MCID: MYM002
MIFTS: 51

Moyamoya Disease malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases categories

Summaries for Moyamoya Disease

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NIH Rare Diseases:41 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 aneurysm and holoprosencephaly, and has symptoms including seizures, ventriculomegaly and cognitive impairment. An important gene associated with Moyamoya Disease is ACTA2 (actin, alpha 2, smooth muscle, aorta), and among its related pathways are Transcription factors in neurogenesis and Angiogenesis. The compounds cmdb7 and 5-methylthioadenosine have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and skin, and related mouse phenotype nervous system.

Disease Ontology:9 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.

OMIM:45 Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion... (252350) more...

NINDS:42 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...

Aliases & Classifications for Moyamoya Disease

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 38NCIt, 27ICD9CM, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Moyamoya Disease, Aliases & Descriptions:

Name: Moyamoya Disease 45 9 10 41 42 11 43 47 60
Moyamoya Disease 1 41 60
Moyamoya Disease 3 41 60
Moyamoya Disease 2 41 60
Spontaneous Occlusion of the Circle of Willis 41
 
Progressive Intracranial Arterial Occlusion 9
Moyamoya Disease, Secondary 41
Moyamoya Disease, Primary 41
Moyamoya Syndrome 41
Mymy 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
moyamoya disease:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (France); Age of onset: All ages


External Ids:

OMIM45 252350
Disease Ontology9 DOID:13099
NCIt38 C84895
ICD9CM27 437.5
MeSH33 D009072
SNOMED-CT55 89142007, 69116000
Orphanet47 2573
MESH via Orphanet34 C536991, D009072
ICD10 via Orphanet26 I67.5
UMLS via Orphanet61 C0026654, C2931384
ICD1025 I67.5

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 156)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm31.0TIMP2, MMP12
2holoprosencephaly29.8SIX3, ZIC2, TGIF1
3cerebritis10.9
4moyamoya disease 510.4
5ischemia10.4
6moyamoya disease 310.4
7moyamoya disease 210.4
8endotheliitis10.4
9neurofibromatosis10.3
10choroiditis10.3
11arteriovenous malformation10.3
12down syndrome10.3
13hypertrophic scars10.3NUDT6, FGF2
14gastric ulcer10.3FGF2, NUDT6
15migraine10.2
16neurofibromatosis, type 110.2
17renovascular hypertension10.2
18carotid artery occlusion10.2
19graves' disease10.2
20intracranial aneurysm10.2
21headache10.2
22moyamoya disease with early-onset achalasia10.2
23factor vii deficiency10.2FGF2, NUDT6
24chronic ulcer of skin10.2FGF2, TIMP2
25paroxysmal nocturnal hemoglobinuria10.2
26protein c deficiency10.2
27hemoglobinuria10.2
28corneal neovascularization10.2TIMP2, FGF2
29moyamoya 6 with achalasia10.2
30hemiplegic migraine10.2
31moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism10.2
32cerebral arteriovenous malformation10.2
33keloids10.2TIMP2, FGF2
34myelofibrosis10.2TIMP2, FGF2
35myopia10.2TGIF1, NUDT6
36microvascular complications of diabetes 110.1FGF2, TIMP2
37craniopharyngioma10.1
38essential thrombocythemia10.1
39patau syndrome10.1SIX3, ZIC2
40sickle cell anemia10.1
41arteriovenous fistula10.1
42cerebral hemorrhage10.1
43diabetic ketoacidosis10.1
44hereditary spherocytosis10.1
45astrocytoma10.1
46cerebrovascular disease10.1
47cervicitis10.1
48periostitis10.1
49thyrotoxicosis10.1
50vaginitis10.1

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:

 47
  • 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 7)
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 autosomal recessive inheritance HP:0000007
6 telangiectasia HP:0001009
7 inflammatory arteriopathy HP:0005291

Drugs & Therapeutics for Moyamoya Disease

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Drug clinical trials:

Search ClinicalTrials for Moyamoya Disease

Search NIH Clinical Center for 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:

31
Brain, Endothelial, Skin, Smooth muscle, Thyroid, Pituitary, Bone, Cortex, Spinal cord, Heart, Liver, Testes, Neutrophil

Animal Models for Moyamoya Disease or affiliated genes

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MGI Mouse Phenotypes related to Moyamoya Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.8FGF2, SIX3, ZIC2, MMP12, TGIF1, TIMP2

Publications for Moyamoya Disease

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Articles related to Moyamoya Disease:

(show top 50)    (show all 579)
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
Moyamoya disease: A comparison of long term outcome of conservative and surgical treatment in India. (24183032)
2014
4
The collateral circulation in pediatric moyamoya disease. (25378261)
2014
5
Perfusion characteristics of moyamoya disease: an anatomically and clinically oriented analysis and comparison. (24193795)
2014
6
The natural clinical course of hemodynamically stable adult moyamoya disease. (25361479)
2014
7
Cerebral arteriovenous malformation associated with moyamoya disease. (25371789)
2014
8
The genetics of moyamoya disease: recent insights into the pathogenesis of the disease. (23149961)
2013
9
Hemodynamics and changes after STA-MCA anastomosis in moyamoya disease and atherosclerotic cerebrovascular disease measured by micro-Doppler ultrasonography. (23192651)
2013
10
Effective surgical revascularization improves cerebral hemodynamics and resolves headache in pediatric Moyamoya disease. (23022638)
2013
11
Rapid progression of cerebral infarction after intraventricular hemorrhage in adult moyamoya disease. (24379948)
2013
12
Moyamoya disease in a primarily white, midwestern US population: increased prevalence of autoimmune disease. (23652271)
2013
13
Incidence, locations, and longitudinal course of silent microbleeds in moyamoya disease: a prospective T2*-weighted MRI study. (23223508)
2013
14
Role of Burr Hole Surgery in Patients with Moyamoya Disease. (23920308)
2013
15
Effect of delayed transit time on arterial spin labeling: correlation with dynamic susceptibility contrast perfusion magnetic resonance in moyamoya disease. (23764569)
2013
16
Moyamoya disease with exaggerated startle response: A rare co-occurrence. (24339629)
2013
17
Prevalence and characteristics of concurrent down syndrome in patients with moyamoya disease. (23149966)
2013
18
Impaired dynamic cerebral autoregulation in Moyamoya disease. (23731503)
2013
19
Lessons learned from moyamoya disease: outcome of direct/indirect revascularization surgery for 150 affected hemispheres. (22688070)
2012
20
Posterior auricular artery-middle cerebral artery bypass for additional surgery of moyamoya disease. (22089809)
2012
21
Sex differences in clinical presentation and treatment outcomes in Moyamoya disease. (22718024)
2012
22
Clinical features, surgical treatment and long-term outcome in adult patients with Moyamoya disease in China. (23146868)
2012
23
History of the development of surgical treatments for moyamoya disease. (22688063)
2012
24
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
25
Increased levels of circulating SDF-1I+ and CD34+ CXCR4+ cells in patients with moyamoya disease. (21435112)
2011
26
Neurocognitive profiles of children with moyamoya disease before and after surgical intervention. (21178347)
2011
27
Association of a functional polymorphism in the MMP-3 gene with Moyamoya Disease in the Chinese Han population. (20948207)
2010
28
Fatal massive cerebral infarctions in a young patient with diabetic ketoacidosis--a rare case of atherosclerotic moyamoya disease. (19917648)
2010
29
Decreased level and defective function of circulating endothelial progenitor cells in children with moyamoya disease. (19774676)
2010
30
Endovascular treatment of intracranial aneurysms associated with moyamoya disease or moyamoya syndrome. (20977854)
2010
31
Incidence and pathogenesis of transient cheiro-oral syndrome after surgical revascularization for moyamoya disease. (20881569)
2010
32
Presumed perinatal stroke in a child with Down syndrome and moyamoya disease. (19583743)
2010
33
Computed tomographic perfusion in assessing postoperative revascularization in moyamoya disease. (20860934)
2010
34
Moyamoya disease: a clinical spectrum, literature review and case series from a tertiary care hospital in Pakistan. (19368734)
2009
35
Moyamoya disease: case report and literature review. (19861596)
2009
36
Surgical management of moyamoya disease: a review. (19335133)
2009
37
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
38
Moyamoya disease and moyamoya syndrome. (19571294)
2009
39
Increased levels of circulating endothelial progenitor cells in patients with Moyamoya disease. (19095988)
2009
40
Increased expression of serum Matrix Metalloproteinase-9 in patients with moyamoya disease. (19147196)
2009
41
Circulating endothelial progenitor cells as a pathogenetic marker of moyamoya disease. (18612318)
2008
42
Effect of preoperative skull block on pediatric moyamoya disease. (18590393)
2008
43
Moyamoya disease associated with hemoglobin Fairfax and beta-thalassemia. (18206795)
2008
44
Moyamoya disease and aortic coarctation in a patient with common brachiocephalic trunk. (17347086)
2007
45
Case of moyamoya disease in a patient with advanced acquired immunodeficiency syndrome. (18035245)
2007
46
Sudden cortical blindness in an adult with moyamoya disease. (17320646)
2007
47
Stenosis of the proximal external carotid artery in an adult with moyamoya disease: moyamoya or atherosclerotic change? (17721051)
2007
48
Basal meningoencephalocele, anomaly of optic disc and panhypopituitarism in association with moyamoya disease. (11070437)
2000
49
Angiogenic factors in moyamoya disease. (8969773)
1996
50
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

Variations for Moyamoya Disease

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Clinvar genetic disease variations for Moyamoya Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ACTA2NM_001141945.1(ACTA2): c.773G> A (p.Arg258His)single nucleotide variantPathogenicrs121434527GRCh37Chr 10, 90699299: 90699299
2ACTA2NM_001141945.1(ACTA2): c.772C> T (p.Arg258Cys)single nucleotide variantPathogenicrs121434528GRCh37Chr 10, 90699300: 90699300
3ACTA2NM_001141945.1(ACTA2): c.536G> A (p.Arg179His)single nucleotide variantPathogenicrs387906592GRCh37Chr 10, 90701066: 90701066
4RNF213RNF213, ARG4859LYSsingle nucleotide variantrisk factor
5NM_001256071.2(RNF213): c.14429G> A (p.Arg4810Lys)single nucleotide variantrisk factorrs112735431GRCh37Chr 17, 78358945: 78358945
6NM_001256071.2(RNF213): c.12037G> A (p.Asp4013Asn)single nucleotide variantrisk factorrs397514563GRCh37Chr 17, 78341825: 78341825

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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Pathways related to Moyamoya Disease according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Angiogenesis36
9.5FGF2, TIMP2
2
Show member pathways
9.3TIMP2, MMP12
3
Show member pathways
9.2FGF2, TIMP2, NUDT6
4
Show member pathways
9.2NUDT6, TIMP2, FGF2
5
Show member pathways
9.0FGF2, MMP12, TIMP2
6
Show member pathways
9.0NUDT6, TIMP2, ACTA2, FGF2
7
Show member pathways
9.0NUDT6, TIMP2, ACTA2, FGF2
8
Show member pathways
9.0NUDT6, TIMP2, ACTA2, FGF2
9
Show member pathways
9.0NUDT6, TIMP2, ACTA2, FGF2
10
Show member pathways
9.0FGF2, ACTA2, TIMP2, NUDT6
11
Show member pathways
8.5FGF2, ACTA2, MMP12, TIMP2, NUDT6

Compounds for genes affiliated with Moyamoya Disease

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Compounds related to Moyamoya Disease according to GeneCards Suite gene sharing:

(show all 21)
idCompoundScoreTop Affiliating Genes
1cmdb74310.1FGF2, TGIF1
25-methylthioadenosine4310.1FGF2, NUDT6
3doxycycline43 1210.8FGF2, TGIF1, NUDT6
4agar439.8FGF2, TGIF1, NUDT6
5hydroxamate439.6TIMP2, MMP12
6amphetamine43 49 1211.6FGF2, NUDT6
7ribonucleic acid439.4NUDT6, TIMP2, TGIF1
8batimastat43 59 1211.4TIMP2, MMP12
9progestins439.4TGIF1, TIMP2
10ascorbic acid43 2410.4FGF2, TGIF1, TIMP2
11cytochalasin d43 5910.3FGF2, ACTA2, TGIF1, TIMP2
12pd 98,059439.2NUDT6, TIMP2, FGF2
13thymidine43 2410.2NUDT6, TIMP2, TGIF1, FGF2
14matrigel439.0NUDT6, TIMP2, MMP12, FGF2
15genistein43 28 59 2 24 1214.0FGF2, MMP12, TGIF1, TIMP2
16retinoic acid43 249.9FGF2, TGIF1, TIMP2, NUDT6
17nitric oxide43 24 1210.9NUDT6, TIMP2, TGIF1, MMP12
18zinc43 249.7TIMP2, TGIF1, MMP12, ZIC2
19vegf438.7NUDT6, TIMP2, TGIF1, MMP12, FGF2
20serine438.5FGF2, MMP12, TGIF1, TIMP2, NUDT6
21tyrosine438.4FGF2, MMP12, TGIF1, TIMP2, NUDT6

GO Terms for genes affiliated with Moyamoya Disease

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:00301989.0FGF2, MMP12, TIMP2

Products for genes affiliated with Moyamoya Disease

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Sources for Moyamoya Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet