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
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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
Recent advances in moyamoya disease: pathophysiology and treatment. (24310442)
2014
2
Clinical and Angiographic Features and Stroke Types in Adult Moyamoya Disease. (24384121)
2014
3
Rapid progression of cerebral infarction after intraventricular hemorrhage in adult moyamoya disease. (24379948)
2013
4
Impaired dynamic cerebral autoregulation in Moyamoya disease. (23731503)
2013
5
Predictive factors of symptomatic cerebral hyperperfusion after superficial temporal artery-middle cerebral artery anastomosis in adult patients with moyamoya disease. (23274781)
2013
6
Headaches in children with moyamoya disease: does revascularization help? (23159646)
2013
7
Childhood moyamoya disease: a clinical and angiographic study from eastern India. (24382908)
2013
8
Selective neuropsychological impairments and related clinical factors in children with moyamoya disease of the transient ischemic attack type. (24005800)
2013
9
Unilateral sudden hearing loss as the first presenting symptom of moyamoya disease. (23318042)
2013
10
Pediatric Moyamoya disease. (23826451)
2013
11
Quantitative Cerebral Perfusion Imaging in Children and Young Adults with Moyamoya Disease: Comparison of Arterial Spin-Labeling-MRI and H2[15O]-PET. (24335546)
2013
12
Clinical features, surgical treatment and long-term outcome in adult patients with Moyamoya disease in China. (23146868)
2012
13
Cerebral infarction following intracranial hemorrhage in pediatric Moyamoya disease - A case report and brief review of literature. (22412278)
2012
14
The role of brain perfusion SPECT in Moyamoya disease. (22980130)
2012
15
Analysis of ACTA2 in European Moyamoya disease patients. (20970362)
2011
16
Arterial spin-labeling MRI can identify the presence and intensity of collateral perfusion in patients with moyamoya disease. (21799169)
2011
17
Indirect bypass procedures for moyamoya disease in pediatric patients. (21534196)
2011
18
Renal agenesis and external iliac artery stenosis in an infant with moyamoya disease. (20970270)
2011
19
Effect of mouth opening on bypass function after combined revascularization for Moyamoya disease. (21691985)
2011
20
Evaluation of angiographic changes of the anterior choroidal and posterior communicating arteries for predicting cerebrovascular lesions in adult moyamoya disease. (21237656)
2011
21
Laparoscopic splenectomy in a child with moyamoya syndrome, hereditary spherocytosis, and interstitial lung disease: a mere coincidence or partnership based on genetic similarities. (22606383)
2011
22
Unpredictable postoperative global cerebral infarction in the patient of williams syndrome accompanying moyamoya disease. (22102960)
2011
23
Moyamoya syndrome associated with Graves' disease: a case report and review of the literature. (21130668)
2011
24
Moyamoya disease: Diagnostic imaging. (22802820)
2011
25
Embolization of an unruptured distal lenticulostriate aneurysm associated with moyamoya disease. (20075103)
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
Pediatric moyamoya disease: An analysis of 410 consecutive cases. (20582955)
2010
29
Patient selection for revascularization procedures in adult Moyamoya disease based on dynamic perfusion computerized tomography with acetazolamide challenge (PCTA). (20140634)
2010
30
Moyamoya disease in children. (20607248)
2010
31
Direct bypass techniques for the treatment of pediatric moyamoya disease. (20561504)
2010
32
Postoperative neurological deterioration in pediatric moyamoya disease: watershed shift and hyperperfusion. (20593991)
2010
33
Novel bypass surgery for moyamoya disease using pericranial flap: its impacts on cerebral hemodynamics and long-term outcome. (20495424)
2010
34
Intraoperative acute brain swelling when performing indirect anastomosis in a patient with moyamoya disease -A case report-. (21286438)
2010
35
De novo appearance of primitive neuroectodermal tumor in a patient with systemic lupus erythematosus and moyamoya disease. (20410155)
2010
36
A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians. (19921495)
2010
37
Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations. (19877776)
2009
38
Moyamoya-disease-related ischemic stroke in the postpartum period. (20149050)
2009
39
Leptomeningeal enhancement in petients with moyamoya disease: correlation with perfusion imaging. (19470971)
2009
40
Surgical treatment of moyamoya disease in children. (18545803)
2008
41
Reversible chorea in association with Graves' disease and moyamoya syndrome. (18186119)
2008
42
Autosomal dominant moyamoya disease maps to chromosome 17q25.3. (18463369)
2008
43
Long-term outcome of superficial temporal artery-middle cerebral artery bypass for patients with moyamoya disease in the US. (18275291)
2008
44
Effect of transfusion on cerebral oxygenation, flow velocity in a patient with sickle cell anemia and Moyamoya disease: a case report. (17607591)
2006
45
A case of moyamoya disease presenting with chorea. (15864707)
2006
46
Empty sella, hypogonadism and hypopituitarism secondary to moyamoya disease. (15925787)
2005
47
Basal meningoencephalocele, anomaly of optic disc and panhypopituitarism in association with moyamoya disease. (11070437)
2000
48
Moyamoya disease in a patient with hereditary spherocytosis. (9472053)
1998
49
Quasi-moyamoya disease and heterozygosity for homocystinuria in a five-year-old girl. (2359484)
1990
50
Moyamoya disease caused by leptospiral cerebral arteritis. (6775894)
1980

Genetic Variations for Moyamoya Disease

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Sources:
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