MYMY1
MCID: MYM013
MIFTS: 54

Moyamoya Disease 1 (MYMY1)

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

Aliases & Classifications for Moyamoya Disease 1

MalaCards integrated aliases for Moyamoya Disease 1:

Name: Moyamoya Disease 1 56 29 6 71
Moyamoya Disease 56 12 74 52 25 53 58 36 29 13 54 6 43 15 71 32
Spontaneous Occlusion of the Circle of Willis 56 52 25
Progressive Intracranial Arterial Occlusion 12 25
Mymy 56 52
Progressive Intracranial Occlusive Arteropathy 25
Cerebrovascular Moyamoya Disease 25
Idiopathic Moyamoya Disease 58
Moyamoya Disease; Mymy 56
Moyamoya Syndrome 52
Moya-Moya Disease 25
Mymy1 56

Characteristics:

Orphanet epidemiological data:

58
moyamoya disease
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,X-linked recessive; Prevalence: 1-9/1000000 (France); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
moyamoya disease 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:13099
OMIM 56 252350
OMIM Phenotypic Series 56 PS252350
KEGG 36 H01396
ICD9CM 34 437.5
MeSH 43 D009072
NCIt 49 C84895
SNOMED-CT 67 69116000 89142007
ICD10 32 I67.5
MESH via Orphanet 44 C536991 D009072
ICD10 via Orphanet 33 I67.5
UMLS via Orphanet 72 C0026654 C2931384
Orphanet 58 ORPHA2573
MedGen 41 C2931384
UMLS 71 C0026654 C2931384

Summaries for Moyamoya Disease 1

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. Moyamoya disease commonly begins either around age 5 or in a person's thirties or forties. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes, and seizures. In addition, the fragile blood vessels that grow can develop bulges (aneurysms), or they can break open, leading to bleeding (hemorrhage) in the brain. Affected individuals may develop recurrent headaches, involuntary jerking movements (chorea), or a decline in thinking ability. The symptoms of moyamoya disease often worsen over time if the condition is not treated. Some people have the blood vessel changes characteristic of moyamoya disease in addition to features of another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves disease. These individuals are said to have moyamoya syndrome.

MalaCards based summary : Moyamoya Disease 1, also known as moyamoya disease, is related to hemiplegia and vascular disease. An important gene associated with Moyamoya Disease 1 is GUCY1A1 (Guanylate Cyclase 1 Soluble Subunit Alpha 1), and among its related pathways/superpathways is Vascular smooth muscle contraction. The drugs Xylometazoline and Platelet Aggregation Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and thyroid, and related phenotypes are telangiectasia and intellectual disability

Disease Ontology : 12 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.

NIH Rare Diseases : 52 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 .

OMIM : 56 Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion associated with telangiectatic vessels in the region of the basal ganglia. The Japanese word moyamoya means 'something hazy like a puff of cigarette smoke, drifting in the air.' Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults (summary by Suzuki, 1986). (252350)

NINDS : 53 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 and is found in individuals 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. Adults may also experience these symptoms that arise from blocked arteries, but more often experience a hemorrhagic stroke due to bleeding into the brain.  Other symptoms may include: headaches seizures disturbed consciousness involuntary movements vision problems cognitive and/or sensory impairment. Some individuals with Moyamoya disease have 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.

KEGG : 36 Moyamoya disease is a rare cerebrovascular disease characterized by a progressive stenosis or occlusion of the terminal portion of the internal carotid artery. This disease is associated with the compensatory development of abnormally thin and fragile collateral vessels at the base of the brain.

Wikipedia : 74 Moyamoya disease is a disease in which certain arteries in the brain are constricted. Blood flow is... more...

Related Diseases for Moyamoya Disease 1

Diseases in the Moyamoya Disease 1 family:

Moyamoya Disease 2 Moyamoya Disease 3
Moyamoya Disease 5

Diseases related to Moyamoya Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 562)
# Related Disease Score Top Affiliating Genes
1 hemiplegia 31.5 RNF213 PLG GUCY1A1 ACTA2
2 vascular disease 31.3 SERPINC1 PLG MTHFR MIR125A FGF2 ACTA2
3 branch retinal artery occlusion 30.8 SERPINC1 PLG MTHFR
4 thrombophilia 30.7 SERPINC1 PLG MTHFR
5 retinal artery occlusion 30.7 SERPINC1 PLG MTHFR ACTA2
6 central retinal artery occlusion 30.7 SERPINC1 PLG ACTA2
7 intracranial embolism 30.6 SERPINC1 PLG
8 pulmonary hypertension 30.5 SERPINC1 PLG FGF2 ACTA2
9 sudden sensorineural hearing loss 30.4 SERPINC1 MTHFR
10 antithrombin iii deficiency 30.4 SERPINC1 PLG MTHFR
11 thrombophilia due to activated protein c resistance 30.4 SERPINC1 PLG MTHFR
12 central retinal vein occlusion 30.4 SERPINC1 PLG MTHFR
13 sagittal sinus thrombosis 30.3 SERPINC1 PLG
14 retinal vascular disease 30.3 PLG MTHFR FGF2
15 atrial heart septal defect 30.1 SERPINC1 PLG MTHFR
16 microcephalic osteodysplastic primordial dwarfism, type ii 11.5
17 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 11.2
18 moyamoya disease 2 11.2
19 moyamoya disease 3 11.2
20 moyamoya disease 5 11.2
21 moyamoya disease 6 with or without achalasia 11.2
22 cerebrovascular disease 10.8
23 transient cerebral ischemia 10.7
24 aneurysm 10.7
25 spinal cord infarction 10.6 SERPINC1 MTHFR
26 basilar artery occlusion 10.6 PLG DFFA
27 cerebral atherosclerosis 10.6 TREX1 RNF213 MTHFR
28 marantic endocarditis 10.6 SERPINC1 PLG MTHFR
29 lateral sinus thrombosis 10.6 SERPINC1 MTHFR
30 livedoid vasculitis 10.6 SERPINC1 PLG MTHFR
31 intracranial sinus thrombosis 10.6 SERPINC1 PLG MTHFR
32 thoracic outlet syndrome 10.5 SERPINC1 PLG
33 intracranial thrombosis 10.5 SERPINC1 PLG MTHFR
34 neuroma 10.5 NF1 FGF2 ACTA2
35 hepatic veno-occlusive disease 10.5 SERPINC1 PLG FGF2
36 leech infestation 10.5 SERPINC1 PLG
37 thrombophlebitis 10.5 SERPINC1 PLG MTHFR
38 retinal vascular occlusion 10.5 SERPINC1 PLG MTHFR
39 cholesterol embolism 10.5 SERPINC1 PLG
40 inherited blood coagulation disease 10.5 SERPINC1 PLG MTHFR
41 blood coagulation disease 10.5 SERPINC1 PLG MTHFR
42 pulmonary artery disease 10.5 SERPINC1 PLG MTHFR
43 aphasia 10.5
44 transient global amnesia 10.5 TREX1 PCLO
45 vein disease 10.5 SERPINC1 PLG MTHFR
46 osteonecrosis 10.5 SERPINC1 PLG MTHFR FGF2
47 varicose veins 10.5 SERPINC1 MTHFR FGF2
48 down syndrome 10.5
49 basilar artery insufficiency 10.5 PLG DFFA
50 headache 10.5

Graphical network of the top 20 diseases related to Moyamoya Disease 1:



Diseases related to Moyamoya Disease 1

Symptoms & Phenotypes for Moyamoya Disease 1

Human phenotypes related to Moyamoya Disease 1:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 telangiectasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001009
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
4 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
5 abnormality of the cerebral vasculature 58 31 frequent (33%) Frequent (79-30%) HP:0100659
6 inflammatory arteriopathy 31 HP:0005291
7 carotid artery occlusion 31 HP:0012474

Symptoms via clinical synopsis from OMIM:

56
Vascular:
inflammatory arteriopathy
bilateral intracranial carotid artery occlusion
basal ganglia telangiectases

Clinical features from OMIM:

252350

MGI Mouse Phenotypes related to Moyamoya Disease 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.23 ACTA2 FGF2 GUCY1A1 MTHFR NF1 PLG

Drugs & Therapeutics for Moyamoya Disease 1

Drugs for Moyamoya Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Xylometazoline Approved, Investigational Phase 3 526-36-3 5709
2 Platelet Aggregation Inhibitors Phase 3
3 3-n-butylphthalide Phase 3
4 Protective Agents Phase 3
5 Pharmaceutical Solutions Phase 3
6 Neuroprotective Agents Phase 3
7 Anesthetics Phase 1, Phase 2
8
Sevoflurane Approved, Vet_approved 28523-86-6 5206
9
Mannitol Approved, Investigational 69-65-8 453 6251
10
Glycerol Approved, Investigational 56-81-5 753
11
Dalteparin Approved 9005-49-6
12
Heparin Approved, Investigational 9005-49-6 772 46507594
13 Xenon Experimental 7440-63-3
14 Vasodilator Agents
15 Anticonvulsants
16 Anesthetics, General
17 Central Nervous System Depressants
18 Anesthetics, Inhalation
19 Hematinics
20 Epoetin alfa 113427-24-0
21 Antihypertensive Agents
22 Hydroxymethylglutaryl-CoA Reductase Inhibitors
23 Hypoglycemic Agents
24 Heparin, Low-Molecular-Weight
25 calcium heparin

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 The Adult Hemorrhagic Moyamoya Surgery Study Active, not recruiting NCT02319980 Phase 3
2 A Multi-center, Randomized, Single-blind, Placebo-controlled Study of Dl-3-n-butylphthalide in Patients With Moyamoya Disease of High Risk for Ischemic Cerebrovascular Events After Extracranial-to-intracranial Revascularization Surgery Not yet recruiting NCT04205578 Phase 3 dl-3-n-butylphthalide (NBP);Normal Saline 0.9% Infusion Solution
3 Feasibility Study of Multiple Burrhole Therapy Combined With Intravenous Erythropoietin Pretreatment for Unstable Moyamoya Completed NCT03162588 Phase 1, Phase 2 erythropoietin
4 EEG Finding in Moyamoya Disease in Children Unknown status NCT03173014
5 Direct Bypass Versus Indirect Bypass in Treatment of Adults Hemorrhagic Moyamoya Disease:a Prospective Multi-center Cohort Study Unknown status NCT02982135
6 Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke Unknown status NCT02074111
7 Effect of Sevoflurane-induced Postconditioning on the Incidence of Postoperative Cerebral Hyperperfusion Syndrome After Revascularization Surgery in Adult Patients With Moyamoya Disease Unknown status NCT02510586 Sevoflurane
8 Characteristics and Outcomes of Childhood Moyamoya in the UK Unknown status NCT02434302
9 Neurocognitive and Radiological Assessments in Adult Patients With Moyamoya Disease Undergoing Surgical Revascularization Unknown status NCT02305407
10 Comparison of Two Needle Insertion Techniques on Success Rate and Complications During Subclavian Venous Catheterization: Seldinger vs. Modified Seldinger Technique Unknown status NCT02090010
11 Prospective Observation for Serial Changes of Acute Intracranial Artery Dissection Using High Resolution MRI Unknown status NCT02914288
12 Prospective Observation for Serial Changes in Acute Intracranial Artery Dissection Using HR-MRI Unknown status NCT03213470
13 Quantifying Collateral Perfusion in Cerebrovascular Disease-Moyamoya Disease and Stroke Patients Completed NCT01419275 Xenon contrast agent
14 The Role of Cerebral Hemodynamics in Moyamoya Disease Completed NCT00629915
15 Effects of Remote Ischemic Preconditioning With Postconditioning in Patients Undergoing Superficial Temporal Artery-middle Cerebral Artery (STA-MCA) Anastomosis Completed NCT03072914
16 The Effect of Recombinant Human Erythropoietin on the Postoperative Neurologic Outcome in Pediatric Moyamoya Disease Patients - A Double Blind Randomized Controlled Trial Recruiting NCT03882060 erythropoietin;Normal saline
17 Relationship Between Endothelial Progenitor Cells and Revascularization Effect of Moyamoya Disease Recruiting NCT03613701
18 A Study on Internal Carotid Artery Blood Flow Velocity in Children With Moyamoya Disease Undergoing Surgery: a Prospective Observational Study Recruiting NCT04134221
19 Effect of Surgical Revascularization and Conservative Treatment on Hemorrhagic Moyamoya Disease Recruiting NCT03627975
20 The Safety and Effect of Remote Ischemic Conditioning on Adult Moyamoya Disease Recruiting NCT04012268
21 Multimodal Magnetic Resonance Imaging Predicting Outcome After Surgical Revascularization in Patients With Moyamoya Disease Recruiting NCT03785171
22 Multimodal Neuronavigation Guiding Precision Bypass in Adult Ischemic Patients With Moyamoya Disease Recruiting NCT03516851
23 Intracranial Artery Stenosis Magnetic Resonance Imaging: Aetiology and Progression (ICASMAP) Recruiting NCT03417063
24 Remote Ischemic Conditioning Prevents Ischemic Cerebrovascular Events In Children With Moyamoya Disease: A Randomized Controlled Trial Not yet recruiting NCT03821181
25 Safety and Efficacy of Remote Ischemic Conditioning in Pediatric Moyamoya Disease Patients Treated With Revascularization Therapy Not yet recruiting NCT03546309
26 Efficacy and Safety of rTMS for Cognitive Rehabilitation in Moyamoya Disease Not yet recruiting NCT03543748
27 Effects of Remote Ischemic Pre-Conditioning on Neurologic Complications in Adult Ischemic Moyamoya Disease Patients Undergoing Encephaloduroarteriosynangiosis Suspended NCT04064658

Search NIH Clinical Center for Moyamoya Disease 1

Cochrane evidence based reviews: moyamoya disease

Genetic Tests for Moyamoya Disease 1

Genetic tests related to Moyamoya Disease 1:

# Genetic test Affiliating Genes
1 Moyamoya Disease 1 29
2 Moyamoya Disease 29

Anatomical Context for Moyamoya Disease 1

MalaCards organs/tissues related to Moyamoya Disease 1:

40
Brain, Heart, Thyroid, Endothelial, Testes, Smooth Muscle, Pituitary

Publications for Moyamoya Disease 1

Articles related to Moyamoya Disease 1:

(show top 50) (show all 3145)
# Title Authors PMID Year
1
Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity. 61 6
22931863 2012
2
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. 61 6
22377813 2012
3
Analysis of ACTA2 in European Moyamoya disease patients. 61 6
20970362 2011
4
Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. 61 6
21799892 2011
5
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. 61 6
21048783 2011
6
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 61 6
19409525 2009
7
A novel susceptibility locus for moyamoya disease on chromosome 8q23. 61 56
15362573 2004
8
Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. 61 56
10754001 2000
9
Linkage analysis of moyamoya disease on chromosome 6. 61 56
10757474 2000
10
Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. 61 56
9973290 1999
11
A clinical comparison of definite moyamoya disease between South Korea and Japan. 61 56
9412642 1997
12
Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis. 61 56
8724642 1996
13
Ito hypomelanosis and moyamoya disease. 61 56
8534285 1995
14
Human leukocyte antigen in patients with moyamoya disease. 61 56
7886716 1995
15
Moyamoya disease in three siblings--follow-up study with magnetic resonance angiography (MRA). 61 56
7791948 1995
16
Moyamoya disease in childhood: a familial case report. 61 56
8402703 1993
17
Worldwide distribution of moyamoya disease. 61 56
1282678 1992
18
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 6
24998021 2014
19
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 6
20734336 2010
20
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 6
17994018 2007
21
Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum? 6
15472996 2004
22
Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? 6
14730227 2004
23
Moyamoya syndrome in childhood sickle cell disease: a predictive factor for recurrent cerebrovascular events. 56
11964276 2002
24
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. 6
10532176 1999
25
Neurofibromatosis cerebral vasculopathy in an infant: clinical, neuroradiographic, and neuropathologic studies. 56
1409159 1992
26
Moya-moya disease associated with renal artery stenosis. 56
7247776 1981
27
Familial occurrence of intracranial arterial occlusive disease (Moyamoya) in neurofibromatosis. 56
6777096 1980
28
Primary and acquired forms of moyamoya syndrome. A review and three case reports. 56
7399866 1980
29
Familial occurrence of moya-moya disease: report of three Japanese families. 56
438828 1979
30
A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease. 54 61
16475235 2006
31
Role of basic fibroblast growth factor in the pathogenesis of moyamoya disease. 54 61
17112205 1998
32
Differences in cellular responses to mitogens in arterial smooth muscle cells derived from patients with moyamoya disease. 54 61
9626293 1998
33
Evaluation of cytokines in cerebrospinal fluid from patients with moyamoya disease. 54 61
9409441 1997
34
Angiogenic factors in moyamoya disease. 54 61
8969773 1996
35
Is "unilateral" moyamoya disease different from moyamoya disease? 54 61
8893713 1996
36
The cerebrospinal fluid in patients with moyamoya disease (spontaneous occlusion of the circle of Willis) contains high level of basic fibroblast growth factor. 54 61
8247356 1993
37
[Angiogenesis on encephalo-myo-synangiosis. The effect of basic fibroblast growth factor]. 54 61
7694557 1993
38
Possible roles of basic fibroblast growth factor in the pathogenesis of moyamoya disease: an immunohistochemical study. 54 61
2072165 1991
39
Moyamoya disease associated with fibromuscular dysplasia of intrapulmonary bronchial arteries-a case report. 61
31869771 2020
40
Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension. 61
31542298 2020
41
[Hemorrhagic moyamoya disease]. 61
32030929 2020
42
Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis? 61
31806452 2020
43
Validation and Application for the Berlin Grading System of Moyamoya Disease in Adult Patients. 61
30864668 2020
44
Functional Outcomes After Revascularization Procedures in Patients With Hemorrhagic Moyamoya Disease. 61
30989221 2020
45
Reversible Cerebral Angiopathy after Viral Infection in a Pediatric Patient with Genetic Variant of RNF213. 61
31818681 2020
46
Risk factors and outcomes of intravenous tissue plasminogen activator and endovascular thrombectomy utilization amongst pediatrics acute ischemic stroke. 61
32009581 2020
47
Paradoxical Critical Hyperkalemia After Acetazolamide for Cerebrovascular Reactivity Study: A Case Report. 61
31770135 2020
48
Lenticulostriate Artery Aneurysm: 2-Dimensional Operative Video. 61
31758188 2020
49
Author Correction: Insufficient production of IL-10 from M2 macrophages impairs in vitro endothelial progenitor cell differentiation in patients with Moyamoya disease. 61
32024942 2020
50
Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease. 61
31949090 2020

Variations for Moyamoya Disease 1

ClinVar genetic disease variations for Moyamoya Disease 1:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GUCY1A1 NM_000856.6(GUCY1A1):c.1258C>T (p.Arg420Ter)SNV Pathogenic 559596 rs373182378 4:156634421-156634421 4:155713269-155713269
2 GUCY1A1 NM_000856.6(GUCY1A1):c.1550G>A (p.Cys517Tyr)SNV Pathogenic 559597 rs751701114 4:156634713-156634713 4:155713561-155713561
3 GUCY1A1 NM_000856.6(GUCY1A1):c.332_333GA[1] (p.Glu112fs)short repeat Pathogenic 559598 rs781020381 4:156629401-156629402 4:155708249-155708250
4 ACTA2 NM_001613.4(ACTA2):c.201G>C (p.Leu67=)SNV Conflicting interpretations of pathogenicity 136278 rs199773697 10:90707072-90707072 10:88947315-88947315
5 ACTA2 NM_001613.4(ACTA2):c.420G>A (p.Ala140=)SNV Conflicting interpretations of pathogenicity 264091 rs762567614 10:90701576-90701576 10:88941819-88941819
6 ACTA2 NM_001613.4(ACTA2):c.808+14G>ASNV Conflicting interpretations of pathogenicity 301507 rs774120023 10:90699250-90699250 10:88939493-88939493
7 ACTA2 NM_001613.4(ACTA2):c.390T>C (p.Asn130=)SNV Conflicting interpretations of pathogenicity 301509 rs141933412 10:90701606-90701606 10:88941849-88941849
8 ACTA2 , FAS NM_000043.6(FAS):c.-10C>ASNV Uncertain significance 301521 rs200181814 10:90750624-90750624 10:88990867-88990867
9 ACTA2 NM_001613.4(ACTA2):c.*122T>CSNV Uncertain significance 301503 rs886047451 10:90694858-90694858 10:88935101-88935101
10 ACTA2 NM_001613.4(ACTA2):c.*105G>TSNV Uncertain significance 301504 rs149059995 10:90694875-90694875 10:88935118-88935118
11 ACTA2 NM_001613.4(ACTA2):c.*28A>TSNV Uncertain significance 301506 rs143005546 10:90694952-90694952 10:88935195-88935195
12 ACTA2 NM_001613.4(ACTA2):c.-56C>TSNV Uncertain significance 301512 rs886047454 10:90712520-90712520 10:88952763-88952763
13 ACTA2 NM_001613.4(ACTA2):c.*43A>GSNV Uncertain significance 301505 rs886047452 10:90694937-90694937 10:88935180-88935180
14 ACTA2 NM_001613.4(ACTA2):c.13G>C (p.Glu5Gln)SNV Uncertain significance 301511 rs886047453 10:90708675-90708675 10:88948918-88948918
15 ACTA2 NM_001141945.2(ACTA2):c.-23-3869A>GSNV Uncertain significance 301513 rs886047455 10:90712579-90712579 10:88952822-88952822
16 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+399C>TSNV Uncertain significance 301516 rs886047456 10:90750297-90750297 10:88990540-88990540
17 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+236C>TSNV Uncertain significance 301518 rs886047457 10:90750460-90750460 10:88990703-88990703
18 ACTA2 NM_001613.4(ACTA2):c.369+7A>GSNV Uncertain significance 301510 rs760471677 10:90703547-90703547 10:88943790-88943790
19 ACTA2 NR_125373.1(ACTA2-AS1):n.690C>TSNV Likely benign 368929 rs367977687 10:90694822-90694822 10:88935065-88935065
20 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+409G>ASNV Likely benign 301515 rs56220100 10:90750287-90750287 10:88990530-88990530
21 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+414_-24+415deldeletion Likely benign 301514 rs553556054 10:90750281-90750282 10:88990524-88990525
22 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+357C>TSNV Likely benign 301517 rs9658677 10:90750339-90750339 10:88990582-88990582
23 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+157C>TSNV Benign/Likely benign 301519 rs2274355 10:90750539-90750539 10:88990782-88990782
24 ACTA2 , FAS NM_000043.6(FAS):c.-34A>GSNV Benign/Likely benign 301520 rs5030766 10:90750600-90750600 10:88990843-88990843
25 ACTA2 NM_001613.4(ACTA2):c.417G>A (p.Gln139=)SNV Benign/Likely benign 301508 rs111265233 10:90701579-90701579 10:88941822-88941822

Copy number variations for Moyamoya Disease 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 106905 17 1 78774742 Deletion Moyamoya disease

Expression for Moyamoya Disease 1

Search GEO for disease gene expression data for Moyamoya Disease 1.

Pathways for Moyamoya Disease 1

Pathways related to Moyamoya Disease 1 according to KEGG:

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# Name Kegg Source Accession
1 Vascular smooth muscle contraction hsa04270

GO Terms for Moyamoya Disease 1

Biological processes related to Moyamoya Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ras protein signal transduction GO:0007265 8.8 NF1 MRAS FGF2

Sources for Moyamoya Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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