MYMY
MCID: MYM013
MIFTS: 52

Moyamoya Disease 1 (MYMY)

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 57 29 73
Moyamoya Disease 57 12 76 53 25 54 59 37 29 13 55 6 44 15 73
Spontaneous Occlusion of the Circle of Willis 57 53 25
Progressive Intracranial Arterial Occlusion 12 25
Mymy 57 53
Progressive Intracranial Occlusive Arteropathy 25
Cerebrovascular Moyamoya Disease 25
Idiopathic Moyamoya Disease 59
Moyamoya Disease; Mymy 57
Moyamoya Syndrome 53
Moya-Moya Disease 25
Mymy1 57

Characteristics:

Orphanet epidemiological data:

59
moyamoya disease
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,X-linked recessive; Prevalence: 1-9/1000000 (France); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
moyamoya disease 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 252350
Disease Ontology 12 DOID:13099
ICD10 33 I67.5
ICD9CM 35 437.5
MeSH 44 D009072
NCIt 50 C84895
SNOMED-CT 68 69116000 89142007
Orphanet 59 ORPHA2573
MESH via Orphanet 45 C536991 D009072
UMLS via Orphanet 74 C0026654 C2931384
ICD10 via Orphanet 34 I67.5
MedGen 42 C2931384
KEGG 37 H01396

Summaries for Moyamoya Disease 1

NINDS : 54 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 1, also known as moyamoya disease, is related to hemiplegia and fibromuscular dysplasia. An important gene associated with Moyamoya Disease 1 is MYMY1 (Moyamoya Disease 1), and among its related pathways/superpathways is Vascular smooth muscle contraction. The drugs Xylometazoline and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and endothelial, and related phenotypes are intellectual disability and seizures

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.

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 : 53 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 syndromeis 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 : 57 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)

Wikipedia : 76 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 243)
# Related Disease Score Top Affiliating Genes
1 hemiplegia 30.0 ACTA2 GUCY1A1 RNF213
2 fibromuscular dysplasia 29.9 OBSCN RNF213
3 perrault syndrome 1 11.1
4 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 11.0
5 moyamoya disease 2 11.0
6 moyamoya disease 3 11.0
7 moyamoya disease 5 11.0
8 moyamoya disease 6 with or without achalasia 11.0
9 ischemia 10.3
10 pseudoxanthoma elasticum 10.3
11 myoclonus 10.3
12 stroke, ischemic 10.3
13 cerebral atherosclerosis 10.2 RNF213 RPSA
14 tolosa-hunt syndrome 10.2 NF1 RPSA
15 arteriovenous malformation 10.2
16 graves' disease 10.2
17 giant cell reparative granuloma 10.2 CALCR NF1
18 neurofibromatosis, type i 10.1
19 obstructive hydrocephalus 10.1 CRLF1 NF1
20 trigeminal nerve neoplasm 10.1 CRLF1 NF1
21 down syndrome 10.1
22 renovascular hypertension 10.1
23 headache 10.1
24 neurilemmoma of the fifth cranial nerve 10.1 CRLF1 NF1
25 hemorrhage, intracerebral 10.1
26 arteriovenous malformations of the brain 10.0
27 epilepsy 10.0
28 aortic coarctation 10.0
29 transient global amnesia 10.0 CRLF1 PCLO
30 juvenile pilocytic astrocytoma 10.0 FGF2 NF1
31 autoimmune disease 10.0
32 arteriovenous fistula 10.0
33 transient cerebral ischemia 10.0
34 carotid artery occlusion 10.0
35 hypoxia 10.0
36 paroxysmal nocturnal hemoglobinuria 10.0
37 hemoglobinuria 10.0
38 scleroderma, familial progressive 9.9
39 isolated growth hormone deficiency, type ia 9.9
40 diabetes mellitus, ketosis-prone 9.9
41 pulmonary hypertension 9.9
42 cerebral hemorrhage 9.9
43 glycogen storage disease 9.9
44 polycystic kidney disease 9.9
45 choreatic disease 9.9
46 hereditary spherocytosis 9.9
47 kidney disease 9.9
48 cerebrovascular disease 9.9
49 dwarfism 9.9
50 hemiplegic migraine 9.9

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



Diseases related to Moyamoya Disease 1

Symptoms & Phenotypes for Moyamoya Disease 1

Symptoms via clinical synopsis from OMIM:

57
Vascular:
inflammatory arteriopathy
bilateral intracranial carotid artery occlusion
basal ganglia telangiectases


Clinical features from OMIM:

252350

Human phenotypes related to Moyamoya Disease 1:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
4 abnormality of the cerebral vasculature 59 32 frequent (33%) Frequent (79-30%) HP:0100659
5 telangiectasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001009
6 inflammatory arteriopathy 32 HP:0005291
7 carotid artery occlusion 32 HP:0012474

Drugs & Therapeutics for Moyamoya Disease 1

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Xylometazoline Approved, Investigational Phase 3,Not Applicable 526-36-3 5709
2 Anesthetics Phase 1, Phase 2,Not Applicable
3 Epoetin alfa Phase 1, Phase 2 113427-24-0
4 Hematinics Phase 1, Phase 2
5
Sevoflurane Approved, Vet_approved Not Applicable 28523-86-6 5206
6
Glucosamine Approved, Investigational Not Applicable 3416-24-8 439213
7
Glycerol Approved, Investigational Not Applicable 56-81-5 753
8
Mannitol Approved, Investigational Not Applicable 69-65-8 453 6251
9 Anesthetics, General Not Applicable
10 Central Nervous System Depressants Not Applicable
11 Platelet Aggregation Inhibitors Not Applicable
12 Anesthetics, Inhalation Not Applicable
13 Hypolipidemic Agents Not Applicable
14 Glucuronyl glucosamine glycan sulfate Not Applicable
15 Hypoglycemic Agents Not Applicable
16 Antimetabolites Not Applicable
17 Anticoagulants Not Applicable
18 Fibrinolytic Agents Not Applicable
19 Lipid Regulating Agents Not Applicable
20 Xenon Not Applicable
21 Vasodilator Agents Not Applicable
22 Antihypertensive Agents Not Applicable
23 Anticonvulsants Not Applicable

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 The Adult Hemorrhagic Moyamoya Surgery Study Active, not recruiting NCT02319980 Phase 3
2 Multiple Burrhole Therapy With Erythropoietin for Unstable Moyamoya Completed NCT03162588 Phase 1, Phase 2 erythropoietin
3 Direct Bypass Versus Indirect Bypass in Treatment of Adults Hemorrhagic Moyamoya Disease Unknown status NCT02982135 Not Applicable
4 Sevoflurane and Hyperperfusion Syndrome Unknown status NCT02510586 Not Applicable Sevoflurane
5 Subclavian Vein catheterization_Seldinger Vs Modified Seldinger Unknown status NCT02090010 Not Applicable
6 Prospective Observation for Serial Changes of Acute Intracranial Artery Dissection Using High Resolution MRI Unknown status NCT02914288
7 Characteristics and Outcomes of Childhood Moyamoya in the UK Unknown status NCT02434302
8 Quantifying Collateral Perfusion in Cerebrovascular Disease-Moyamoya Disease and Stroke Patients Completed NCT01419275 Not Applicable Xenon contrast agent
9 The Role of Cerebral Hemodynamics in Moyamoya Disease Completed NCT00629915
10 Effects of Remote Ischemic Preconditioning With Postconditioning on Neurologic Outcome Completed NCT03072914 Not Applicable
11 Relationship Between Endothelial Progenitor Cells and Revascularization Effect of Moyamoya Disease Recruiting NCT03613701
12 Effect of Surgical Revascularization on Hemorrhagic Moyamoya Disease Recruiting NCT03627975 Not Applicable
13 Predicative Value of Multimodal MRI in Moyamoya Disease Recruiting NCT03785171
14 Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke Recruiting NCT02074111
15 Precision Bypass in Patients With Moyamoya Disease Recruiting NCT03516851 Not Applicable
16 EEG Monitoring in Children With Moyamoya Disease Recruiting NCT03173014
17 Neurocognitive and Radiological Assessments in Adult Moyamoya Undergoing Surgery Recruiting NCT02305407 Not Applicable
18 Intracranial Artery Stenosis Magnetic Resonance Imaging: Aetiology and Progression Recruiting NCT03417063
19 Prospective Observation for Serial Changes in Acute Intracranial Artery Dissection Using HR-MRI Recruiting NCT03213470 Not Applicable
20 Safety and Efficacy of RIC in Pediatric Moyamoya Disease Patients Treated With Revascularization Therapy Not yet recruiting NCT03546309 Not Applicable
21 Efficacy and Safety of rTMS for Cognitive Rehabilitation in Moyamoya Disease Not yet recruiting NCT03543748 Not Applicable

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:

41
Brain, Testes, Endothelial, Smooth Muscle, Kidney, Thyroid, Pituitary

Publications for Moyamoya Disease 1

Articles related to Moyamoya Disease 1:

(show top 50) (show all 1234)
# Title Authors Year
1
Associations of depression, anxiety and PTSD with neurological disability and cognitive impairment in survivors of moyamoya disease. ( 29678126 )
2019
2
Revascularization experience and results in ischaemic cerebrovascular disease: Moyamoya disease and carotid occlusion. ( 29550248 )
2018
3
Association of Hyperthyroidism and Thyroid Autoantibodies with Moyamoya Disease and Its Stroke Event: A Population-based Case-control Study and Meta-analysis. ( 29353860 )
2018
4
Development of moyamoya disease after non-herpetic acute limbic encephalitis: A case report. ( 29731274 )
2018
5
Elevation of Proenkephalin 143-183 in Cerebrospinal Fluid in Moyamoya Disease. ( 29030229 )
2018
6
Moyamoya Disease Associated with Tuberculum Sellae Meningioma and Cavernous Sinus Hemangioma. ( 28958924 )
2018
7
Biphasic Development of Focal Cerebral Hyperperfusion After Revascularization Surgery for Adult Moyamoya Disease Associated With Autosomal Dominant Polycystic Kidney Disease. ( 30093201 )
2018
8
Down Syndrome with Moyamoya Disease: A Case Series. ( 30090136 )
2018
9
Moyamoya disease associated with hereditary spherocytosis. ( 30038116 )
2018
10
Management of Concomitant Moyamoya Disease, Arterial Venous Malformation, and Intracranial Aneurysm: Case Illustration, Literature Review, and Management Algorithm. ( 30107248 )
2018
11
A Case of Lennox-Gastaut Syndrome in a 6-Year-Old Child with Moyamoya Disease. ( 30271075 )
2018
12
Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice. ( 29718794 )
2018
13
Atypical presentation of moyamoya disease with pulmonary hypertension: A case report. ( 29724978 )
2018
14
An infant case of renovascular hypertension in moyamoya disease treated by angioplasty. ( 30511550 )
2018
15
Endovascular Treatment of a Patient with Moyamoya Disease and Seckel Syndrome: A Case Report. ( 30090148 )
2018
16
Surgical Revascularization for Pediatric Patients with Sickle Cell Disease and Moyamoya Disease in the Prevention of Ischemic Strokes: A Single-Center Case Series and a Systematic Review. ( 30496928 )
2018
17
Adult-Onset Hemorrhagic Quasi-Moyamoya Disease with Unilateral Steno-occlusive Lesion in a Patient with Neurofibromatosis Type 1. ( 29305273 )
2018
18
Differential Expression of Vascular Endothelial Growth Factor-A165 Isoforms Between Intracranial Atherosclerosis and Moyamoya Disease. ( 30392834 )
2018
19
Persistent Primitive Olfactory Artery as Novel Collateral Channel to the Anterior Cerebral Artery in Moyamoya Disease. ( 30409746 )
2018
20
Hemorrhagic Moyamoya Disease : A Recent Update. ( 30428637 )
2018
21
Cerebral Perfusion Territory Changes After Direct Revascularization Surgery in Moyamoya Disease: A Territory Arterial Spin Labeling Study. ( 30447461 )
2018
22
Moyamoya disease. ( 30455272 )
2018
23
Comparative study of MR mTI-ASL and DSC-PWI in evaluating cerebral hemodynamics of patients with Moyamoya disease: Erratum. ( 30461664 )
2018
24
How I do it: operative nuances of multiple burr hole surgery for moyamoya disease and syndrome. ( 30474750 )
2018
25
Pedicled temporoparietal fascial flap for combined revascularization in adult moyamoya disease. ( 30497163 )
2018
26
Reconfigured functional network dynamics in adult moyamoya disease: a resting-state fMRI study. ( 30511114 )
2018
27
Time Course of Neoangiogenesis After Indirect Bypass Surgery for Moyamoya Disease : Comparison of Short-term and Long-term Follow-up Angiography. ( 30511151 )
2018
28
Efficacy of superficial temporal artery-middle cerebral artery double bypass in patients with hemorrhagic moyamoya disease: surgical effects for operated hemispheric sides. ( 30511308 )
2018
29
Regression of White Matter Hyperintensity after Indirect Bypass Surgery in a Patient with Moyamoya Disease. ( 30518734 )
2018
30
Indirect revascularization for moyamoya disease: A pediatric neuroanesthesiology perspective. ( 30533271 )
2018
31
Bilateral Cerebrovascular Stroke as an Initial Presenting Symptom of Moyamoya Disease. ( 30538867 )
2018
32
Impact of cerebral blood flow changes due to arterial bypass surgery on cognitive function in adult patients with symptomatic ischemic moyamoya disease. ( 30554180 )
2018
33
Contralateral acute vascular occlusion following revascularization surgery for moyamoya disease. ( 30554188 )
2018
34
Default Mode Network Changes in Moyamoya Disease Before and After Bypass Surgery: Preliminary Report. ( 29374613 )
2018
35
Rare Presentation of Moyamoya Disease with Sub acute Presentation in Iran. ( 29379567 )
2018
36
Preoperatively reduced cerebrovascular contractile reactivity to hypocapnia by hyperventilation is associated with cerebral hyperperfusion syndrome after arterial bypass surgery for adult patients with cerebral misery perfusion due to ischemic moyamoya disease. ( 29383984 )
2018
37
Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease. ( 29387438 )
2018
38
Expression of Connexin43 in Cerebral Arteries of Patients with Moyamoya Disease. ( 29395647 )
2018
39
Postoperative Cerebral Infarction Risk Factors and Postoperative Management of Pediatric Patients with Moyamoya Disease. ( 29432946 )
2018
40
Analysis of the clinical characteristics of hemorrhagic moyamoya disease in the Jilin province of northeastern China: A single-center study of 212 cases. ( 29435280 )
2018
41
Significance of novel subcortical low intensity score on transient neurological events after revascularization surgery for moyamoya disease. ( 29454731 )
2018
42
Clinical analysis of combined revascularization in treating ischemic Moyamoya disease in adults. ( 29455906 )
2018
43
Comments on "RNF213 p.R4810k Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease". ( 29475584 )
2018
44
Vasospastic angina and asymptomatic moyamoya disease in a 14-year-old girl. ( 29480584 )
2018
45
Correction to: Surgical Management of Moyamoya Disease. ( 29483367 )
2018
46
High rebleeding risk associated with choroidal collateral vessels in hemorrhagic moyamoya disease: analysis of a nonsurgical cohort in the Japan Adult Moyamoya Trial. ( 29498573 )
2018
47
Letter to the Editor. Direct versus indirect bypass for adult ischemic-type moyamoya disease. ( 29521587 )
2018
48
The Optimum Operative Time of Revascularization for Patients with Moyamoya Disease Following Acute Onset. ( 29530705 )
2018
49
Cerebral Hyperperfusion Syndrome After Revascularization Surgery in Moyamoya Disease: Region-Symptom Mapping and Estimating a Critical Threshold. ( 29530706 )
2018
50
Clinical and angiographic outcomes after combined direct and indirect bypass in adult patients with moyamoya disease: A retrospective study of 76 procedures. ( 29545885 )
2018

Variations for Moyamoya Disease 1

ClinVar genetic disease variations for Moyamoya Disease 1:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTA2 NM_001613.2(ACTA2): c.201G> C (p.Leu67=) single nucleotide variant Conflicting interpretations of pathogenicity rs199773697 GRCh37 Chromosome 10, 90707072: 90707072
2 ACTA2 NM_001613.2(ACTA2): c.201G> C (p.Leu67=) single nucleotide variant Conflicting interpretations of pathogenicity rs199773697 GRCh38 Chromosome 10, 88947315: 88947315
3 ACTA2 NM_001613.2(ACTA2): c.420G> A (p.Ala140=) single nucleotide variant Conflicting interpretations of pathogenicity rs762567614 GRCh38 Chromosome 10, 88941819: 88941819
4 ACTA2 NM_001613.2(ACTA2): c.420G> A (p.Ala140=) single nucleotide variant Conflicting interpretations of pathogenicity rs762567614 GRCh37 Chromosome 10, 90701576: 90701576
5 ACTA2 NM_001613.2(ACTA2): c.*43A> G single nucleotide variant Uncertain significance rs886047452 GRCh38 Chromosome 10, 88935180: 88935180
6 ACTA2 NM_001613.2(ACTA2): c.*43A> G single nucleotide variant Uncertain significance rs886047452 GRCh37 Chromosome 10, 90694937: 90694937
7 ACTA2 NM_001613.2(ACTA2): c.417G> A (p.Gln139=) single nucleotide variant Benign/Likely benign rs111265233 GRCh38 Chromosome 10, 88941822: 88941822
8 ACTA2 NM_001613.2(ACTA2): c.417G> A (p.Gln139=) single nucleotide variant Benign/Likely benign rs111265233 GRCh37 Chromosome 10, 90701579: 90701579
9 ACTA2 NM_001613.2(ACTA2): c.13G> C (p.Glu5Gln) single nucleotide variant Uncertain significance rs886047453 GRCh38 Chromosome 10, 88948918: 88948918
10 ACTA2 NM_001613.2(ACTA2): c.13G> C (p.Glu5Gln) single nucleotide variant Uncertain significance rs886047453 GRCh37 Chromosome 10, 90708675: 90708675
11 ACTA2 NM_001613.2(ACTA2): c.-115A> G single nucleotide variant Uncertain significance rs886047455 GRCh38 Chromosome 10, 88952822: 88952822
12 ACTA2 NM_001613.2(ACTA2): c.-115A> G single nucleotide variant Uncertain significance rs886047455 GRCh37 Chromosome 10, 90712579: 90712579
13 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+409G> A single nucleotide variant Likely benign rs56220100 GRCh38 Chromosome 10, 88990530: 88990530
14 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+409G> A single nucleotide variant Likely benign rs56220100 GRCh37 Chromosome 10, 90750287: 90750287
15 ACTA2; FAS NG_009089.2: g.5252G> A single nucleotide variant Benign/Likely benign rs2274355 GRCh37 Chromosome 10, 90750539: 90750539
16 ACTA2; FAS NG_009089.2: g.5252G> A single nucleotide variant Benign/Likely benign rs2274355 GRCh38 Chromosome 10, 88990782: 88990782
17 ACTA2; FAS NG_009089.2: g.5313A> G single nucleotide variant Benign/Likely benign rs5030766 GRCh37 Chromosome 10, 90750600: 90750600
18 ACTA2; FAS NG_009089.2: g.5313A> G single nucleotide variant Benign/Likely benign rs5030766 GRCh38 Chromosome 10, 88990843: 88990843
19 ACTA2; FAS NG_009089.2: g.5337C> A single nucleotide variant Uncertain significance rs200181814 GRCh37 Chromosome 10, 90750624: 90750624
20 ACTA2; FAS NG_009089.2: g.5337C> A single nucleotide variant Uncertain significance rs200181814 GRCh38 Chromosome 10, 88990867: 88990867
21 ACTA2 NM_001613.2(ACTA2): c.*122T> C single nucleotide variant Uncertain significance rs886047451 GRCh38 Chromosome 10, 88935101: 88935101
22 ACTA2 NM_001613.2(ACTA2): c.*122T> C single nucleotide variant Uncertain significance rs886047451 GRCh37 Chromosome 10, 90694858: 90694858
23 ACTA2 NM_001613.2(ACTA2): c.808+14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774120023 GRCh38 Chromosome 10, 88939493: 88939493
24 ACTA2 NM_001613.2(ACTA2): c.808+14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774120023 GRCh37 Chromosome 10, 90699250: 90699250
25 ACTA2 NM_001613.3(ACTA2): c.390T> C (p.Asn130=) single nucleotide variant Conflicting interpretations of pathogenicity rs141933412 GRCh38 Chromosome 10, 88941849: 88941849
26 ACTA2 NM_001613.3(ACTA2): c.390T> C (p.Asn130=) single nucleotide variant Conflicting interpretations of pathogenicity rs141933412 GRCh37 Chromosome 10, 90701606: 90701606
27 ACTA2; FAS NG_009089.2: g.5052G> A single nucleotide variant Likely benign rs9658677 GRCh37 Chromosome 10, 90750339: 90750339
28 ACTA2; FAS NG_009089.2: g.5052G> A single nucleotide variant Likely benign rs9658677 GRCh38 Chromosome 10, 88990582: 88990582
29 ACTA2 NM_001613.2(ACTA2): c.*105G> T single nucleotide variant Uncertain significance rs149059995 GRCh38 Chromosome 10, 88935118: 88935118
30 ACTA2 NM_001613.2(ACTA2): c.*105G> T single nucleotide variant Uncertain significance rs149059995 GRCh37 Chromosome 10, 90694875: 90694875
31 ACTA2 NM_001613.2(ACTA2): c.*28A> T single nucleotide variant Uncertain significance rs143005546 GRCh38 Chromosome 10, 88935195: 88935195
32 ACTA2 NM_001613.2(ACTA2): c.*28A> T single nucleotide variant Uncertain significance rs143005546 GRCh37 Chromosome 10, 90694952: 90694952
33 ACTA2 NM_001613.2(ACTA2): c.-56C> T single nucleotide variant Uncertain significance rs886047454 GRCh38 Chromosome 10, 88952763: 88952763
34 ACTA2 NM_001613.2(ACTA2): c.-56C> T single nucleotide variant Uncertain significance rs886047454 GRCh37 Chromosome 10, 90712520: 90712520
35 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+414_-24+415delGG deletion Likely benign rs553556054 GRCh38 Chromosome 10, 88990524: 88990525
36 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+414_-24+415delGG deletion Likely benign rs553556054 GRCh37 Chromosome 10, 90750281: 90750282
37 ACTA2; FAS NG_009089.2: g.5010G> A single nucleotide variant Uncertain significance rs886047456 GRCh38 Chromosome 10, 88990540: 88990540
38 ACTA2; FAS NG_009089.2: g.5010G> A single nucleotide variant Uncertain significance rs886047456 GRCh37 Chromosome 10, 90750297: 90750297
39 ACTA2; FAS NG_009089.2: g.5173G> A single nucleotide variant Uncertain significance rs886047457 GRCh37 Chromosome 10, 90750460: 90750460
40 ACTA2; FAS NG_009089.2: g.5173G> A single nucleotide variant Uncertain significance rs886047457 GRCh38 Chromosome 10, 88990703: 88990703
41 ACTA2 NM_001613.2(ACTA2): c.369+7A> G single nucleotide variant Uncertain significance rs760471677 GRCh38 Chromosome 10, 88943790: 88943790
42 ACTA2 NM_001613.2(ACTA2): c.369+7A> G single nucleotide variant Uncertain significance rs760471677 GRCh37 Chromosome 10, 90703547: 90703547
43 ACTA2 NM_001141945.2(ACTA2): c.*158G> A single nucleotide variant Likely benign rs367977687 GRCh38 Chromosome 10, 88935065: 88935065
44 ACTA2 NM_001141945.2(ACTA2): c.*158G> A single nucleotide variant Likely benign rs367977687 GRCh37 Chromosome 10, 90694822: 90694822

Copy number variations for Moyamoya Disease 1 from CNVD:

7
# CNVD ID Chromosom 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:

37
# Name Kegg Source Accession
1 Vascular smooth muscle contraction hsa04270

GO Terms for Moyamoya Disease 1

Sources for Moyamoya Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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