MYMY
MCID: MYM002
MIFTS: 56

Moyamoya Disease (MYMY) malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases categories
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Summaries for Moyamoya Disease

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43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Moyamoya Disease, also known as moyamoya disease 3, is related to aneurysm and holoprosencephaly, 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 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 skin.

NINDS:44 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:65 Moyamoya syndrome is a disease in which certain arteries in the brain are constricted. Blood flow is... more...

Description from OMIM:47 252350,607151,608796,614042

Aliases & Classifications for Moyamoya Disease

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 58SNOMED-CT, 35MeSH, 40NCIt, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
moyamoya disease:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/1000000; Age of onset: Variable


Aliases & Descriptions:

moyamoya disease 8 9 43 44 47 10 45 49 62
moyamoya disease 3 43 47 62
moyamoya disease 2 43 47 62
moyamoya disease 1 43 62
spontaneous occlusion of the circle of willis 43
progressive intracranial arterial occlusion 8
moyamoya disease, secondary 43
moyamoya disease, primary 43
moyamoya syndrome 43
mymy 43


External Ids:

Disease Ontology8 DOID:13099
MeSH35 D009072
NCIt40 C84895
ICD9CM27 437.5
SNOMED-CT58 69116000, 89142007
MESH via Orphanet36 C536991, D009072
ICD10 via Orphanet26 I67.5
SNOMED-CT via Orphanet59 69116000, 89142007
UMLS via Orphanet63 C0026654, C2931384

Related Diseases for Moyamoya Disease

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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 153)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm30.9TIMP2, MMP12
2holoprosencephaly29.9TGIF1, ZIC2, SIX3
3cerebritis10.9
4ischemia10.4
5chorea10.4
6hypertension10.3
7endotheliitis10.3
8moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism10.3
9moyamoya disease 510.3
10choroiditis10.3
11down syndrome10.3
12moyamoya 6 with achalasia10.3
13neurofibromatosis10.2
14renovascular hypertension10.2
15intracranial aneurysm10.2
16carotid artery occlusion10.2
17arteriovenous malformation10.2
18headache10.2
19hemoglobinuria10.2
20protein c deficiency10.2
21paroxysmal nocturnal hemoglobinuria10.2
22graves' disease10.2
23migraine10.2
24moyamoya disease 410.2
25craniopharyngioma10.1
26arteriovenous fistula10.1
27diabetic ketoacidosis10.1
28sickle cell anemia10.1
29hereditary spherocytosis10.1
30astrocytoma10.1
31cervicitis10.1
32periostitis10.1
33thyrotoxicosis10.1
34dwarfism10.1
35hemiplegic migraine10.1
36sydenham's chorea10.1
37hypoxia10.1
38blindness10.1
39hypertrophic scars10.1FGF2, NUDT6
40gastric ulcer10.1NUDT6, FGF2
41factor vii deficiency10.1NUDT6, FGF2
42corneal neovascularization10.1FGF2, TIMP2
43myelofibrosis10.0TIMP2, FGF2
44keloids10.0FGF2, TIMP2
45myopia 610.0TGIF1, NUDT6
46proliferative diabetic retinopathy10.0FGF2, TIMP2
47proliferative vitreoretinopathy10.0TIMP2, NUDT6, FGF2
48patau syndrome10.0SIX3, ZIC2
49bladder carcinoma10.0TIMP2, NUDT6, FGF2
50choriocarcinoma10.0TGIF1, TIMP2, NUDT6

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



Diseases related to moyamoya disease

Symptoms for Moyamoya Disease

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47OMIM, 49Orphanet
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Clinical features from OMIM:

252350,607151,608796,614042

Symptoms:

49
  • 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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Moyamoya Disease:

33
Brain, Endothelial, Skin, Smooth muscle, Pituitary, Thyroid, Testes, 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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52PubMed
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Articles related to Moyamoya Disease:

(show top 50)    (show all 544)
idTitleAuthorsYear
1
Moyamoya disease: A comparison of long term outcome of conservative and surgical treatment in India. (24183032)
2014
2
Perfusion characteristics of moyamoya disease: an anatomically and clinically oriented analysis and comparison. (24193795)
2014
3
The genetics of moyamoya disease: recent insights into the pathogenesis of the disease. (23149961)
2013
4
Effective surgical revascularization improves cerebral hemodynamics and resolves headache in pediatric Moyamoya disease. (23022638)
2013
5
Rapid progression of cerebral infarction after intraventricular hemorrhage in adult moyamoya disease. (24379948)
2013
6
Moyamoya disease in a primarily white, midwestern US population: increased prevalence of autoimmune disease. (23652271)
2013
7
Incidence, locations, and longitudinal course of silent microbleeds in moyamoya disease: a prospective T2*-weighted MRI study. (23223508)
2013
8
Role of Burr Hole Surgery in Patients with Moyamoya Disease. (23920308)
2013
9
Effect of delayed transit time on arterial spin labeling: correlation with dynamic susceptibility contrast perfusion magnetic resonance in moyamoya disease. (23764569)
2013
10
Moyamoya disease with exaggerated startle response: A rare co-occurrence. (24339629)
2013
11
Prevalence and characteristics of concurrent down syndrome in patients with moyamoya disease. (23149966)
2013
12
Impaired dynamic cerebral autoregulation in Moyamoya disease. (23731503)
2013
13
Diagnosis of moyamoya disease on magnetic resonance imaging: are flow voids in the basal ganglia an essential criterion for definitive diagnosis? (22939199)
2013
14
High-resolution MR technique can distinguish moyamoya disease from atherosclerotic occlusion. (23420895)
2013
15
Lessons learned from moyamoya disease: outcome of direct/indirect revascularization surgery for 150 affected hemispheres. (22688070)
2012
16
Posterior auricular artery-middle cerebral artery bypass for additional surgery of moyamoya disease. (22089809)
2012
17
Sex differences in clinical presentation and treatment outcomes in Moyamoya disease. (22718024)
2012
18
Clinical features, surgical treatment and long-term outcome in adult patients with Moyamoya disease in China. (23146868)
2012
19
History of the development of surgical treatments for moyamoya disease. (22688063)
2012
20
Acute cerebral ischemia after intracranial bleeding in unilateral moyamoya disease: case report. (22688074)
2012
21
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
22
Increased levels of circulating SDF-1I+ and CD34+ CXCR4+ cells in patients with moyamoya disease. (21435112)
2011
23
Neurocognitive profiles of children with moyamoya disease before and after surgical intervention. (21178347)
2011
24
Association of a functional polymorphism in the MMP-3 gene with Moyamoya Disease in the Chinese Han population. (20948207)
2010
25
Fatal massive cerebral infarctions in a young patient with diabetic ketoacidosis--a rare case of atherosclerotic moyamoya disease. (19917648)
2010
26
Decreased level and defective function of circulating endothelial progenitor cells in children with moyamoya disease. (19774676)
2010
27
Endovascular treatment of intracranial aneurysms associated with moyamoya disease or moyamoya syndrome. (20977854)
2010
28
Incidence and pathogenesis of transient cheiro-oral syndrome after surgical revascularization for moyamoya disease. (20881569)
2010
29
Presumed perinatal stroke in a child with Down syndrome and moyamoya disease. (19583743)
2010
30
Computed tomographic perfusion in assessing postoperative revascularization in moyamoya disease. (20860934)
2010
31
Moyamoya disease presented as a case of hemiplegic migraine. (22798438)
2010
32
Thalamo-perforating artery aneurysm in Moyamoya disease - case report. (20515265)
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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64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Moyamoya Disease:

64
id Symbol AA change Variation ID SNP ID
1RNF213p.Arg4810LysVAR_067030

Expression for genes affiliated with Moyamoya Disease

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2BioGPS, 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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50PathCards, 5Cell Signaling Technology, 38NCBI BioSystems Database, 53QIAGEN, 55Reactome
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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
Angiogenesis38
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
8.6FGF2, ACTA2, MMP12, TIMP2, NUDT6

Compounds for genes affiliated with Moyamoya Disease

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45Novoseek, 11DrugBank, 61Tocris Bioscience, 24HMDB, 29IUPHAR, 3BitterDB
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Compounds related to Moyamoya Disease according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1cmdb74510.1FGF2, TGIF1
25-methylthioadenosine4510.1FGF2, NUDT6
3doxycycline45 1110.8NUDT6, TGIF1, FGF2
4agar459.7NUDT6, TGIF1, FGF2
5hydroxamate459.6MMP12, TIMP2
6ribonucleic acid459.4TGIF1, TIMP2, NUDT6
7cytochalasin d45 6110.4FGF2, ACTA2, TGIF1, TIMP2
8ascorbic acid45 2410.3TIMP2, TGIF1, FGF2
9thymidine45 2410.3NUDT6, TIMP2, TGIF1, FGF2
10batimastat45 61 1111.2TIMP2, MMP12
11matrigel459.2NUDT6, TIMP2, MMP12, FGF2
12genistein45 29 61 3 24 1114.1TIMP2, TGIF1, MMP12, FGF2
13nitric oxide45 24 1110.9MMP12, TGIF1, TIMP2, NUDT6
14vegf458.8FGF2, MMP12, TGIF1, TIMP2, NUDT6
15zinc45 249.7ZIC2, MMP12, TGIF1, TIMP2

GO Terms for genes affiliated with Moyamoya Disease

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16Gene Ontology
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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Moyamoya Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet