176958)
2014
3
Clinical Course of Asymptomatic Adult Moyamoya Disease. (24435045)
2014
4
Effective surgical revascularization improves cerebral hemodynamics and resolves headache in pediatric Moyamoya disease. (23022638)
2013
5
Role of Burr Hole Surgery in Patients with Moyamoya Disease. (23920308)
2013
6
Less-Invasive Pedicled Omental-Cranial Transposition in Pediatric Patients with Moyamoya Disease and Failed Prior Revascularization. (23921707)
2013
7
A case of unilateral moyamoya disease suffered from intracerebral hemorrhage due to the rupture of cerebral aneurysm, which appeared seven years later. (23493840)
2013
8
Cerebral hyperperfusion syndrome after revascularization surgery in patients with moyamoya disease. (23461748)
2013
9
In reply. The genetics of moyamoya disease: recent insights into the pathogenesis of the disease. (23149962)
2013
10
Role of CT perfusion imaging in evaluating the effects of multiple burr hole surgery on adult ischemic Moyamoya disease. (24153446)
2013
11
Moyamoya disease misdiagnosed as leptomeningeal metastases. (23169511)
2012
12
Accurate estimation of motor symptoms by diffusion tensor imaging in a patient with advanced Moyamoya disease. (22366243)
2012
13
Terson syndrome caused by intraventricular hemorrhage associated with moyamoya disease. (22949967)
2012
14
Inheritance of moyamoya disease in a Caucasian family. (21974719)
2012
15
Posterior circulation and high prevalence of ischemic stroke among young pediatric patients with Moyamoya disease: evidence of angiography-based differences by age at diagnosis. (20801761)
2011
16
Moyamoya disease in children. (20932697)
2011
17
Radiation-induced moyamoya disease after childhood astrocytoma. (21783367)
2011
18
Long-term social outcome in children with moyamoya disease who have reached adulthood. (21882923)
2011
19
Ivy signs on FLAIR images before and after STA-MCA anastomosis in patients with Moyamoya disease. (21498365)
2011
20
Moyamoya disease and surgical intervention. (21191823)
2011
21
Surgical treatment and perioperative management of moyamoya disease associated with glycogen storage disease Type 1a. (21194280)
2011
22
Incidence and pathogenesis of transient cheiro-oral syndrome after surgical revascularization for moyamoya disease. (20881569)
2010
23
Presumed perinatal stroke in a child with Down syndrome and moyamoya disease. (19583743)
2010
24
Moyamoya disease. (20589474)
2010
25
Sydenham's chorea as a presentation of Moyamoya disease. (20434690)
2010
26
Assessment of cerebral perfusion from bypass arteries using magnetic resonance regional perfusion imaging in patients with moyamoya disease. (21191740)
2010
27
Endovascular embolization of distal anterior choroidal artery aneurysms associated with moyamoya disease. A report of two cases and a literature review. (21162774)
2010
28
Neurocognitive dysfunction in adult moyamoya disease. (20033200)
2010
29
Symptomatic Moyamoya disease: clinical features and outcome after indirect bypass surgery in four French adults. (19840882)
2010
30
Fetal radiation exposure and moyamoya disease. (20089408)
2010
31
Identification of novel biomarker candidates by proteomic analysis of cerebrospinal fluid from patients with moyamoya disease using SELDI-TOF-MS. (21059247)
2010
32
Moyamoya disease and arteriovenous fistula of the epiaortic vessels. (20526643)
2010
33
Decrease in leptomeningeal ivy sign on fluid-attenuated inversion recovery images after cerebral revascularization in patients with Moyamoya disease. (20466798)
2010
34
Moyamoya disease and moyamoya syndrome. (19571294)
2009
35
Clinical implications of cortical microvasculature in adult Moyamoya disease. (19491920)
2009
36
ACTA2 is not a major disease-causing gene for moyamoya disease. (19745835)
2009
37
Picture of the month--quiz case. Moyamoya disease. (19188651)
2009
38
Endovascular treatment of ruptured aneurysms or pseudoaneurysms on the collateral vessels in patients with moyamoya disease. (19834414)
2009
39
Unilateral hemispheric proliferation of ivy sign on fluid-attenuated inversion recovery images in moyamoya disease correlates highly with ipsilateral hemispheric decrease of cerebrovascular reserve. (19713323)
2009
40
Additional surgery for postoperative ischemic symptoms in patients with moyamoya disease: the effectiveness of occipital artery-posterior cerebral artery bypass with an indirect procedure: technical case report. (19145147)
2009
41
Effect of moyamoya disease on neuropsychological functioning in adults. (18580802)
2008
42
Pediatric moyamoya disease presenting with intracerebral hemorrhage--report of three cases and review of the literature. (18035479)
2008
43
Unilateral moyamoya disease associated with cerebellar arteriovenous malformation: one case report. (18706238)
2008
44
Microembolic signals are associated with progression of arterial lesion in Moyamoya disease: a case report. (17475282)
2007
45
Clinical and videoEEG findings in a girl with juvenile moyamoya disease. (17467941)
2007
46
Moyamoya disease with cerebral arteriovenous malformation presenting as primary subarachnoid hemorrhage. (17608912)
2007
47
Specific genetic characteristics in patients with familial moyamoya disease. (17904033)
2005
48
Moyamoya disease initially mimicking MELAS syndrome in a 14-month-old child. (15335122)
2004
49
Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. (9973290)
1999
50
Moyamoya disease associated with herpes zoster ophthalmicus: a case report with angiographic findings. (6602958)
1983

Genetic Variations for Moyamoya Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Moyamoya Disease:

62
id Symbol AA change Variation ID SNP ID
1RNF213p.Arg4810LysVAR_067030

Expression for genes affiliated with Moyamoya Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Moyamoya Disease

Search GEO for disease gene expression data for Moyamoya Disease.

Pathways for genes affiliated with Moyamoya Disease

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37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Moyamoya Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3FGF2, TIMP2
2
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10.3TIMP2, NUDT6, ACTA2
3
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10.2MMP12, TIMP4, TIMP2
4
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10.2FGF2, NUDT6, TIMP4, TIMP2
5
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10.2FGF2, NUDT6, TIMP4, TIMP2
6
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10.1TIMP2, TIMP4, NUDT6, FGF2, ACTA2
7
Hide members
10.1TIMP2, TIMP4, NUDT6, FGF2, ACTA2
8
Hide members
10.1TIMP2, TIMP4, NUDT6, FGF2, ACTA2
9
Hide members
10.1TIMP2, TIMP4, NUDT6, FGF2, ACTA2
10
Hide members
10.0TIMP2, TIMP4, NUDT6, FGF2, MMP12, ACTA2

Compounds for genes affiliated with Moyamoya Disease

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 2BitterDB, 24HMDB
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Compounds related to Moyamoya Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cmdb74410.5FGF2, TGIF1
2hydroxamate4410.4MMP12, TIMP4, TIMP2
35-methylthioadenosine4410.3FGF2, NUDT6
4doxycycline44 1111.3TGIF1, FGF2, NUDT6
5cytochalasin d44 5911.3TGIF1, ACTA2, FGF2, TIMP2
6matrigel4410.2TIMP2, NUDT6, FGF2, MMP12
7vegf4410.0TIMP2, NUDT6, FGF2, MMP12, TGIF1
8genistein44 28 59 2 11 2414.9TGIF1, MMP12, FGF2, TIMP2

GO Terms for genes affiliated with Moyamoya Disease

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16Gene Ontology
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Molecular functions related to Moyamoya Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase inhibitor activityGO:00819110.3TIMP4, TIMP2

Products for genes affiliated with Moyamoya Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Moyamoya Disease

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet