MYMY
MCID: MYM002
MIFTS: 57

Moyamoya Disease (MYMY) malady

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

Summaries for Moyamoya Disease

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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 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 3, is related to aneurysm and holoprosencephaly, 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 Angiogenesis and NF-KappaB Family Pathway. The compounds cmdb7 and 5-methylthioadenosine have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and smooth muscle.

OMIM:46 Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and... (607151) more...

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

Descriptions from OMIM:46 252350,608796,614042

Aliases & Classifications for Moyamoya Disease

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Sources:
9Disease Ontology, 10diseasecard, 42NIH Rare Diseases, 43NINDS, 46OMIM, 11DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 28ICD9CM, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
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Moyamoya Disease, Aliases & Descriptions:

Name: Moyamoya Disease 9 10 42 43 46 11 44 48 61
Moyamoya Disease 3 42 46 61
Moyamoya Disease 2 42 46 61
Spontaneous Occlusion of the Circle of Willis 42 61
Progressive Intracranial Arterial Occlusion 9 61
 
Moyamoya Disease 1 42 61
Moyamoya Syndrome 42 61
Mymy 42 61
Moyamoya Disease, Secondary 42
Moyamoya Disease, Primary 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology9 DOID:13099
MeSH34 D009072
NCIt39 C84895
SNOMED-CT56 69116000, 89142007
ICD9CM28 437.5
MESH via Orphanet35 C536991, D009072
ICD10 via Orphanet27 I67.5
UMLS via Orphanet62 C0026654, C2931384

Related Diseases for Moyamoya Disease

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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 156)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm31.0MMP12, TIMP2
2holoprosencephaly29.9SIX3, ZIC2, TGIF1
3cerebritis10.9
4ischemia10.4
5chorea10.4
6hypertension10.4
7moyamoya disease 510.4
8endotheliitis10.4
9moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism10.3
10hypertrophic scars10.3NUDT6, FGF2
11gastric ulcer10.3NUDT6, FGF2
12down syndrome10.3
13choroiditis10.3
14arteriovenous malformation10.3
15moyamoya 6 with achalasia10.3
16factor vii deficiency10.3FGF2, NUDT6
17corneal neovascularization10.2FGF2, TIMP2
18renovascular hypertension10.2
19carotid artery occlusion10.2
20neurofibromatosis10.2
21paroxysmal nocturnal hemoglobinuria10.2
22hemoglobinuria10.2
23protein c deficiency10.2
24keloids10.2TIMP2, FGF2
25myelofibrosis10.2TIMP2, FGF2
26myopia 610.2TGIF1, NUDT6
27graves' disease10.2
28intracranial aneurysm10.2
29headache10.2
30moyamoya disease 410.2
31proliferative diabetic retinopathy10.1TIMP2, FGF2
32craniopharyngioma10.1
33essential thrombocythemia10.1
34proliferative vitreoretinopathy10.1NUDT6, TIMP2, FGF2
35patau syndrome10.1ZIC2, SIX3
36bladder carcinoma10.1NUDT6, TIMP2, FGF2
37choriocarcinoma10.1TGIF1, TIMP2, NUDT6
38arteriovenous fistula10.1
39cerebral hemorrhage10.1
40sickle cell anemia10.1
41diabetic ketoacidosis10.1
42hereditary spherocytosis10.1
43noonan syndrome10.1
44astrocytoma10.1
45cerebrovascular disease10.1
46migraine10.1
47periostitis10.1
48thyrotoxicosis10.1
49dwarfism10.1
50hemiplegic migraine10.1

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



Diseases related to moyamoya disease

Symptoms for Moyamoya Disease

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Clinical features from OMIM:

252350,607151,608796,614042

Symptoms:

 48
  • 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:

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

Animal Models for Moyamoya Disease or affiliated genes

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Publications for Moyamoya Disease

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Articles related to Moyamoya Disease:

(show top 50)    (show all 556)
idTitleAuthorsYear
1
Moyamoya disease: A comparison of long term outcome of conservative and surgical treatment in India. (24183032)
2014
2
The collateral circulation in pediatric moyamoya disease. (25378261)
2014
3
Perfusion characteristics of moyamoya disease: an anatomically and clinically oriented analysis and comparison. (24193795)
2014
4
The natural clinical course of hemodynamically stable adult moyamoya disease. (25361479)
2014
5
Cerebral arteriovenous malformation associated with moyamoya disease. (25371789)
2014
6
The genetics of moyamoya disease: recent insights into the pathogenesis of the disease. (23149961)
2013
7
Hemodynamics and changes after STA-MCA anastomosis in moyamoya disease and atherosclerotic cerebrovascular disease measured by micro-Doppler ultrasonography. (23192651)
2013
8
Effective surgical revascularization improves cerebral hemodynamics and resolves headache in pediatric Moyamoya disease. (23022638)
2013
9
Rapid progression of cerebral infarction after intraventricular hemorrhage in adult moyamoya disease. (24379948)
2013
10
Moyamoya disease in a primarily white, midwestern US population: increased prevalence of autoimmune disease. (23652271)
2013
11
Incidence, locations, and longitudinal course of silent microbleeds in moyamoya disease: a prospective T2*-weighted MRI study. (23223508)
2013
12
Role of Burr Hole Surgery in Patients with Moyamoya Disease. (23920308)
2013
13
Effect of delayed transit time on arterial spin labeling: correlation with dynamic susceptibility contrast perfusion magnetic resonance in moyamoya disease. (23764569)
2013
14
Moyamoya disease with exaggerated startle response: A rare co-occurrence. (24339629)
2013
15
Prevalence and characteristics of concurrent down syndrome in patients with moyamoya disease. (23149966)
2013
16
Impaired dynamic cerebral autoregulation in Moyamoya disease. (23731503)
2013
17
Lessons learned from moyamoya disease: outcome of direct/indirect revascularization surgery for 150 affected hemispheres. (22688070)
2012
18
Posterior auricular artery-middle cerebral artery bypass for additional surgery of moyamoya disease. (22089809)
2012
19
Sex differences in clinical presentation and treatment outcomes in Moyamoya disease. (22718024)
2012
20
Clinical features, surgical treatment and long-term outcome in adult patients with Moyamoya disease in China. (23146868)
2012
21
History of the development of surgical treatments for moyamoya disease. (22688063)
2012
22
Acute cerebral ischemia after intracranial bleeding in unilateral moyamoya disease: case report. (22688074)
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
Differences in cellular responses to mitogens in arterial smooth muscle cells derived from patients with moyamoya disease. (9626293)
1998
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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UniProtKB/Swiss-Prot genetic disease variations for Moyamoya Disease:

63
id Symbol AA change Variation ID SNP ID
1RNF213p.Arg4810LysVAR_067030

Clinvar genetic disease variations for Moyamoya Disease:

7
id Gene Name 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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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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Pathways related to Moyamoya Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Angiogenesis37
9.7FGF2, TIMP2
2
Show member pathways
9.4FGF2, TIMP2, NUDT6
3
Show member pathways
9.2FGF2, MMP12, TIMP2
4
Show member pathways
9.1NUDT6, TIMP2, ACTA2, FGF2
5
Show member pathways
9.1NUDT6, TIMP2, ACTA2, FGF2
6
Show member pathways
9.1NUDT6, TIMP2, ACTA2, FGF2
7
Show member pathways
9.1NUDT6, TIMP2, ACTA2, FGF2
8
Show member pathways
9.1NUDT6, TIMP2, ACTA2, FGF2
9
Show member pathways
8.7FGF2, ACTA2, MMP12, TIMP2, NUDT6

Compounds for genes affiliated with Moyamoya Disease

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Compounds related to Moyamoya Disease according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1cmdb74410.1FGF2, TGIF1
25-methylthioadenosine4410.1FGF2, NUDT6
3doxycycline44 1210.8NUDT6, TGIF1, FGF2
4agar449.7NUDT6, TGIF1, FGF2
5hydroxamate449.6MMP12, TIMP2
6ribonucleic acid449.4TGIF1, TIMP2, NUDT6
7cytochalasin d44 6010.4FGF2, ACTA2, TGIF1, TIMP2
8ascorbic acid44 2510.3TIMP2, TGIF1, FGF2
9thymidine44 2510.3NUDT6, TIMP2, TGIF1, FGF2
10batimastat44 60 1211.2TIMP2, MMP12
11matrigel449.2NUDT6, TIMP2, MMP12, FGF2
12genistein44 29 60 3 25 1214.1TIMP2, TGIF1, MMP12, FGF2
13nitric oxide44 25 1210.9MMP12, TGIF1, TIMP2, NUDT6
14vegf448.8FGF2, MMP12, TGIF1, TIMP2, NUDT6
15zinc44 259.7ZIC2, MMP12, TGIF1, TIMP2

GO Terms for genes affiliated with Moyamoya Disease

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Biological processes related to Moyamoya Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:0301989.2FGF2, MMP12, TIMP2

Products for genes affiliated with Moyamoya Disease

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Sources for Moyamoya Disease

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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