MCID: MYM002
MIFTS: 62

Moyamoya Disease malady

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

Aliases & Classifications for Moyamoya Disease

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Sources:
45NIH Rare Diseases, 65UMLS, 49OMIM, 10Disease Ontology, 11diseasecard, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Moyamoya Disease:

Name: Moyamoya Disease 49 10 11 45 23 46 47 12 51 36 65
Moyamoya Disease 1 45 24 65
Spontaneous Occlusion of the Circle of Willis 45 23
Progressive Intracranial Arterial Occlusion 10 23
Moyamoya Disease 3 45 65
Moyamoya Disease 2 45 65
Progressive Intracranial Occlusive Arteropathy 23
 
Cerebrovascular Moyamoya Disease 23
Moyamoya Disease, Secondary 45
Moyamoya Disease, Primary 45
Moyamoya Syndrome 45
Moya-Moya Disease 23
Mymy 45

Characteristics:

Orphanet epidemiological data:

51
moyamoya disease:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (France); Age of onset: All ages

HPO:

61
moyamoya disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 252350
Disease Ontology10 DOID:13099
ICD1027 I67.5
ICD9CM29 437.5
MeSH36 D009072
SNOMED-CT59 69116000, 89142007
NCIt42 C84895
Orphanet51 2573
UMLS via Orphanet66 C0026654, C2931384
ICD10 via Orphanet28 I67.5
MESH via Orphanet37 C536991, D009072
UMLS65 C0026654, C2931384, C1846689 C1837418, more

Summaries for Moyamoya Disease

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NIH Rare Diseases:45 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 tangled vessels that form to compensate for the blockage. this condition usually affects children, but can affect adults. affected people are at increased risk for blood clots, strokes, and transient ischemic attacks (tias) which are frequently accompanied by seizures and muscular weakness, or paralysis on one side of the body. affected people may also have disturbed consciousness, speech deficits (usually aphasia), sensory and cognitive impairments, involuntary movements, and vision problems. researchers believe that moyamoya disease is an inherited condition because it tends to run in families.moyamoya syndrome is a related term that refers to cases of moyamoya disease that occur in association with other conditions or risk factors, such as neurofibromatosis, tuberculosis meningitis, sickle cell disease, leptospirosis, brain tumors, sturge-weber syndrome, and tuberous sclerosis. last updated: 7/1/2014

MalaCards based summary: Moyamoya Disease, also known as moyamoya disease 1, is related to pulmonary sarcoidosis and myocardial infarction, and has symptoms including seizures, ventriculomegaly and cognitive impairment. An important gene associated with Moyamoya Disease is RNF213 (Ring Finger Protein 213), and among its related pathways are Matrix Metalloproteinases and Cell adhesion_ECM remodeling. Affiliated tissues include brain, testes and heart, and related mouse phenotypes are muscle and limbs/digits/tail.

Disease Ontology:10 A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.

NINDS:46 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.

Genetics Home Reference:23 Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: "moyamoya" is an expression meaning "something hazy like a puff of smoke" in Japanese.

OMIM:49 Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion... (252350) more...

Wikipedia:68 Moyamoya syndrome is a disease in which certain arteries in the brain are constricted. Blood flow is... more...

Related Diseases for Moyamoya Disease

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Diseases in the Moyamoya Disease family:

Moyamoya Disease 3 Moyamoya Disease 5
Moyamoya Disease 2

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

(show top 50)    (show all 165)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary sarcoidosis29.3HGF, MMP9, TGFB1
2myocardial infarction27.1GUCY1A3, HGF, KDR, MMP3, MTHFR, VEGFA
3moyamoya disease 512.2
4moyamoya disease 212.2
5moyamoya disease 312.2
6moyamoya disease with early-onset achalasia12.1
7moyamoya 6 with achalasia11.5
8moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome10.9
9entropion10.7MMP3, MMP9
10anterior cerebral artery infarction10.6ACTA2, GUCY1A3, RNF213
11spastic quadriplegia10.6ACTA2, GUCY1A3, RNF213
12neurofibromatosis, type 210.6MMP3, MMP9
13cerebritis10.6
14immunodeficiency 27b, mycobacteriosis, ad10.6MMP3, MMP9
15anterograde amnesia10.5MMP3, MMP9, TIMP2
16conjunctival disease10.5MMP3, MMP9, TIMP2
17septicemic plague10.5MMP3, MMP9
18renal pelvis adenocarcinoma10.4MMP9, VEGFA
19bladder urachal adenocarcinoma10.4MMP3, MMP9, TIMP2
20ganglion or cyst of synovium/tendon/bursa10.4MMP9, VEGFA
21gastric squamous cell carcinoma10.4MMP9, TIMP2
22papillary craniopharyngioma10.4MMP9, VEGFA
23aneurysm10.3
24common bile duct neoplasm10.3MMP9, TIMP2, VEGFA
25adenosarcoma of the uterus10.3MMP9, TIMP2, VEGFA
26lower lip cancer10.3MMP3, MMP9, VEGFA
27angioimmunoblastic lymphadenopathy with dysproteinemia10.3MTHFR, SIX3
28pelizaeus-merzbacher-like disease due to gjc2 mutation10.3SIX3, ZIC2
29alobar holoprosencephaly10.2SIX3, ZIC2
30hemiplegia alterans10.2MTHFR, VEGFA
31spasticity-intellectual disability-x-linked epilepsy syndrome10.2SIX3, ZIC2
32hypothalamic disease10.2MMP9, TGFB1, VEGFA
33x-linked dominant intellectual disability-epilepsy syndrome10.2SIX3, ZIC2
34tenosynovitis of foot and ankle10.2MMP9, TGFB1, VEGFA
35hepatocellular adenoma10.2MMP9, TGFB1, VEGFA
36cell type cancer10.1MMP9, TGFB1, VEGFA
37epididymis cancer10.1HGF, MMP9
38exudative vitreoretinopathy 110.1HGF, TGFB1, TIMP2
39ischemia10.1
40endotheliitis10.1
41mitochondrial metabolism disease10.0MMP9, TGFB1, VEGFA
42grade iii astrocytoma10.0MMP3, MMP9
43neurofibromatosis10.0
44x-linked intellectual disability, hedera type10.0SIX3, ZIC2
45chronic venous leg ulcers10.0HGF, VEGFA
46neurofibromatosis, type 110.0
47arteriovenous malformation10.0
48choroiditis10.0
49graves' disease10.0
50down syndrome10.0

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



Diseases related to moyamoya disease

Symptoms for Moyamoya Disease

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Symptoms by clinical synopsis from OMIM:

252350

Clinical features from OMIM:

252350

Symptoms:

 51
  • vascular anomalies of skin/mucosae
  • autosomal recessive inheritance
  • dilated cerebral ventricles without hydrocephaly
  • cerebral vascular anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Moyamoya Disease:

(show all 6)
id Description Frequency HPO Source Accession
1 seizures typical (50%) HP:0001250
2 ventriculomegaly typical (50%) HP:0002119
3 cognitive impairment typical (50%) HP:0100543
4 abnormality of the cerebral vasculature typical (50%) HP:0100659
5 inflammatory arteriopathy HP:0005291
6 telangiectasia HP:0001009

Drugs & Therapeutics for Moyamoya Disease

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Drugs for Moyamoya Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
XylometazolineapprovedPhase 366526-36-35709
Synonyms:
 
Balminil
Xylomethazoline
2
Sevofluraneapproved42928523-86-65206
Synonyms:
1,1,1,3,3,3-Hexafluoro-2-(fluoromethoxy)propane
28523-86-6
AC-15484
AC1L1JU0
BRN 2041023
Bax 3084
C009250
C07520
C4H3F7O
CHEBI:9130
CHEMBL1200694
CID5206
D00547
DB01236
F0691
Fluoromethyl 1,1,1,3,3,3-Hexafluoroisopropyl Ether
Fluoromethyl 2,2,2-trifluoro-1-(trifluoromethyl)ethyl ether
I14-13357
LS-67851
MR6S4
 
MR_6S4
MolPort-001-775-746
NCGC00167421-01
PC4681
Sevofluran
Sevoflurane
Sevoflurane (JAN/USAN/INN)
Sevoflurane [USAN:INN:BAN:JAN]
Sevoflurano
Sevoflurano [INN-Spanish]
Sevofluranum
Sevofluranum [INN-Latin]
Sevofrane
Sevorane
Sojourn
UNII-38LVP0K73A
Ultane
Ultane (TN)
ZINC01530810
fluoromethyl hexafluoroisopropyl ether
fluoromethyl-2,2,2-trifluoro-1-(trifluoromethyl)ethyl ether
sevoflurane
3Xenon59
4Vasodilator Agents2926
5Antihypertensive Agents3618
6Anticonvulsants2249
7Platelet Aggregation Inhibitors1935
8Central Nervous System Depressants10016
9Anesthetics7385
10Anesthetics, General2274
11Anesthetics, Inhalation511

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1The Adult Hemorrhagic Moyamoya Surgery StudyActive, not recruitingNCT02319980Phase 3
2Quantifying Collateral Perfusion in Cerebrovascular Disease-Moyamoya Disease and Stroke PatientsCompletedNCT01419275
3Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic StrokeRecruitingNCT02074111
4Characteristics and Outcomes of Childhood Moyamoya in the UKRecruitingNCT02434302
5Neurocognitive and Radiological Assessments in Adult Moyamoya Undergoing SurgeryRecruitingNCT02305407
6Subclavian Vein catheterization_Seldinger Vs Modified SeldingerRecruitingNCT02090010
7Stroke Imaging Package StudyRecruitingNCT02485275
8Characterizing Hemodynamic Compensation in Patients With Intracranial StenosisRecruitingNCT02506907
9The Role of Cerebral Hemodynamics in Moyamoya DiseaseActive, not recruitingNCT00629915
10Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE SyndromeActive, not recruitingNCT01018082
11Sevoflurane and Hyperperfusion SyndromeNot yet recruitingNCT02510586

Search NIH Clinical Center for Moyamoya Disease


Cochrane evidence based reviews: moyamoya disease

Genetic Tests for Moyamoya Disease

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Anatomical Context for Moyamoya Disease

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MalaCards organs/tissues related to Moyamoya Disease:

33
Brain, Testes, Heart, Endothelial, T cells, Prostate, Breast

Animal Models for Moyamoya Disease or affiliated genes

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MGI Mouse Phenotypes related to Moyamoya Disease:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5ACTA2, GUCY1A3, KDR, MMP9, RPTOR, TGFB1
2MP:00053718.4CRABP1, MMP9, MTHFR, RAI1, VEGFA, ZIC2
3MP:00053888.2GUCY1A3, KDR, MMP9, RAI1, SHOC2, SIX3
4MP:00053808.0HGF, KDR, RPTOR, SHOC2, SIX3, TGFB1
5MP:00053917.9ACTA2, GUCY1A3, KDR, MMP9, MTHFR, SIX3
6MP:00053857.1ACTA2, GUCY1A3, HGF, KDR, MMP9, RNF213
7MP:00036316.9GUCY1A3, KDR, MMP3, MMP9, MTHFR, RAI1
8MP:00053766.8GUCY1A3, KDR, MMP3, MMP9, MTHFR, RAI1
9MP:00053906.8KDR, MMP3, MMP9, MTHFR, RAI1, RPTOR
10MP:00053786.3HGF, KDR, MMP9, MTHFR, RAI1, RNF213
11MP:00107685.8CRABP1, GUCY1A3, HGF, KDR, MMP9, MTHFR

Publications for Moyamoya Disease

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Articles related to Moyamoya Disease:

(show top 50)    (show all 639)
idTitleAuthorsYear
1
Surgical Management of Giant Basilar Tip Aneurysm Associated with Moyamoya Disease: A Case Report and Literature Review. (25862110)
2015
2
Coronary heart disease in moyamoya disease: are they concomitant or coincidence? (25829816)
2015
3
Pretransplant management of basilar artery aneurysm and moyamoya disease in a child with Alagille syndrome. (26043700)
2015
4
Moyamoya disease: A comparison of long term outcome of conservative and surgical treatment in India. (24183032)
2014
5
The collateral circulation in pediatric moyamoya disease. (25378261)
2014
6
Perfusion characteristics of moyamoya disease: an anatomically and clinically oriented analysis and comparison. (24193795)
2014
7
The natural clinical course of hemodynamically stable adult moyamoya disease. (25361479)
2014
8
The roles of methylenetetrahydrofolate reductase 677C>T and 1298A>C polymorphisms in moyamoya disease patients. (25098357)
2014
9
Cerebral arteriovenous malformation associated with moyamoya disease. (25371789)
2014
10
The genetics of moyamoya disease: recent insights into the pathogenesis of the disease. (23149961)
2013
11
Hemodynamics and changes after STA-MCA anastomosis in moyamoya disease and atherosclerotic cerebrovascular disease measured by micro-Doppler ultrasonography. (23192651)
2013
12
Effective surgical revascularization improves cerebral hemodynamics and resolves headache in pediatric Moyamoya disease. (23022638)
2013
13
Rapid progression of cerebral infarction after intraventricular hemorrhage in adult moyamoya disease. (24379948)
2013
14
Moyamoya disease in a primarily white, midwestern US population: increased prevalence of autoimmune disease. (23652271)
2013
15
Incidence, locations, and longitudinal course of silent microbleeds in moyamoya disease: a prospective T2*-weighted MRI study. (23223508)
2013
16
Role of Burr Hole Surgery in Patients with Moyamoya Disease. (23920308)
2013
17
Effect of delayed transit time on arterial spin labeling: correlation with dynamic susceptibility contrast perfusion magnetic resonance in moyamoya disease. (23764569)
2013
18
Moyamoya disease with exaggerated startle response: A rare co-occurrence. (24339629)
2013
19
Prevalence and characteristics of concurrent down syndrome in patients with moyamoya disease. (23149966)
2013
20
Lessons learned from moyamoya disease: outcome of direct/indirect revascularization surgery for 150 affected hemispheres. (22688070)
2012
21
Posterior auricular artery-middle cerebral artery bypass for additional surgery of moyamoya disease. (22089809)
2012
22
Sex differences in clinical presentation and treatment outcomes in Moyamoya disease. (22718024)
2012
23
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
24
Increased levels of circulating SDF-1I+ and CD34+ CXCR4+ cells in patients with moyamoya disease. (21435112)
2011
25
Neurocognitive profiles of children with moyamoya disease before and after surgical intervention. (21178347)
2011
26
Association of a functional polymorphism in the MMP-3 gene with Moyamoya Disease in the Chinese Han population. (20948207)
2010
27
Fatal massive cerebral infarctions in a young patient with diabetic ketoacidosis--a rare case of atherosclerotic moyamoya disease. (19917648)
2010
28
Decreased level and defective function of circulating endothelial progenitor cells in children with moyamoya disease. (19774676)
2010
29
Endovascular treatment of intracranial aneurysms associated with moyamoya disease or moyamoya syndrome. (20977854)
2010
30
Incidence and pathogenesis of transient cheiro-oral syndrome after surgical revascularization for moyamoya disease. (20881569)
2010
31
Presumed perinatal stroke in a child with Down syndrome and moyamoya disease. (19583743)
2010
32
Computed tomographic perfusion in assessing postoperative revascularization in moyamoya disease. (20860934)
2010
33
Moyamoya disease: a clinical spectrum, literature review and case series from a tertiary care hospital in Pakistan. (19368734)
2009
34
Moyamoya disease: case report and literature review. (19861596)
2009
35
Surgical management of moyamoya disease: a review. (19335133)
2009
36
Laser Doppler flowmeter study on regional cerebral blood flow in early stage after standard superficial temporal artery-middle cerebral artery bypass surgery for moyamoya disease. (20079151)
2009
37
Moyamoya disease and moyamoya syndrome. (19571294)
2009
38
Increased levels of circulating endothelial progenitor cells in patients with Moyamoya disease. (19095988)
2009
39
Increased expression of serum Matrix Metalloproteinase-9 in patients with moyamoya disease. (19147196)
2009
40
Circulating endothelial progenitor cells as a pathogenetic marker of moyamoya disease. (18612318)
2008
41
Effect of preoperative skull block on pediatric moyamoya disease. (18590393)
2008
42
Moyamoya disease associated with hemoglobin Fairfax and beta-thalassemia. (18206795)
2008
43
Moyamoya disease and aortic coarctation in a patient with common brachiocephalic trunk. (17347086)
2007
44
Case of moyamoya disease in a patient with advanced acquired immunodeficiency syndrome. (18035245)
2007
45
Sudden cortical blindness in an adult with moyamoya disease. (17320646)
2007
46
Stenosis of the proximal external carotid artery in an adult with moyamoya disease: moyamoya or atherosclerotic change? (17721051)
2007
47
Basal meningoencephalocele, anomaly of optic disc and panhypopituitarism in association with moyamoya disease. (11070437)
2000
48
Angiogenic factors in moyamoya disease. (8969773)
1996
49
Iodine-123 IMP SPECT before and after bypass surgery in a patient with occlusion of left anterior and middle cerebral arteries with basal abnormal telangiectasis (unilateral Moyamoya disease). (3275095)
1987
50

Variations for Moyamoya Disease

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Expression for genes affiliated with Moyamoya Disease

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Search GEO for disease gene expression data for Moyamoya Disease.

Pathways for genes affiliated with Moyamoya Disease

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GO Terms for genes affiliated with Moyamoya Disease

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Biological processes related to Moyamoya Disease according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell differentiationGO:007030610.3SIX3, TGFB1
2positive regulation of protein complex assemblyGO:003133410.3TGFB1, VEGFA
3positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.3TGFB1, VEGFA
4negative regulation of mitotic cell cycleGO:004593010.2TGFB1, TIMP2
5cell migration involved in sprouting angiogenesisGO:000204210.2KDR, VEGFA
6positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathwayGO:003803310.2KDR, VEGFA
7positive regulation of blood vessel endothelial cell migrationGO:004353610.1TGFB1, VEGFA
8extracellular matrix disassemblyGO:00226179.7MMP3, MMP9, TIMP2
9positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.6HGF, TGFB1, VEGFA
10platelet degranulationGO:00025769.5HGF, TGFB1, VEGFA
11blood coagulationGO:00075969.2GUCY1A3, HGF, TGFB1, VEGFA
12positive regulation of cell migrationGO:00303359.2HGF, TGFB1, VEGFA
13positive regulation of angiogenesisGO:00457668.9HGF, KDR, VEGFA

Sources for Moyamoya Disease

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet