MYMY
MCID: MYM002
MIFTS: 61

Moyamoya Disease (MYMY) malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases

Aliases & Classifications for Moyamoya Disease

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Moyamoya Disease:

Name: Moyamoya Disease 52 11 48 25 49 54 12 50 39 13 68
Moyamoya Disease 1 48 27 68
Spontaneous Occlusion of the Circle of Willis 48 25
Progressive Intracranial Arterial Occlusion 11 25
Moyamoya Disease 3 48 68
Moyamoya Disease 2 48 68
Moya-Moya Disease 25 27
 
Progressive Intracranial Occlusive Arteropathy 25
Cerebrovascular Moyamoya Disease 25
Moyamoya Disease, Secondary 48
Idiopathic Moyamoya Disease 54
Moyamoya Disease, Primary 48
Moyamoya Syndrome 48
Mymy 48

Characteristics:

Orphanet epidemiological data:

54
moyamoya disease:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,X-linked recessive; Prevalence: 1-9/1000000 (France); Age of onset: All ages

HPO:

64
moyamoya disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 252350
Disease Ontology11 DOID:13099
ICD1030 I67.5
ICD9CM32 437.5
MeSH39 D009072
SNOMED-CT62 69116000, 89142007
NCIt45 C84895
Orphanet54 ORPHA2573
MESH via Orphanet40 C536991, D009072
UMLS via Orphanet69 C0026654, C2931384
ICD10 via Orphanet31 I67.5

Summaries for Moyamoya Disease

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NINDS:49 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.  Moyamoya disease was first described in Japan in the 1960s and it has since been found in individuals in the other countries around the world; its incidence is higher in Asian countries than in Europe or North America. The disease primarily affects children, but it can also occur in adults. In children, the first symptom of Moyamoya disease is often stroke, or recurrent transient ischemic attacks (TIA, commonly referred to as “mini-strokes”), frequently accompanied by muscular weakness or paralysis affecting one side of the body, or seizures.  Adults may also experience these symptoms that arise from blocked arteries, but more often experience a hemorrhagic stroke due to bleeding into the brain from the abnormal brain vessels.  Individuals with this disorder may have disturbed consciousness, problems with speaking and understanding speech, sensory and cognitive impairments, involuntary movements, and vision problems. About one in 10 individuals with Moyamoya disease has a close relative who is also affected; in these cases researchers think that Moyamoya disease is the result of inherited genetic abnormalities. Studies that look for the abnormal gene(s) may help reveal the biomechanisms that cause the disorder.

MalaCards based summary: Moyamoya Disease, also known as moyamoya disease 1, is related to myocardial infarction and moyamoya disease 5, and has symptoms including Array, Array and Array. An important gene associated with Moyamoya Disease is RNF213 (Ring Finger Protein 213), and among its related pathways are VEGF binds to VEGFR leading to receptor dimerization and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include brain, testes and endothelial, and related mouse phenotypes are respiratory system and muscle.

Disease Ontology:11 A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.

Genetics Home Reference:25 Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: "moyamoya" is an expression meaning "something hazy like a puff of smoke" in Japanese.

NIH Rare Diseases:48 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

OMIM:52 Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion... (252350) more...

Wikipedia:71 Moyamoya disease is a disease in which certain arteries in the brain are constricted. Blood flow is... more...

Related Diseases for Moyamoya Disease

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Diseases in the Moyamoya Disease family:

Moyamoya Disease 3 Moyamoya Disease 5
Moyamoya Disease 2

Diseases related to Moyamoya Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 155)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction28.6GUCY1A3, KDR, MMP3, MMP9, MTHFR, TGFB1
2moyamoya disease 512.2
3moyamoya disease 212.2
4moyamoya disease 312.2
5moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism12.2
6moyamoya 6 with achalasia11.9
7cerebritis10.5
8right atrium familial dilatation10.3MMP3, MMP9
9central nervous system adult germ cell tumor10.2MMP3, MMP9, TIMP2
10schwannomatosis10.2MMP3, MMP9, TIMP2
11aneurysm10.2
12choroid plexus cancer10.2ACTA2, GUCY1A3, RNF213
13adult neuronal ceroid lipofuscinosis10.2MMP9, TIMP2, VEGFA
14maxillary neoplasm10.2MMP9, TIMP2, VEGFA
15upper respiratory tract disease10.2FGF2, TGFB1, VEGFA
16epidermolysis bullosa simplex, sutosomal recessive 210.2FGF2, MMP9, VEGFA
17stevens-johnson syndrome/toxic epidermal necrolysis10.1FGF2, TGFB1, TIMP2, VEGFA
18benign idiopathic neonatal seizures10.1FGF2, KDR, VEGFA
19kidney osteogenic sarcoma10.1KDR, MMP9, VEGFA
20neurilemmoma of the pleura10.1FGF2, KDR, VEGFA
21pituitary infarct10.1MMP3, MMP9, TGFB1, VEGFA
22subdural empyema10.1FGF2, KDR, VEGFA
23oppositional defiant disorder10.1FGF2, KDR, VEGFA
24mixed ductal-endocrine carcinoma10.1MMP3, MMP9, TIMP2
25metagonimiasis10.1FGF2, KDR, VEGFA
26multinodular goiter10.1KDR, PDGFRB, VEGFA
27pseudoxanthoma elasticum10.1
28hypogonadotropic hypogonadism 20 with or without anosmia10.1FGF2, MMP9, TGFB1, VEGFA
29ladd syndrome10.1FGF2, MMP9, TIMP2, VEGFA
30autoimmune-related retinopathy and optic neuropathy10.0MMP3, MMP9, TGFB1, VEGFA
31citrullinemia, type ii, neonatal-onset10.0FGF2, KDR, VEGFA
32mitral valve stenosis10.0FGF2, KDR, PDGFRB, VEGFA
33endotheliitis10.0
34aminoaciduria10.0MMP9, MTHFR
35grade iii astrocytoma10.0FGF2, KDR, PDGFRB, VEGFA
36ischemia10.0
37hemolytic anemia10.0FGF2, KDR, VEGFA
38intracranial cysts10.0MTHFR, VEGFA
39testicular cancer9.9KDR, MMP9, PDGFRB, VEGFA
40vernal conjunctivitis9.9KDR, MTHFR, VEGFA
41ceroid lipofuscinosis, neuronal, 89.9MMP3, MMP9, MTHFR, VEGFA
42arteriovenous malformation9.9
43graves' disease9.9
44neurofibromatosis9.9
45neurofibromatosis, type 19.9
46choroiditis9.9
47down syndrome9.9
48pericarditis9.9FGF2, MMP9, MTHFR, VEGFA
49intracranial aneurysm9.8
50renovascular hypertension9.8

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



Diseases related to moyamoya disease

Symptoms & Phenotypes for Moyamoya Disease

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Symptoms by clinical synopsis from OMIM:

252350

Clinical features from OMIM:

252350

Human phenotypes related to Moyamoya Disease:

 54 64 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 telangiectasia64 54 Very frequent (99-80%) HP:0001009
2 intellectual disability64 54 Frequent (79-30%) HP:0001249
3 seizures64 54 Frequent (79-30%) HP:0001250
4 ventriculomegaly64 54 Frequent (79-30%) HP:0002119
5 abnormality of the cerebral vasculature64 54 Frequent (79-30%) HP:0100659
6 inflammatory arteriopathy64 HP:0005291

MGI Mouse Phenotypes related to Moyamoya Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5GUCY1A3, KDR, MMP9, RAI1, SHOC2, SIX3
2MP:00053698.4ACTA2, FGF2, GUCY1A3, KDR, MMP9, PDGFRB
3MP:00053858.2ACTA2, FGF2, GUCY1A3, KDR, MMP9, PDGFRB
4MP:00053907.7FGF2, KDR, MMP3, MMP9, MTHFR, PDGFRB
5MP:00036317.3FGF2, GUCY1A3, KDR, MMP3, MMP9, MTHFR
6MP:00053917.1ACTA2, FGF2, GUCY1A3, KDR, MMP9, MTHFR
7MP:00053767.0FGF2, GUCY1A3, KDR, MMP3, MMP9, MTHFR
8MP:00107686.4CRABP1, FGF2, GUCY1A3, KDR, MMP9, MTHFR

Drugs & Therapeutics for Moyamoya Disease

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Drugs for Moyamoya Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
XylometazolineapprovedPhase 377526-36-35709
Synonyms:
 
Balminil
Xylomethazoline
2Epoetin alfaPhase 1, Phase 2658113427-24-0
3HematinicsPhase 1, Phase 21684
4AnestheticsPhase 1, Phase 29596
5
Sevofluraneapproved, vet_approved50828523-86-65206
Synonyms:
1,1,1,3,3,3-Hexafluoro-2-(fluoromethoxy)propane
28523-86-6
AC-15484
AC1L1JU0
BRN 2041023
Bax 3084
C009250
C07520
C4H3F7O
CHEBI:9130
CHEMBL1200694
CID5206
D00547
DB01236
F0691
Fluoromethyl 1,1,1,3,3,3-Hexafluoroisopropyl Ether
Fluoromethyl 2,2,2-trifluoro-1-(trifluoromethyl)ethyl ether
I14-13357
LS-67851
MR6S4
 
MR_6S4
MolPort-001-775-746
NCGC00167421-01
PC4681
Sevofluran
Sevoflurane
Sevoflurane (JAN/USAN/INN)
Sevoflurane [USAN:INN:BAN:JAN]
Sevoflurano
Sevoflurano [INN-Spanish]
Sevofluranum
Sevofluranum [INN-Latin]
Sevofrane
Sevorane
Sojourn
UNII-38LVP0K73A
Ultane
Ultane (TN)
ZINC01530810
fluoromethyl hexafluoroisopropyl ether
fluoromethyl-2,2,2-trifluoro-1-(trifluoromethyl)ethyl ether
sevoflurane
6
Glucosamineapproved, Nutraceutical1913416-24-8439213
Synonyms:
(+)-2-amino-2-deoxy-D-glucopyranose
(2R,3R,4R,5S,6R)-3-amino-6-(hydroxymethyl)oxane-2,4,5-triol
(2S,5R)-3-amino-6-(hydroxymethyl)oxane-2,4,5-triol
(3R,4R,5S,6R)-3-amino-6-(hydroxymethyl)oxane-2,4,5-triol
14257-69-3
2-Amino-2-deoxy-D-Glucose
2-Amino-2-deoxy-D-glucopyranose
2-Amino-2-deoxy-D-glucose
2-Amino-2-deoxy-beta-D-glucopyranose
2-Amino-2-deoxyglucose
2-Aminoglucose
2-Deoxy-2-amino-D-glucose
2-Deoxy-2-aminoglucose
2-amino-2-deoxy-D-glucopyranose
2-amino-2-deoxyglucose
2351-15-7
28905-10-4
2B4D44B2-D5AC-4DA4-9BE6-A4AE9574E4A6
3416-24-8
4-04-00-02017 (Beilstein Handbook Reference)
58-87-7
58267-75-7
6490-70-6
880765-44-6
90-77-7
911653-84-4
AC1L2D1C
AC1L96WB
AC1L9B8P
AC1Q4UBH
BRN 1724602
BSPBio_002086
C00329
C08349
CHEBI:28393
CHEBI:47977
CHEMBL234432
CID18897
CID439213
CID441477
CPD0-1193
Chitosamine
Cosamin
D-(+)-Glucosamine
 
D-Glucosamine
D-glucosamine
D04334
DB01296
DivK1c_000261
EINECS 222-311-2
GCS
Glucosamina
Glucosamina [INN-Spanish]
Glucosamine (USAN/INN)
Glucosamine [USAN:INN]
Glucosaminum
Glucosaminum [INN-Latin]
HMS500N03
HSDB 7469
IDI1_000261
InChI=1/C6H13NO5/c7-3-5(10)4(9)2(1-8)12-6(3)11/h2-6,8-11H,1,7H2/t2-,3-,4-,5-,6-/m1/s1
KBio1_000261
KBio2_001311
KBio2_003879
KBio2_006447
KBio3_001306
KBioGR_000970
KBioSS_001311
LS-71671
MolPort-002-507-091
MolPort-003-944-937
NCGC00164421-01
NCGC00178826-01
NINDS_000261
SPBio_000477
STK801823
Spectrum2_000519
Spectrum3_000443
Spectrum4_000565
Spectrum5_000756
Spectrum_000831
Viartril-S
beta-D-Glucosamine
bmse000247
chitosamine
glucosamine
nchembio.189-comp4
nchembio.2007.41-comp7
nchembio.412-comp5
partially N-deacetylated poly-beta-1,6-N-acetyl-D-glucosamine
7Lipid Regulating Agents2766
8Hypoglycemic Agents5896
9Hypolipidemic Agents2785
10Glucuronyl glucosamine glycan sulfate140
11Anticoagulants2623
12Antimetabolites12054
13Fibrinolytic Agents2388
14Xenon68
15Vasodilator Agents3543
16Antihypertensive Agents4207
17Anticonvulsants2695
18Platelet Aggregation Inhibitors2516
19Central Nervous System Depressants13403
20Anesthetics, Inhalation684
21Anesthetics, General2934

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1The Adult Hemorrhagic Moyamoya Surgery StudyActive, not recruitingNCT02319980Phase 3
2Multiple Burrhole Therapy With Erythropoietin for Unstable MoyamoyaCompletedNCT03162588Phase 1, Phase 2
3The Role of Cerebral Hemodynamics in Moyamoya DiseaseUnknown statusNCT00629915
4Characteristics and Outcomes of Childhood Moyamoya in the UKUnknown statusNCT02434302
5Subclavian Vein catheterization_Seldinger Vs Modified SeldingerUnknown statusNCT02090010
6Quantifying Collateral Perfusion in Cerebrovascular Disease-Moyamoya Disease and Stroke PatientsCompletedNCT01419275
7Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE SyndromeCompletedNCT01018082
8Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic StrokeRecruitingNCT02074111
9Direct Bypass Versus Indirect Bypass in Treatment of Adults Hemorrhagic Moyamoya DiseaseRecruitingNCT02982135
10Neurocognitive and Radiological Assessments in Adult Moyamoya Undergoing SurgeryRecruitingNCT02305407
11Effects of Remote Ischemic Preconditioning With Postconditioning on Neurologic OutcomeRecruitingNCT03072914
12Prospective Observation for Serial Changes of Acute Intracranial Artery Dissection Using High Resolution MRIRecruitingNCT02914288
13Stroke Imaging Package StudyRecruitingNCT02485275
14Characterizing Hemodynamic Compensation in Patients With Intracranial StenosisActive, not recruitingNCT02506907
15EEG Monitoring in Children With Moyamoya DiseaseNot yet recruitingNCT03173014
16Sevoflurane and Hyperperfusion SyndromeNot yet recruitingNCT02510586

Search NIH Clinical Center for Moyamoya Disease


Cochrane evidence based reviews: moyamoya disease

Genetic Tests for Moyamoya Disease

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Genetic tests related to Moyamoya Disease:

id Genetic test Affiliating Genes
1 Moyamoya Disease 127
2 Moyamoya Disease27

Anatomical Context for Moyamoya Disease

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MalaCards organs/tissues related to Moyamoya Disease:

36
Brain, Testes, Endothelial, Smooth muscle, Thyroid, Bone, Pituitary

Publications for Moyamoya Disease

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Articles related to Moyamoya Disease:

(show top 50)    (show all 707)
idTitleAuthorsYear
1
Indocyanine green visualization of middle meningeal artery before craniotomy during surgical revascularization for moyamoya disease. (28050720)
2017
2
Unilateral moyamoya disease with co-existing arteriovenous malformation. (28084278)
2017
3
Impact of aberrant cerebral perfusion on resting-state functional MRI: A preliminary investigation of Moyamoya disease. (28441445)
2017
4
Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease. (27717682)
2017
5
Complementary relation between direct and indirect bypass in progress of collateral circulation in moyamoya disease. (28478244)
2017
6
Cortical Venous Redness Represents Tissue Circulation Status in Patients With Moyamoya Disease. (28446622)
2017
7
Neurocognitive Performance After Cerebral Revascularization in Adult Moyamoya Disease. (28487332)
2017
8
Etiology and pathogenesis of Moyamoya Disease: An update on disease prevalence. (28381201)
2017
9
Proposal for a Prospective Registry for Moyamoya Disease in Japan. (28070115)
2017
10
Long Term Outcome After Conservative Treatment and Direct Bypass Surgery of Moyamoya Disease at Late Suzuki Stage. (28366750)
2017
11
Persistent Hypotension and Cerebral Swelling Resulting From Mesenteric Traction Syndrome After Omental-to-Pial Pedicle Flap Transfer in a Young Woman With Refractory Moyamoya Disease: A Case Report. (28520567)
2017
12
Safety of Extracranial-Intracranial Arterial Bypass in the Treatment of Moyamoya Disease. (28060096)
2017
13
Moyamoya Disease as a Cause of Stroke in a Child with Tetralogy of Fallot. (28479818)
2017
14
Awake Surgery for Brain Vascular Malformations and Moyamoya Disease. (28377246)
2017
15
Natural History and Risk Factor of Recurrent Hemorrhage in Hemorrhagic Adult Moyamoya Disease. (28402467)
2017
16
Angiographic features of hemorrhagic moyamoya disease with high recurrence risk: a supplementary analysis of the Japan Adult Moyamoya Trial. (28409736)
2017
17
Moyamoya disease presenting as bilateral acute subdural hematomas without deficits. (28484538)
2017
18
Correlation between reduction in microvascular transit time after superficial temporal artery-middle cerebral artery bypass surgery for moyamoya disease and the development of postoperative hyperperfusion syndrome. (28498060)
2017
19
Cerebral blood flow, transit time, and apparent diffusion coefficient in moyamoya disease before and after acetazolamide. (27913820)
2017
20
Meta-analysis of the surgical outcomes of symptomatic moyamoya disease in adults. (28474994)
2017
21
Infarct Pattern and Collateral Status in Adult Moyamoya Disease: A Multimodal Magnetic Resonance Imaging Study. (27909201)
2017
22
Moyamoya disease with occlusion of bilateral vertebral arteries and the basilar artery fed by the collateral vessels of vertebral arteries: A rare case report. (28385458)
2017
23
Patient With Severe Moyamoya Disease Who Presents With Acute Cortical Blindness. (28411258)
2017
24
The association of the RNF213 p.R4810K polymorphism with quasi-moyamoya disease and a review of the pertinent literature. (28063898)
2017
25
Ischemic Stroke in Young Adults with Moyamoya Disease: Prognostic Factors for Stroke Recurrence and Functional Outcome after Revascularization. (28408257)
2017
26
Chemokine Ligand 5 (CCL5) Derived from Endothelial Colony-Forming Cells (ECFCs) Mediates Recruitment of Smooth Muscle Progenitor Cells (SPCs) toward Critical Vascular Locations in Moyamoya Disease. (28072843)
2017
27
Reply to: Moyamoya disease and systemic sclerosis (MoSys syndrome): a combination of two rare entities: comment to the authors. (28516875)
2017
28
Rapid contralateral progression of focal cerebral arteriopathy distinguished from RNF213-related moyamoya disease and fibromuscular dysplasia. (28497183)
2017
29
RNF213 p.R4810K Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease. (28506590)
2017
30
Association between the rs112735431 polymorphism of the RNF213 gene and moyamoya disease: A case-control study and meta-analysis. (27515544)
2016
31
Five-year experience of 101 adult patients with moyamoya disease at a single institution in Eastern China. (27506781)
2016
32
Neuropsychiatric manifestations in a child with moyamoya disease. (27114683)
2016
33
Edaravone Reduces Hyperperfusion-Related Neurological Deficits in Adult Moyamoya Disease: Historical Control Study. (27174526)
2016
34
Long-term follow-up of pediatric moyamoya disease treated by combined direct-indirect revascularization surgery: single institute experience with surgical and perioperative management. (27180559)
2016
35
Perioperative complications and long-term outcomes after bypasses in adults with moyamoya disease: a systematic review and meta-analysis. (27150649)
2016
36
Retinal Arterial Tortuosity in Moyamoya Disease. (26605691)
2016
37
Impact of abnormal cerebrovascular reactivity on BOLD fMRI: a preliminary investigation of moyamoya disease. (27572110)
2016
38
Establishment of induced pluripotent stem cell (iPSC) line from 55-year old male patient with hemorrhagic Moyamoya disease. (27934594)
2016
39
RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance. (27128593)
2016
40
Moyamoya Disease. (27960175)
2016
41
Von Willebrand factor and coagulation factor VIII in Moyamoya disease associated with Graves' disease: A case report. (27882137)
2016
42
Grading of moyamoya disease allows stratification for postoperative ischemia in bilateral revascularization surgery. (27573349)
2016
43
Subcortical low-intensity lesions on fluid-attenuated inversion recovery images after revascularization surgery for moyamoya disease. (27888077)
2016
44
Moyamoya disease and systemic sclerosis (MoSys syndrome): a combination of two rare entities. (27606722)
2016
45
Changes to the geometry and fluid mechanics of the carotid siphon in the pediatric Moyamoya disease. (27166074)
2016
46
Laparoscopic cholecystectomy in an adult moyamoya disease case. (27871534)
2016
47
Neuromodulatory role of revascularization surgery in moyamoya disease. (27150656)
2016
48
Comparison of 7T and 3T MRI in patients with moyamoya disease. (27899331)
2016
49
The association between the ring finger protein 213 (RNF213) polymorphisms and moyamoya disease susceptibility: a meta-analysis based on case-control studies. (26847828)
2016
50
Determinants of Basal Collaterals in Moyamoya Disease: Clinical and Genetic Factors. (27046023)
2016

Variations for Moyamoya Disease

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Copy number variations for Moyamoya Disease from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
110690517178774742DeletionMoyamoya disease

Expression for genes affiliated with Moyamoya Disease

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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 Suite gene sharing:

(show all 29)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9KDR, VEGFA
29.8ACTA2, FGF2, TGFB1
39.7FGF2, TGFB1, VEGFA
49.7FGF2, TGFB1, VEGFA
59.7MMP3, TGFB1, VEGFA
69.7FGF2, KDR, TGFB1
79.7FGF2, KDR, VEGFA
89.7MMP3, MMP9, TIMP2
99.7MMP3, MMP9, TIMP2
10
Show member pathways
9.7MMP3, MMP9, TIMP2
119.7FGF2, MMP9, TGFB1
12
Show member pathways
9.6MMP3, MMP9, VEGFA
13
Show member pathways
9.6KDR, PDGFRB, VEGFA
14
Show member pathways
9.5ACTA2, FGF2, KDR, VEGFA
159.5ACTA2, KDR, TGFB1, VEGFA
169.4FGF2, KDR, TGFB1, VEGFA
179.4FGF2, MMP9, TGFB1, VEGFA
189.2FGF2, MMP3, MMP9, TGFB1, VEGFA
19
Show member pathways
9.2FGF2, KDR, MMP9, TIMP2, VEGFA
209.1FGF2, KDR, MMP9, TGFB1, VEGFA
21
Show member pathways
9.1FGF2, KDR, PDGFRB, SHOC2, VEGFA
229.1FGF2, KDR, PDGFRB, TGFB1, VEGFA
239.1FGF2, MMP9, PDGFRB, TGFB1, VEGFA
249.0FGF2, KDR, PDGFRB, RPTOR, VEGFA
25
Show member pathways
8.9ACTA2, FGF2, KDR, PDGFRB, TGFB1, TIMP2
26
Show member pathways
8.9FGF2, KDR, MMP3, MMP9, TGFB1, TIMP2
27
Show member pathways
8.6FGF2, KDR, MMP3, MMP9, PDGFRB, TGFB1
28
Show member pathways
8.1ACTA2, FGF2, KDR, MMP3, MMP9, PDGFRB
29
Show member pathways
8.1ACTA2, FGF2, GUCY1A3, KDR, PDGFRB, TGFB1

GO Terms for genes affiliated with Moyamoya Disease

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Cellular components related to Moyamoya Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.2MMP3, MMP9, TGFB1, TIMP2, VEGFA

Biological processes related to Moyamoya Disease according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1hyaluronan catabolic processGO:003021410.7FGF2, TGFB1
2negative regulation of blood vessel endothelial cell migrationGO:004353710.7FGF2, TGFB1
3positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathwayGO:003803310.6KDR, VEGFA
4positive regulation of chemotaxisGO:005092110.6PDGFRB, TGFB1
5positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:003809110.5PDGFRB, VEGFA
6positive regulation of phospholipase C activityGO:001086310.5FGF2, PDGFRB
7positive regulation of positive chemotaxisGO:005092710.5KDR, VEGFA
8lens fiber cell differentiationGO:007030610.5SIX3, TGFB1
9positive regulation of blood vessel endothelial cell migrationGO:004353610.5FGF2, TGFB1, VEGFA
10positive regulation of cell divisionGO:005178110.5FGF2, TGFB1, VEGFA
11cell migration involved in sprouting angiogenesisGO:000204210.4FGF2, KDR, VEGFA
12extracellular matrix disassemblyGO:002261710.4MMP3, MMP9, TIMP2
13positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.3FGF2, PDGFRB, TGFB1
14angiogenesisGO:000152510.2FGF2, KDR, RNF213, VEGFA
15positive regulation of peptidyl-serine phosphorylationGO:003313810.2RPTOR, TGFB1, VEGFA
16vasculogenesisGO:000157010.2KDR, TGFB1, VEGFA
17positive regulation of MAP kinase activityGO:004340610.0FGF2, PDGFRB, TGFB1, VEGFA
18positive regulation of ERK1 and ERK2 cascadeGO:007037410.0FGF2, KDR, PDGFRB, TGFB1
19positive regulation of endothelial cell proliferationGO:000193810.0FGF2, KDR, RPTOR, VEGFA
20positive regulation of protein phosphorylationGO:00019349.9KDR, MMP9, TGFB1, VEGFA
21positive regulation of cell proliferationGO:00082849.8FGF2, KDR, PDGFRB, TGFB1, VEGFA
22positive regulation of cell migrationGO:00303359.7KDR, MMP9, PDGFRB, TGFB1, VEGFA
23wound healingGO:00420609.7FGF2, PDGFRB, TGFB1

Molecular functions related to Moyamoya Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor receptor bindingGO:00051619.9PDGFRB, VEGFA

Sources for Moyamoya Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet