MYMY1
MCID: MYM013
MIFTS: 52

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 58 30 6 74
Moyamoya Disease 58 12 77 54 26 55 60 38 30 13 56 6 45 15 74
Spontaneous Occlusion of the Circle of Willis 58 54 26
Progressive Intracranial Arterial Occlusion 12 26
Mymy 58 54
Progressive Intracranial Occlusive Arteropathy 26
Cerebrovascular Moyamoya Disease 26
Idiopathic Moyamoya Disease 60
Moyamoya Disease; Mymy 58
Moyamoya Syndrome 54
Moya-Moya Disease 26
Mymy1 58

Characteristics:

Orphanet epidemiological data:

60
moyamoya disease
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,X-linked recessive; Prevalence: 1-9/1000000 (France); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
moyamoya disease 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:13099
OMIM 58 252350
KEGG 38 H01396
ICD9CM 36 437.5
MeSH 45 D009072
NCIt 51 C84895
SNOMED-CT 69 69116000 89142007
ICD10 34 I67.5
MESH via Orphanet 46 C536991 D009072
ICD10 via Orphanet 35 I67.5
UMLS via Orphanet 75 C0026654 C2931384
Orphanet 60 ORPHA2573
MedGen 43 C2931384

Summaries for Moyamoya Disease 1

NINDS : 55 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.

MalaCards based summary : Moyamoya Disease 1, also known as moyamoya disease, is related to fibromuscular dysplasia and cone-rod dystrophy and hearing loss 2. 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 Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and endothelial, 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.

Genetics Home Reference : 26 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 : 54 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 : 58 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 : 77 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 285)
# Related Disease Score Top Affiliating Genes
1 fibromuscular dysplasia 30.1 OBSCN RNF213
2 cone-rod dystrophy and hearing loss 2 11.2
3 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 11.1
4 moyamoya disease 2 11.1
5 moyamoya disease 3 11.1
6 moyamoya disease 5 11.1
7 moyamoya disease 6 with or without achalasia 11.1
8 stroke, ischemic 10.4
9 ischemia 10.4
10 cerebral atherosclerosis 10.3 RNF213 RPSA
11 arteriovenous malformation 10.3
12 tolosa-hunt syndrome 10.3 NF1 RPSA
13 pseudoxanthoma elasticum 10.3
14 myoclonus 10.3
15 down syndrome 10.3
16 hemorrhage, intracerebral 10.3
17 choreatic disease 10.3
18 graves' disease 10.2
19 giant cell reparative granuloma 10.2 CALCR NF1
20 obstructive hydrocephalus 10.2 CRLF1 NF1
21 trigeminal nerve neoplasm 10.2 CRLF1 NF1
22 neurofibromatosis, type iv, of riccardi 10.2
23 neurofibromatosis, type i 10.2
24 headache 10.2
25 neurilemmoma of the fifth cranial nerve 10.2 CRLF1 NF1
26 renovascular hypertension 10.2
27 epilepsy 10.1
28 transient global amnesia 10.1 CRLF1 PCLO
29 arteriovenous malformations of the brain 10.1
30 intracranial aneurysm 10.1
31 cerebrovascular disease 10.1
32 aortic coarctation 10.1
33 juvenile pilocytic astrocytoma 10.0 FGF2 NF1
34 autoimmune disease 10.0
35 graves disease 1 10.0
36 sickle cell anemia 10.0
37 arteriovenous fistula 10.0
38 transient cerebral ischemia 10.0
39 carotid artery occlusion 10.0
40 hypoxia 10.0
41 cerebral aneurysms 10.0
42 paroxysmal nocturnal hemoglobinuria 10.0
43 hemoglobinuria 10.0
44 arteries, anomalies of 9.9
45 systemic lupus erythematosus 9.9
46 scleroderma, familial progressive 9.9
47 isolated growth hormone deficiency, type ia 9.9
48 aging 9.9
49 diabetes mellitus, ketosis-prone 9.9
50 beta-thalassemia 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

Human phenotypes related to Moyamoya Disease 1:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 telangiectasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001009
2 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
3 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
4 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
5 abnormality of the cerebral vasculature 60 33 frequent (33%) Frequent (79-30%) HP:0100659
6 inflammatory arteriopathy 33 HP:0005291
7 carotid artery occlusion 33 HP:0012474

Symptoms via clinical synopsis from OMIM:

58
Vascular:
inflammatory arteriopathy
bilateral intracranial carotid artery occlusion
basal ganglia telangiectases

Clinical features from OMIM:

252350

Drugs & Therapeutics for Moyamoya Disease 1

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

(show all 15)
# 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 Hematinics Phase 1, Phase 2,Not Applicable
4 Epoetin alfa Phase 1, Phase 2,Not Applicable 113427-24-0
5
Sevoflurane Approved, Vet_approved Not Applicable 28523-86-6 5206
6
Mannitol Approved, Investigational Not Applicable 69-65-8 6251 453
7
Glycerol Approved, Investigational Not Applicable 56-81-5 753
8 Xenon Experimental Not Applicable 7440-63-3
9 Anesthetics, Inhalation Not Applicable
10 Anesthetics, General Not Applicable
11 Platelet Aggregation Inhibitors Not Applicable
12 Central Nervous System Depressants Not Applicable
13 Vasodilator Agents Not Applicable
14 Antihypertensive Agents Not Applicable
15 Anticonvulsants Not Applicable

Interventional clinical trials:

(show all 24)
# 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 Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE Syndrome Completed NCT01018082
12 Relationship Between Endothelial Progenitor Cells and Revascularization Effect of Moyamoya Disease Recruiting NCT03613701
13 Effect of Surgical Revascularization on Hemorrhagic Moyamoya Disease Recruiting NCT03627975 Not Applicable
14 Predicative Value of Multimodal MRI in Moyamoya Disease Recruiting NCT03785171
15 Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke Recruiting NCT02074111
16 Precision Bypass in Patients With Moyamoya Disease Recruiting NCT03516851 Not Applicable
17 EEG Monitoring in Children With Moyamoya Disease Recruiting NCT03173014
18 Neurocognitive and Radiological Assessments in Adult Moyamoya Undergoing Surgery Recruiting NCT02305407 Not Applicable
19 Effect of Recombinant Human EPO on the Postoperative Neurologic Outcome in Pediatric Moyamoya Patients Recruiting NCT03882060 Not Applicable erythropoietin;Normal saline
20 Intracranial Artery Stenosis Magnetic Resonance Imaging: Aetiology and Progression Recruiting NCT03417063
21 Prospective Observation for Serial Changes in Acute Intracranial Artery Dissection Using HR-MRI Recruiting NCT03213470 Not Applicable
22 Safety and Efficacy of RIC in Pediatric Moyamoya Disease Patients Treated With Revascularization Therapy Not yet recruiting NCT03546309 Not Applicable
23 The Effect of RIC on TIA/Stroke in Children With Moyamoya Disease Not yet recruiting NCT03821181 Not Applicable
24 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 30
2 Moyamoya Disease 30

Anatomical Context for Moyamoya Disease 1

MalaCards organs/tissues related to Moyamoya Disease 1:

42
Brain, Testes, Endothelial, Pituitary, Kidney, Smooth Muscle, Thyroid

Publications for Moyamoya Disease 1

Articles related to Moyamoya Disease 1:

(show top 50) (show all 1990)
# Title Authors Year
1
ST-Elevation Myocardial Infarction (STEMI) in a Patient with Moyamoya Disease. ( 30863645 )
2019
2
Moyamoya disease presenting as thalamic infarction in a patient with neuromyelitis optica spectrum disorder. ( 30724483 )
2019
3
Sturge-Weber Syndrome Coexisting With Moyamoya Disease in the Fifth Decade: A Case Report and Literature Review. ( 30586028 )
2019
4
Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis. ( 30615506 )
2019
5
Differential Expression of Vascular Endothelial Growth Factor-A165 Isoforms Between Intracranial Atherosclerosis and Moyamoya Disease. ( 30392834 )
2019
6
Comparison of TOF-MRA and silent scan-MRA in depicting cerebral arteries in patients with Moyamoya disease. ( 30682891 )
2019
7
Genotype-Phenotype Correlation in Long-Term Cohort of Japanese Patients with Moyamoya Disease. ( 30947170 )
2019
8
A multidisciplinary approach to assess recovery of consciousness in a patient with moyamoya disease. ( 30953395 )
2019
9
Multiple Burr-Hole Surgery for the Treatment of Moyamoya Disease and Quasi-Moyamoya Disease in Children: Preliminary Surgical and Imaging Results. ( 30954732 )
2019
10
Functional Outcomes After Revascularization Procedures in Patients With Hemorrhagic Moyamoya Disease. ( 30989221 )
2019
11
Meta-analysis of the prognosis of Different treatments of symptomatic moyamoya disease. ( 30995556 )
2019
12
Intractable Medial Anastomotic Branches from the Lenticulostriate Artery Causing Recurrent Hemorrhages in Moyamoya Disease: A Case Report. ( 30995561 )
2019
13
Phase-Contrast MRI Analysis of Cerebral Hyperperfusion Syndrome After Surgery in Adult Patients with Moyamoya Disease. ( 31051310 )
2019
14
Erratum. Results of more than 20 years of follow-up in pediatric patients with moyamoya disease undergoing pial synangiosis. ( 31051466 )
2019
15
Revascularization Surgery in Patients with Ischemic-type Moyamoya Disease: Predictors for Post-operative Stroke and Long-term Outcomes. ( 31059856 )
2019
16
Trends in the Incidence and Treatment of Cerebrovascular Diseases in Korea : Part II. Cerebral Infarction, Cerebral Arterial Stenosis, and Moyamoya Disease. ( 31064040 )
2019
17
Genetic analysis of ring finger protein 213 (RNF213) c.14576G>A polymorphism in patients with vertebral artery dissection: a comparative study with moyamoya disease. ( 31064275 )
2019
18
Surgery for Moyamoya Disease in Children. ( 31066331 )
2019
19
Effects of Combined Remote Ischemic Pre-and Post-Conditioning on Neurologic Complications in Moyamoya Disease Patients Undergoing Superficial Temporal Artery-Middle Cerebral Artery Anastomosis. ( 31075871 )
2019
20
Differing Surgical Outcomes in a Multi-ethnic Cohort Suggest Racial Phenotypes in Moyamoya Disease. ( 31082553 )
2019
21
Risk factors for postoperative stroke in adults patients with moyamoya disease: a systematic review with meta-analysis. ( 31092214 )
2019
22
Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism. ( 30283986 )
2019
23
Progressive Shrinkage of Involved Arteries in Parallel with Disease Progression in Moyamoya Disease. ( 30315975 )
2019
24
Moyamoya Disease in Pregnancy: A 20-Year Single-Center Experience and Literature Review. ( 30347298 )
2019
25
Pathogenesis of aneurysms on major vessels in moyamoya disease and management outcome. ( 30389363 )
2019
26
Proximal internal carotid artery stenosis associates with diffuse wall thickening in petrous arterial segment of moyamoya disease patients: a three-dimensional magnetic resonance vessel wall imaging study. ( 30402746 )
2019
27
Epidemiology of Moyamoya Disease in China: Single-Center, Population-Based Study. ( 30404059 )
2019
28
Persistent Primitive Olfactory Artery as Novel Collateral Channel to the Anterior Cerebral Artery in Moyamoya Disease. ( 30409746 )
2019
29
Hemorrhagic Moyamoya Disease : A Recent Update. ( 30428637 )
2019
30
Cerebral Perfusion Territory Changes After Direct Revascularization Surgery in Moyamoya Disease: A Territory Arterial Spin Labeling Study. ( 30447461 )
2019
31
How I do it: operative nuances of multiple burr hole surgery for moyamoya disease and syndrome. ( 30474750 )
2019
32
Carotid Artery Stenting for Symptomatic Internal Carotid Artery Stenosis Associated with Moyamoya Disease. ( 30528525 )
2019
33
Angiographic and clinical outcomes of non-patent anastomosis after bypass surgery in adult moyamoya disease. ( 30604067 )
2019
34
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results. ( 30604336 )
2019
35
Correction to: Efficacy of superficial temporal artery-middle cerebral artery double bypass in patients with hemorrhagic moyamoya disease: surgical effects for operated hemispheric sides. ( 30610498 )
2019
36
Identifying Hypoperfusion in Moyamoya Disease With Arterial Spin Labeling and an [15O]-Water Positron Emission Tomography/Magnetic Resonance Imaging Normative Database. ( 30636572 )
2019
37
Standardized MR Perfusion Scoring System for Evaluation of Sequential Perfusion Changes and Surgical Outcome of Moyamoya Disease. ( 30655253 )
2019
38
In vivo demonstration of blood-brain barrier impairment in Moyamoya disease. ( 30675657 )
2019
39
Unraveling Specific Brain Microstructural Damage in Moyamoya Disease Using Diffusion Magnetic Resonance Imaging and Positron Emission Tomography. ( 30679013 )
2019
40
The Coexistence of Persistent Primitive Trigeminal Artery, Moyamoya Disease, And Multiple Intracranial Aneurysms: A Case Report And Literature Review. ( 30684717 )
2019
41
Predictors of neoangiogenesis after indirect revascularization in moyamoya disease: a multicenter retrospective study. ( 30684945 )
2019
42
Comparison of Acute Moyamoya Disease-Related and Idiopathic Primary Intraventricular Hemorrhage in Adult Patients. ( 30685378 )
2019
43
Microstructural damage pattern of vascular cognitive impairment: a comparison between moyamoya disease and cerebrovascular atherosclerotic disease. ( 30688272 )
2019
44
Changing Ischemic Lesion Patterns and Hemodynamics of the Posterior Cerebral Artery in Moyamoya Disease. ( 30702756 )
2019
45
Effect of choroidal collateral vessels on de novo hemorrhage in moyamoya disease: analysis of nonhemorrhagic hemispheres in the Japan Adult Moyamoya Trial. ( 30738387 )
2019
46
Arterial spin-labeling cerebral perfusion changes after revascularization surgery in pediatric moyamoya disease and syndrome. ( 30738390 )
2019
47
Hypercapnic BOLD MRI compared to H215O PET/CT for the hemodynamic evaluation of patients with Moyamoya Disease. ( 30743136 )
2019
48
Modified encephalo-duro-periosteal-synangiosis (EDPS) for the revascularization of anterior cerebral artery territory in moyamoya disease: A single-center experience. ( 30763783 )
2019
49
Predictive factors for acute thrombogenesis occurring immediately after bypass procedure for moyamoya disease. ( 30767097 )
2019
50
dl-3-n-butylphthalide for alleviation of neurological deficit after combined extracranial-intracranial revascularization for moyamoya disease: a propensity score-matched analysis. ( 30771781 )
2019

Variations for Moyamoya Disease 1

ClinVar genetic disease variations for Moyamoya Disease 1:

6 (show all 50)
# 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 NM_001141945.2(ACTA2): c.-24+157C> T single nucleotide variant Benign/Likely benign rs2274355 GRCh38 Chromosome 10, 88990782: 88990782
16 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+157C> T single nucleotide variant Benign/Likely benign rs2274355 GRCh37 Chromosome 10, 90750539: 90750539
17 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+96T> C single nucleotide variant Benign/Likely benign rs5030766 GRCh38 Chromosome 10, 88990843: 88990843
18 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+96T> C single nucleotide variant Benign/Likely benign rs5030766 GRCh37 Chromosome 10, 90750600: 90750600
19 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+72G> T single nucleotide variant Uncertain significance rs200181814 GRCh38 Chromosome 10, 88990867: 88990867
20 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+72G> T single nucleotide variant Uncertain significance rs200181814 GRCh37 Chromosome 10, 90750624: 90750624
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 NM_001141945.2(ACTA2): c.-24+357C> T single nucleotide variant Likely benign rs9658677 GRCh38 Chromosome 10, 88990582: 88990582
28 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+357C> T single nucleotide variant Likely benign rs9658677 GRCh37 Chromosome 10, 90750339: 90750339
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+415del deletion Likely benign rs553556054 GRCh38 Chromosome 10, 88990524: 88990525
36 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+414_-24+415del deletion Likely benign rs553556054 GRCh37 Chromosome 10, 90750281: 90750282
37 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+399C> T single nucleotide variant Uncertain significance rs886047456 GRCh38 Chromosome 10, 88990540: 88990540
38 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+399C> T single nucleotide variant Uncertain significance rs886047456 GRCh37 Chromosome 10, 90750297: 90750297
39 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+236C> T single nucleotide variant Uncertain significance rs886047457 GRCh38 Chromosome 10, 88990703: 88990703
40 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+236C> T single nucleotide variant Uncertain significance rs886047457 GRCh37 Chromosome 10, 90750460: 90750460
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 GRCh37 Chromosome 10, 90694822: 90694822
44 ACTA2 NM_001141945.2(ACTA2): c.*158G> A single nucleotide variant Likely benign rs367977687 GRCh38 Chromosome 10, 88935065: 88935065
45 GUCY1A1 NM_000856.5(GUCY1A1): c.1258C> T (p.Arg420Ter) single nucleotide variant Pathogenic rs373182378 GRCh38 Chromosome 4, 155713269: 155713269
46 GUCY1A1 NM_000856.5(GUCY1A1): c.1258C> T (p.Arg420Ter) single nucleotide variant Pathogenic rs373182378 GRCh37 Chromosome 4, 156634421: 156634421
47 GUCY1A1 NM_000856.5(GUCY1A1): c.1550G> A (p.Cys517Tyr) single nucleotide variant Pathogenic rs751701114 GRCh37 Chromosome 4, 156634713: 156634713
48 GUCY1A1 NM_000856.5(GUCY1A1): c.1550G> A (p.Cys517Tyr) single nucleotide variant Pathogenic rs751701114 GRCh38 Chromosome 4, 155713561: 155713561
49 GUCY1A1 NM_000856.5(GUCY1A1): c.334_335delGA (p.Glu112Argfs) deletion Pathogenic rs781020381 GRCh37 Chromosome 4, 156629404: 156629405
50 GUCY1A1 NM_000856.5(GUCY1A1): c.334_335delGA (p.Glu112Argfs) deletion Pathogenic rs781020381 GRCh38 Chromosome 4, 155708252: 155708253

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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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