MCID: MYM002
MIFTS: 58

Moyamoya Disease malady

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

Aliases & Classifications for Moyamoya Disease

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Sources:
45NIH Rare Diseases, 65UMLS, 49OMIM, 10Disease Ontology, 11diseasecard, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Moyamoya Disease:

Name: Moyamoya Disease 49 10 11 45 23 46 47 12 51 36 65
Moyamoya Disease 1 45 24 65
Spontaneous Occlusion of the Circle of Willis 45 23
Progressive Intracranial Arterial Occlusion 10 23
Moyamoya Disease 3 45 65
Moyamoya Disease 2 45 65
Progressive Intracranial Occlusive Arteropathy 23
 
Cerebrovascular Moyamoya Disease 23
Moyamoya Disease, Secondary 45
Moyamoya Disease, Primary 45
Moyamoya Syndrome 45
Moya-Moya Disease 23
Mymy 45

Characteristics:

Orphanet epidemiological data:

51
moyamoya disease:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (France); Age of onset: All ages

HPO:

61
moyamoya disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 252350
Disease Ontology10 DOID:13099
ICD1027 I67.5
ICD9CM29 437.5
MeSH36 D009072
SNOMED-CT59 69116000, 89142007
NCIt42 C84895
Orphanet51 2573
UMLS via Orphanet66 C0026654, C2931384
ICD10 via Orphanet28 I67.5
MESH via Orphanet37 C536991, D009072
UMLS65 C0026654, C2931384, C1846689 C1837418, more

Summaries for Moyamoya Disease

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NIH Rare Diseases:45 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 based summary: Moyamoya Disease, also known as moyamoya disease 1, is related to hypothalamic disease and renal cell carcinoma, and has symptoms including seizures, ventriculomegaly and cognitive impairment. An important gene associated with Moyamoya Disease is RNF213 (Ring Finger Protein 213), and among its related pathways are Matrix Metalloproteinases and Cell adhesion_ECM remodeling. Affiliated tissues include brain, testes and breast, and related mouse phenotypes are muscle and limbs/digits/tail.

Disease Ontology:10 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.

NINDS:46 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.

Genetics Home Reference:23 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.

OMIM:49 Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion... (252350) more...

Wikipedia:68 Moyamoya syndrome 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 469)
idRelated DiseaseScoreTop Affiliating Genes
1hypothalamic disease30.0MMP9, TGFB1, VEGFA
2renal cell carcinoma28.7HGF, KDR, MMP9, TGFB1, VEGFA
3myocardial infarction28.5GUCY1A3, HGF, KDR, MMP3, MTHFR, VEGFA
4moyamoya disease 512.6
5moyamoya disease 212.6
6moyamoya disease 312.5
7moyamoya disease with early-onset achalasia12.5
8moyamoya 6 with achalasia11.9
9moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome11.3
10entropion10.4MMP3, MMP9
11anterior cerebral artery infarction10.4ACTA2, GUCY1A3, RNF213
12spastic quadriplegia10.4ACTA2, GUCY1A3, RNF213
13neurofibromatosis, type 210.4MMP3, MMP9
14immunodeficiency 27b, mycobacteriosis, ad10.4MMP3, MMP9
15leukemia10.3
16cerebritis10.3
17neuronitis10.3
18anterograde amnesia10.3MMP3, MMP9, TIMP2
19conjunctival disease10.3MMP3, MMP9, TIMP2
20prostatitis10.3
21adenocarcinoma10.3
22endotheliitis10.3
23septicemic plague10.3MMP3, MMP9
24renal pelvis adenocarcinoma10.3MMP9, VEGFA
25bladder urachal adenocarcinoma10.3MMP3, MMP9, TIMP2
26prostate cancer10.3
27lymphoma10.3
28ganglion or cyst of synovium/tendon/bursa10.3MMP9, VEGFA
29gastric squamous cell carcinoma10.3MMP9, TIMP2
30pancreatitis10.3
31papillary craniopharyngioma10.2MMP9, VEGFA
32thyroiditis10.2
33neuropathy10.2
34common bile duct neoplasm10.2MMP9, TIMP2, VEGFA
35adenosarcoma of the uterus10.2MMP9, TIMP2, VEGFA
36lower lip cancer10.2MMP3, MMP9, VEGFA
37angioimmunoblastic lymphadenopathy with dysproteinemia10.2MTHFR, SIX3
38breast cancer10.2
39hepatitis10.2
40retinitis10.2
41pelizaeus-merzbacher-like disease due to gjc2 mutation10.2SIX3, ZIC2
42alobar holoprosencephaly10.2SIX3, ZIC2
43hemiplegia alterans10.2MTHFR, VEGFA
44spasticity-intellectual disability-x-linked epilepsy syndrome10.1SIX3, ZIC2
45x-linked dominant intellectual disability-epilepsy syndrome10.1SIX3, ZIC2
46tenosynovitis of foot and ankle10.1MMP9, TGFB1, VEGFA
47hepatocellular adenoma10.1MMP9, TGFB1, VEGFA
48obesity10.1
49severe combined immunodeficiency10.1
50spondyloarthropathy10.1

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



Diseases related to moyamoya disease

Symptoms for Moyamoya Disease

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Symptoms by clinical synopsis from OMIM:

252350

Clinical features from OMIM:

252350

Symptoms:

 51
  • vascular anomalies of skin/mucosae
  • autosomal recessive inheritance
  • dilated cerebral ventricles without hydrocephaly
  • cerebral vascular anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Moyamoya Disease:

(show all 6)
id Description Frequency HPO Source Accession
1 seizures typical (50%) HP:0001250
2 ventriculomegaly typical (50%) HP:0002119
3 cognitive impairment typical (50%) HP:0100543
4 abnormality of the cerebral vasculature typical (50%) HP:0100659
5 inflammatory arteriopathy HP:0005291
6 telangiectasia HP:0001009

Drugs & Therapeutics for Moyamoya Disease

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
XylometazolineapprovedPhase 366526-36-35709
Synonyms:
 
Balminil
Xylomethazoline
2
Sevofluraneapproved42928523-86-65206
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
3Xenon59
4Vasodilator Agents2926
5Antihypertensive Agents3618
6Anticonvulsants2249
7Platelet Aggregation Inhibitors1935
8Central Nervous System Depressants10016
9Anesthetics7385
10Anesthetics, General2274
11Anesthetics, Inhalation511

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1The Adult Hemorrhagic Moyamoya Surgery StudyActive, not recruitingNCT02319980Phase 3
2Quantifying Collateral Perfusion in Cerebrovascular Disease-Moyamoya Disease and Stroke PatientsCompletedNCT01419275
3Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic StrokeRecruitingNCT02074111
4Characteristics and Outcomes of Childhood Moyamoya in the UKRecruitingNCT02434302
5Neurocognitive and Radiological Assessments in Adult Moyamoya Undergoing SurgeryRecruitingNCT02305407
6Subclavian Vein catheterization_Seldinger Vs Modified SeldingerRecruitingNCT02090010
7Stroke Imaging Package StudyRecruitingNCT02485275
8Characterizing Hemodynamic Compensation in Patients With Intracranial StenosisRecruitingNCT02506907
9The Role of Cerebral Hemodynamics in Moyamoya DiseaseActive, not recruitingNCT00629915
10Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE SyndromeActive, not recruitingNCT01018082
11Sevoflurane 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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Anatomical Context for Moyamoya Disease

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MalaCards organs/tissues related to Moyamoya Disease:

33
Brain, Testes, Breast, Bone, Lung, T cells, Skin

Animal Models for Moyamoya Disease or affiliated genes

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MGI Mouse Phenotypes related to Moyamoya Disease:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5ACTA2, GUCY1A3, KDR, MMP9, RPTOR, TGFB1
2MP:00053718.4CRABP1, MMP9, MTHFR, RAI1, VEGFA, ZIC2
3MP:00053888.2GUCY1A3, KDR, MMP9, RAI1, SHOC2, SIX3
4MP:00053808.0HGF, KDR, RPTOR, SHOC2, SIX3, TGFB1
5MP:00053917.9ACTA2, GUCY1A3, KDR, MMP9, MTHFR, SIX3
6MP:00053857.1ACTA2, GUCY1A3, HGF, KDR, MMP9, RNF213
7MP:00036316.9GUCY1A3, KDR, MMP3, MMP9, MTHFR, RAI1
8MP:00053766.8GUCY1A3, KDR, MMP3, MMP9, MTHFR, RAI1
9MP:00053906.8KDR, MMP3, MMP9, MTHFR, RAI1, RPTOR
10MP:00053786.3HGF, KDR, MMP9, MTHFR, RAI1, RNF213
11MP:00107685.8CRABP1, GUCY1A3, HGF, KDR, MMP9, MTHFR

Publications for Moyamoya Disease

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Articles related to Moyamoya Disease:

(show top 50)    (show all 610)
idTitleAuthorsYear
1
Coexisting epithelioid trophoblastic tumor and placental site trophoblastic tumor of the uterus following a term pregnancy: report of a case and review of literature. (26261623)
2015
2
Carbon ion beam treatment in patients with primary and recurrent sacrococcygeal chordoma. (25737378)
2015
3
Diagnostic value of circulating chromogranin a for neuroendocrine tumors: a systematic review and meta-analysis. (25894842)
2015
4
Prevalence of Gardnerella vaginalis and Atopobium vaginae in Portuguese women and association with risk factors for bacterial vaginosis. (24268352)
2014
5
Bax Inhibitor-1-mediated Ca2+ leak is decreased by cytosolic acidosis. (23867001)
2013
6
Transcription factor Nrf2-mediated antioxidant defense system in the development of diabetic retinopathy. (23633659)
2013
7
Renal Cell Carcinoma with venous neoplastic thrombosis: A ten years review. (24399117)
2013
8
Characteristics of Long Noncoding RNA and Its Relation to Hepatocellular Carcinoma. (24296588)
2013
9
HCVAD plus imatinib or dasatinib in lymphoid blastic phase chronic myeloid leukemia. (24151050)
2013
10
A multivariate analysis of factors influencing the drain permanence in breast reconstruction with Becker implant. (23218654)
2013
11
Nontraumatic osteonecrosis of the femoral head: endoscopic visualization of its avascular burden. (22955395)
2012
12
Clinical and prognostic implications of low or high level of von Willebrand factor in patients with Waldenstrom macroglobulinemia. (22896002)
2012
13
The pathophysiology of echopraxia/echolalia: relevance to Gilles de la Tourette syndrome. (22807284)
2012
14
Magnetic resonance imaging findings and outcome of neuro-BehAset's disease: the predictive factors. (23253242)
2012
15
Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58). (20023287)
2010
16
Stable bronchiectasis is associated with low serum L-ficolin concentrations. (20298369)
2009
17
Shared TP53 gene mutation in morphologically and phenotypically distinct concurrent primary small cell neuroendocrine carcinoma and adenocarcinoma of the prostate. (19125417)
2009
18
Utility of C-reactive protein in assessing the disease severity and complications of community-acquired pneumonia. (19548923)
2009
19
Molecular cloning, tissue distribution and ontogenetic expression of the amino acid transporter b(0,+) cDNA in the small intestine of Tibetan suckling piglets. (19501668)
2009
20
Dominant antigenic peptides located at the heavy chain terminal of botulinum neurotoxin B contain receptor-binding sites for synaptotagmin II. (18639519)
2008
21
Characterization of a novel and potent collagen antagonist, caffeic acid phenethyl ester, in human platelets: in vitro and in vivo studies. (17560560)
2007
22
Cancer-germline gene expression in pediatric solid tumors using quantitative real-time PCR. (17019710)
2007
23
Cdt1 and geminin: role during cell cycle progression and DNA damage in higher eukaryotes. (17127409)
2007
24
Augmentation of Fas ligand-induced apoptosis by MUC1 mucin. (15809706)
2005
25
Pharmacological skills for targeting EGFR and VEGF]. (16387665)
2005
26
Long-term treatment of refractory posterior uveitis with anti-TNFalpha (infliximab). (15389273)
2005
27
Function of nuclear factor kappaB in pancreatic cancer metastasis. (12538487)
2003
28
A case of myoepithelioma arising in an accessory parotid gland. (12385366)
2002
29
Videokeratography findings in children with vernal keratoconjunctivitis versus those of healthy children. (12414408)
2002
30
Familial cyclic vomiting syndrome. (12230597)
2002
31
Angiotensin I-converting enzyme gene polymorphism influences chronic hypertensive response in the rat Goldblatt model. (11875308)
2002
32
A colorimetric assay for 7-dehydrocholesterol with potential application to screening for Smith-Lemli-Opitz syndrome. (12047895)
2002
33
Cystinuria at the turn of the millennium: clinical aspects and new molecular developments. (11156709)
2000
34
Angioedema due to losartan. (10492494)
1999
35
Relationship between polyploidy and pollen self-incompatibility phenotype in Petunia hybrida Vilm. (10635553)
1999
36
Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. (10440267)
1999
37
The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. (10090881)
1999
38
Signalling pathways involved in nicotine regulation of apoptosis of human lung cancer cells. (9600337)
1998
39
A functionally deficient DRD2 variant [Ser311Cys] is not linked to alcoholism and substance abuse. (9650635)
1998
40
Immunolocalization of ubiquitin and related enzymes in human retina and retinal pigment epithelium. (9143894)
1997
41
Amyloidogenic processing of human amyloid precursor protein in hippocampal neurons devoid of cathepsin D. (8910296)
1996
42
Evaluation of islet-specific autoantibodies in Japanese patients with insulin-dependent diabetes mellitus: a comparison between autoantibodies to glutamic acid decarboxylase, autoantibodies to 64 kDa islet cell protein and islet cell antibodies. (7888036)
1994
43
Prophylactic oophorectomy of benign uterine disease in premenopausal women: 11 years review. (7745370)
1994
44
Identification of RANTES receptors on human monocytic cells: competition for binding and desensitization by homologous chemotactic cytokines. (7679707)
1993
45
Cortical blindness and residual vision: is the "second" visual system in humans capable of more than rudimentary visual perception? (2046931)
1991
46
Is serodiagnosis of herpes simplex encephalitis safe? (3451222)
1987
47
Praziquantil in treatment of heterophyiasis (a preliminary study) (6663122)
1983
48
Partial trisomy and monosomy 21 in an infant with an unusual de novo 21/21 translocation. (6448566)
1980
49
Congenital pulmonary lymphangiectasis. (5058157)
1972
50

Variations for Moyamoya Disease

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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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GO Terms for genes affiliated with Moyamoya Disease

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell differentiationGO:007030610.3SIX3, TGFB1
2positive regulation of protein complex assemblyGO:003133410.3TGFB1, VEGFA
3positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.3TGFB1, VEGFA
4negative regulation of mitotic cell cycleGO:004593010.2TGFB1, TIMP2
5cell migration involved in sprouting angiogenesisGO:000204210.2KDR, VEGFA
6positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathwayGO:003803310.2KDR, VEGFA
7positive regulation of blood vessel endothelial cell migrationGO:004353610.1TGFB1, VEGFA
8extracellular matrix disassemblyGO:00226179.7MMP3, MMP9, TIMP2
9positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.6HGF, TGFB1, VEGFA
10platelet degranulationGO:00025769.5HGF, TGFB1, VEGFA
11blood coagulationGO:00075969.2GUCY1A3, HGF, TGFB1, VEGFA
12positive regulation of cell migrationGO:00303359.2HGF, TGFB1, VEGFA
13positive regulation of angiogenesisGO:00457668.9HGF, KDR, VEGFA

Sources for Moyamoya Disease

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet