MCID: MYM002
MIFTS: 56

Moyamoya Disease malady

Cardiovascular diseases, Neuronal diseases categories

Summaries for Moyamoya Disease

About this section
Sources:
42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
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
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section

Anatomical Context for Moyamoya Disease

About this section
Sources:
32MalaCards
See all sources

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

About this section

Publications for Moyamoya Disease

About this section
Sources:
50PubMed
See all sources

Articles related to Moyamoya Disease:

(show top 50)    (show all 558)
idTitleAuthorsYear
1
Paroxysmal sympathetic hyperactivity in a child with moyamoya disease. (23686107)
2014
2
Moyamoya disease in a primarily white, midwestern US population: increased prevalence of autoimmune disease. (23652271)
2013
3
Diagnosis of moyamoya disease on magnetic resonance imaging: are flow voids in the basal ganglia an essential criterion for definitive diagnosis? (22939199)
2013
4
RNF213 polymorphism and Moyamoya disease: A systematic review and meta-analysis. (23466837)
2013
5
The usefulness of the ivy sign on fluid-attenuated intensity recovery images in improved brain hemodynamic changes after superficial temporal artery-middle cerebral artery anastomosis in adult patients with moyamoya disease. (24294453)
2013
6
Changes in superficial temporal artery blood flow and cerebral hemodynamics after extracranial-intracranial bypass surgery in moyamoya disease and atherothrombotic carotid occlusion. (23228360)
2013
7
How to Minimize Ischemic Complication Related to Swollen Temporalis Muscle Following Indirect Revascularization Surgery in Moyamoya Disease: A Technical Report. (23532610)
2013
8
P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure. (22878964)
2013
9
Coronary artery stenosis in moyamoya disease: tissue characterization by 256-slice multi-detector CT and virtual histology. (23690454)
2013
10
Quality of life and psychological impact in adult patients with hemorrhagic moyamoya disease who received no surgical revascularization. (23498370)
2013
11
Arterial spin-labeling magnetic resonance imaging after revascularization of moyamoya disease. (22721824)
2013
12
Impacts and interactions of PDGFRB, MMP-3, TIMP-2, and RNF213 polymorphisms on the risk of Moyamoya disease in Han Chinese human subjects. (23769926)
2013
13
Pregnancy and delivery in moyamoya disease: results of a nationwide survey in Japan. (22688067)
2012
14
Intracranial stent placement in a patient with moyamoya disease. (21611836)
2012
15
Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations. (22688066)
2012
16
Moyamoya disease as a possible cause of neurological impairment following liver transplantation for Wilson's disease. (21338457)
2011
17
Incidental major artery aneurysms in patients with non-hemorrhagic moyamoya disease. (21279660)
2011
18
Insights on the revascularization mechanism for treatment of Moyamoya disease based on the histopathologic concept of angiogenesis and arteriogenesis. (21492713)
2011
19
Decreased level and defective function of circulating endothelial progenitor cells in children with moyamoya disease. (19774676)
2010
20
Primary central nervous system vasculitis and moyamoya disease: similarities and differences. (20037765)
2010
21
General anaesthesia for caeserean section in a patient with moyamoya disease. (21547197)
2010
22
A single case report of Moyamoya disease presenting in a psychiatric setting. (20146125)
2010
23
Diffuse and uncontrolled vascular smooth muscle cell proliferation in rapidly progressing pediatric moyamoya disease. (20809708)
2010
24
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
25
Increased expression of serum Matrix Metalloproteinase-9 in patients with moyamoya disease. (19147196)
2009
26
De novo development of moyamoya disease in an adult female. Case report. (19361271)
2009
27
Indications for one-stage extensive indirect vascular reconstructive surgery for pediatric moyamoya disease: 4 case reports. (19329149)
2009
28
Cerebral ischemia due to compression of the brain by ossified and hypertrophied muscle used for encephalomyosynangiosis in childhood moyamoya disease. (17967485)
2009
29
Moyamoya disease and moyamoya syndrome. (19579282)
2009
30
Paroxysmal episodes, "re-build up" phenomenon and moyamoya disease. (19945932)
2009
31
Optimal surgical treatment for moyamoya disease in adults: direct versus indirect bypass. (19335134)
2009
32
Cerebral hemodynamics as a predictor of stroke in adult patients with moyamoya disease: a prospective observational study. (19335132)
2009
33
Circulating endothelial progenitor cells as a pathogenetic marker of moyamoya disease. (18612318)
2008
34
Intracranial hemodynamic changes during adult moyamoya disease progression. (19513306)
2008
35
Invited article: surgical management of Moyamoya disease. (18597224)
2008
36
Moyamoya disease in a member of the Roma gypsy community. (18264018)
2008
37
Tc-99m MDP uptake resulting from right internal carotid artery occlusion of Moyamoya disease. (18716525)
2008
38
Acute cerebral ischemia following intraventricular hemorrhage in moyamoya disease: early perfusion computed tomography findings. (19035718)
2008
39
Present status of Moyamoya disease in Japan. (18496955)
2008
40
Expression of hypoxia-inducing factor-1 alpha and endoglin in intimal hyperplasia of the middle cerebral artery of patients with Moyamoya disease. (17290185)
2007
41
Familial Moyamoya disease in two European children. (18174554)
2007
42
A novel susceptibility locus for moyamoya disease on chromosome 8q23. (15362573)
2004
43
Minimal invasive direct coronary artery bypass in moyamoya disease. (17669990)
2003
44
Morning glory disk anomaly, choroidal coloboma, and congenital constrictive malformations of the internal carotid arteries (moyamoya disease). (10779846)
2000
45
Moyamoya disease associated with basilar tip aneurysm. (18639170)
1999
46
Differences in cellular responses to mitogens in arterial smooth muscle cells derived from patients with moyamoya disease. (9626293)
1998
47
Renovascular hypertension in children with moyamoya disease. (9290613)
1997
48
Moyamoya disease and protein S deficiency: a case report. (9367301)
1997
49
The cerebrospinal fluid in patients with moyamoya disease (spontaneous occlusion of the circle of Willis) contains high level of basic fibroblast growth factor. (8247356)
1993
50
Alagille syndrome associated with moyamoya disease. (2750789)
1989

Genetic Variations for Moyamoya Disease

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
37NCBI BioSystems Database, 51QIAGEN
See all sources

Pathways related to Moyamoya Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3FGF2, TIMP2
2
Hide members
10.3TIMP2, NUDT6, ACTA2
3
Hide members
10.2MMP12, TIMP4, TIMP2
4
Hide members
10.2FGF2, NUDT6, TIMP4, TIMP2
5
Hide members
10.2FGF2, NUDT6, TIMP4, TIMP2
6
Hide members
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

About this section
Sources:
44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 2BitterDB, 24HMDB
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Moyamoya Disease

About this section
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