MCID: MYM002
MIFTS: 52

Moyamoya Disease malady

Cardiovascular, Neuronal categories

Summaries for Moyamoya Disease

Sources:
43NIH Rare Diseases, 44NINDS, 64Wikipedia, 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 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 aneurysm disease, and has symptoms including autosomal recessive inheritance, seizures/epilepsy/absences/spasms/status epilepticus and intellectual deficit/mental/psychomotor retardation/learning disability. 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 liver, spinal cord and brain.

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:64 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

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular, Neuronal


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 61
moyamoya disease 2 43 47 61
moyamoya disease 3 43 47 61
moyamoya disease 1 43 61
progressive intracranial arterial occlusion 8
moyamoya disease, secondary 43
moyamoya disease, primary 43


External Ids:

Disease Ontology8 DOID:13099
NCIt40 C84895
MeSH35 D009072
ICD9CM27 437.5
SNOMED-CT57 89142007, 69116000
MESH via Orphanet36 C536991, D009072
ICD10 via Orphanet26 I67.5
SNOMED-CT via Orphanet58 69116000, 89142007
UMLS via Orphanet62 C0026654, C2931384
ICD1025 I67.5

Related Diseases for Moyamoya Disease

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 130)
idRelated DiseaseScoreTop Affiliating Genes
1holoprosencephaly29.9ZIC2, SIX3, TGIF1
2aneurysm disease10.6
3brain disease10.6
4vascular disease10.4
5chorea10.4
6moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism10.4
7hemorrhage, intracerebral10.4
8coronary artery disease,10.4
9moyamoya disease 510.4
10stroke, ischemic10.3
11carotid artery occlusion10.3
12neurofibromatosis10.3
13renovascular hypertension10.3
14arteriovenous malformation10.3
15intracranial aneurysm10.3
16graves' disease10.3
17aortic disease10.3
18headache10.3
19moyamoya disease 410.2
20diabetic ketoacidosis10.1
21brain compression10.1
22sickle cell anemia10.1
23hereditary spherocytosis10.1
24n syndrome10.1
25astrocytoma10.1
26thyrotoxicosis10.1
27dwarfism10.1
28sickle cell disease10.1
29hemiplegic migraine10.1
30sydenham's chorea10.1
31cerebral hypoxia10.1
32hypoxia10.1
33stroke, hemorrhagic10.1
34brain ischemia10.1
35hepatitis c10.0TGIF1
36gingival overgrowth10.0NUDT6
37duodenal ulcer10.0TGIF1
38corneal neovascularization10.0FGF2, TIMP2
39myopia 610.0TGIF1, NUDT6
40endometriosis10.0TIMP2
41meningioma10.0TGIF1, MMP12
42aortic aneurysm10.0ACTA2
43proliferative vitreoretinopathy10.0NUDT6, TIMP2, FGF2
44gastric ulcer10.0NUDT6, FGF2
45biliary atresia10.0TGIF1
46proliferative diabetic retinopathy10.0TIMP2, FGF2
47osteoarthritis10.0MMP12, FGF2, TIMP2
48hyperhomocysteinemia10.0MMD
49bladder carcinoma10.0NUDT6, MMP12, TIMP2, FGF2
50patau syndrome10.0SIX3, ZIC2

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



Diseases related to moyamoya disease

Clinical Features for Moyamoya Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

252350,607151,608796,614042

Symptoms:

49 (show all 6)
  • autosomal recessive inheritance
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • vascular anomalies of skin/mucosae
  • dilated cerebral ventricles without hydrocephaly
  • cerebral vascular anomalies

Drugs & Therapeutics for Moyamoya Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Moyamoya Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Moyamoya Disease:

33
Liver, Spinal cord, Brain, Lung, Bone marrow, Whole blood, Cortex, Smooth muscle, Thyroid, T cells, Endothelial, Fetal brain, Temporal lobe, Occipital lobe, Fetal liver, Fetal lung, Fetal thyroid, Pituitary

Animal Models for Moyamoya Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Moyamoya Disease

Sources:
51PubMed
See all sources

Articles related to Moyamoya Disease:

(show top 50)    (show all 559)
idTitleAuthorsYear
1
Perfusion characteristics of moyamoya disease: an anatomically and clinically oriented analysis and comparison. (24193795)
2014
2
Treatment of moyamoya disease in the adult population with pial synangiosis. (24405066)
2014
3
Hemodynamics and changes after STA-MCA anastomosis in moyamoya disease and atherosclerotic cerebrovascular disease measured by micro-Doppler ultrasonography. (23192651)
2013
4
Value of cerebral oxygen saturation monitoring during cardiopulmonary bypass in an adult patient with moyamoya disease. (22209176)
2013
5
Vascular collateralization along ventriculoperitoneal shunt catheters in moyamoya disease. (23581637)
2013
6
Is there a role for treating inflammation in moyamoya disease?: a review of histopathology, genetics, and signaling cascades. (23966972)
2013
7
Arterial spin labelling MRI for assessment of cerebral perfusion in children with moyamoya disease: comparison with dynamic susceptibility contrast MRI. (23404242)
2013
8
An epidemiological survey of moyamoya disease, unilateral moyamoya disease and quasi-moyamoya disease in Japan. (23041378)
2013
9
Poststroke psychosis in an 8-year-old child with moyamoya disease. (24326437)
2013
10
Concurrent Takayasu arteritis with common variable immunodeficiency and moyamoya disease. (23380559)
2013
11
Posterior cerebral artery involvement in moyamoya disease: initial infarction and angle between PCA and basilar artery. (23653141)
2013
12
Whole-brain CT perfusion and CT angiography assessment of Moyamoya disease before and after surgical revascularization: preliminary study with 256-slice CT. (23451248)
2013
13
Clinical and radiographic features of moyamoya disease in patients with both cerebral ischaemia and haemorrhage. (22934580)
2013
14
The leptomeningeal ivy sign on fluid-attenuated inversion recovery images in moyamoya disease: positron emission tomography study. (23920347)
2013
15
Effectiveness of Burr Holes for Indirect Revascularization in Patients with Moyamoya Disease-A Review of the Literature. (23747434)
2013
16
Bypass surgery for moyamoya disease: concept and essence of sugical techniques. (22688064)
2012
17
Hemorrhagic moyamoya disease in children: clinical features and surgical outcome. (21805358)
2012
18
Moyamoya disease in China: its clinical features and outcomes. (22020027)
2012
19
Hemodynamic improvement of anterior cerebral artery territory perfusion induced by bifrontal encephalo(periosteal) synangiosis in pediatric patients with moyamoya disease: a study with brain perfusion SPECT. (22033781)
2012
20
Quantitative angiographic comparison with the OSIRIS program between the direct and indirect revascularization modalities in adult moyamoya disease. (21866061)
2012
21
Neuroradiologic correlates of cognitive impairment in adult Moyamoya disease. (22173751)
2012
22
The role of VEGF and KDR polymorphisms in moyamoya disease and collateral revascularization. (23077562)
2012
23
Moyamoya disease: evaluation of postoperative revascularization using multiphase selective arterial spin labeling MRI. (22261785)
2012
24
Hypothermic cardiopulmonary bypass for minimally invasive mitral valve plasty in adult moyamoya disease. (22349743)
2012
25
Neurocognitive profiles of children with moyamoya disease before and after surgical intervention. (21178347)
2011
26
Psychomotor delay, a possible rare presentation of moyamoya disease. (23329920)
2011
27
Moyamoya disease: a review of the disease and anesthetic management. (20924291)
2011
28
Electroencephalogram monitoring during intracranial surgery for moyamoya disease. (21555053)
2011
29
Enhancement expression of bFGF in Chinese patients with Moyamoya disease. (21440843)
2011
30
Anaesthetic management of a parturient with moyamoya disease. (21731978)
2011
31
Endovascular treatment of intracranial aneurysms associated with moyamoya disease or moyamoya syndrome. (20977854)
2010
32
Moyamoya disease presented as a case of hemiplegic migraine. (22798438)
2010
33
Thalamo-perforating artery aneurysm in Moyamoya disease - case report. (20515265)
2010
34
Progressive PCA steno-occlusive changes after revascularization for moyamoya disease: a neglected phenomenon. (21107161)
2010
35
Headache associated with moyamoya disease: a case story and literature review. (20012551)
2010
36
NBCA embolization of a ruptured intraventricular distal anterior choroidal artery aneurysm in a patient with moyamoya disease. (21990650)
2010
37
Moyamoya disease: a summary. (19335127)
2009
38
Effect of preoperative skull block on pediatric moyamoya disease. (18590393)
2008
39
The clinical features of adult unilateral moyamoya disease: does it have the same clinical characteristics as typical moyamoya disease? (18648196)
2008
40
Cerebral infarction associated with moyamoya disease: histogram-based quantitative analysis of diffusion tensor imaging -- a preliminary study. (18467061)
2008
41
Moyamoya disease: current concepts and future perspectives. (18940695)
2008
42
Moyamoya disease and aortic coarctation in a patient with common brachiocephalic trunk. (17347086)
2007
43
Intracerebral hemorrhage after prophylactic revascularization in a patient with adult moyamoya disease. (17719983)
2007
44
SEREX identification of the autoantibodies that are prevalent in the cerebrospinal fluid of patients with moyamoya disease. (15168859)
2004
45
Elevation of CRABP-I in the cerebrospinal fluid of patients with Moyamoya disease. (14605320)
2003
46
Moyamoya disease and sagittal sinus thrombosis in a child with Down's syndrome. (11214682)
2001
47
Stroke in hemoglobin (SD) sickle cell disease with moyamoya: successful hydroxyurea treatment after cerebrovascular bypass surgery. (11264186)
2001
48
Thrombophilia found in patients with moyamoya disease. (9409444)
1997
49
Possible roles of basic fibroblast growth factor in the pathogenesis of moyamoya disease: an immunohistochemical study. (2072165)
1991
50
Moyamoya disease presenting as a seizure disorder. A case report. (889487)
1977

Genetic Variations for Moyamoya Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Moyamoya Disease:

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

Expression for genes affiliated with Moyamoya Disease

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

Sources:
38NCBI BioSystems Database, 52QIAGEN
See all sources

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

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 2BitterDB, 24HMDB
See all sources

Compounds related to Moyamoya Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cmdb74510.5FGF2, TGIF1
2hydroxamate4510.4MMP12, TIMP4, TIMP2
35-methylthioadenosine4510.3FGF2, NUDT6
4doxycycline45 1111.3TGIF1, FGF2, NUDT6
5cytochalasin d45 6011.3TGIF1, ACTA2, FGF2, TIMP2
6matrigel4510.2TIMP2, NUDT6, FGF2, MMP12
7vegf4510.0TIMP2, NUDT6, FGF2, MMP12, TGIF1
8genistein45 29 60 2 11 2414.9TGIF1, MMP12, FGF2, TIMP2

GO Terms for genes affiliated with Moyamoya Disease

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Moyamoya Disease

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet