MCID: MYM013
MIFTS: 51

Moyamoya Disease 1

Categories: Rare diseases, Cardiovascular diseases, Neuronal diseases, Genetic 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 79)
# Related Disease Score Top Affiliating Genes
1 hemiplegia 30.5 ACTA2 GUCY1A1 RNF213
2 fibromuscular dysplasia 30.4 DYNC2H1 OBSCN RNF213
3 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 10.9
4 moyamoya disease 2 10.9
5 moyamoya disease 3 10.9
6 moyamoya disease 5 10.9
7 moyamoya disease 6 with achalasia 10.9
8 tolosa-hunt syndrome 10.3 NF1 RPSA
9 elastosis perforans serpiginosa 10.2
10 pseudoxanthoma elasticum 10.2
11 pulmonary hypertension 10.2
12 cortical blindness 10.2
13 cervicitis 10.2
14 dystonia 10.2
15 myoclonus 10.2
16 cerebral atherosclerosis 10.1 RNF213 RPSA
17 epilepsy 10.0
18 down syndrome 9.9
19 neurofibromatosis, type i 9.9
20 neurofibromatosis, type iv, of riccardi 9.9
21 graves' disease 9.9
22 alagille syndrome 1 9.8
23 systemic lupus erythematosus 9.8
24 sickle cell anemia 9.8
25 paroxysmal nocturnal hemoglobinuria 9.8
26 thalassemia 9.8
27 hereditary spherocytosis 9.8
28 cerebritis 9.8
29 protein c deficiency 9.8
30 hemoglobinuria 9.8
31 lupus erythematosus 9.8
32 aneurysm 9.8
33 beta-thalassemia 9.7
34 leukemia 9.7
35 intracranial aneurysm 9.7
36 essential thrombocythemia 9.7
37 protein s deficiency 9.7
38 craniopharyngioma 9.7
39 congenital human immunodeficiency virus 9.7
40 arteriovenous malformations of the brain 9.6
41 noonan syndrome 1 9.6
42 hemophilia a 9.6
43 noonan syndrome-like disorder with loose anagen hair 1 9.6
44 human immunodeficiency virus type 1 9.6
45 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 9.6
46 leukemia, acute lymphoblastic 9.6
47 deficiency anemia 9.6
48 acute lymphocytic leukemia 9.6
49 basal ganglia calcification 9.6
50 thrombosis 9.6

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 6)
# 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

Drugs & Therapeutics for Moyamoya Disease 1

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

(show all 21)
# 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, Nutraceutical Not Applicable 3416-24-8 439213
7 Anticoagulants Not Applicable
8 Antimetabolites Not Applicable
9 Fibrinolytic Agents Not Applicable
10 Glucuronyl glucosamine glycan sulfate Not Applicable
11 Hypoglycemic Agents Not Applicable
12 Hypolipidemic Agents Not Applicable
13 Lipid Regulating Agents Not Applicable
14 Anesthetics, General Not Applicable
15 Anesthetics, Inhalation Not Applicable
16 Central Nervous System Depressants Not Applicable
17 Xenon Not Applicable
18 Anticonvulsants Not Applicable
19 Antihypertensive Agents Not Applicable
20 Vasodilator Agents Not Applicable
21 Platelet Aggregation Inhibitors Not Applicable

Interventional clinical trials:

(show all 19)
# 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 Subclavian Vein catheterization_Seldinger Vs Modified Seldinger Unknown status NCT02090010 Not Applicable
4 Characteristics and Outcomes of Childhood Moyamoya in the UK Unknown status NCT02434302
5 Quantifying Collateral Perfusion in Cerebrovascular Disease-Moyamoya Disease and Stroke Patients Completed NCT01419275 Not Applicable Xenon contrast agent
6 The Role of Cerebral Hemodynamics in Moyamoya Disease Completed NCT00629915
7 Effects of Remote Ischemic Preconditioning With Postconditioning on Neurologic Outcome Completed NCT03072914 Not Applicable
8 Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE Syndrome Completed NCT01018082
9 Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke Recruiting NCT02074111
10 Direct Bypass Versus Indirect Bypass in Treatment of Adults Hemorrhagic Moyamoya Disease Recruiting NCT02982135 Not Applicable
11 Precision Bypass in Patients With Moyamoya Disease Recruiting NCT03516851 Not Applicable
12 EEG Monitoring in Children With Moyamoya Disease Recruiting NCT03173014
13 Neurocognitive and Radiological Assessments in Adult Moyamoya Undergoing Surgery Recruiting NCT02305407 Not Applicable
14 Intracranial Artery Stenosis Magnetic Resonance Imaging: Aetiology and Progression Recruiting NCT03417063
15 Prospective Observation for Serial Changes of Acute Intracranial Artery Dissection Using High Resolution MRI Recruiting NCT02914288
16 Prospective Observation for Serial Changes in Acute Intracranial Artery Dissection Using HR-MRI Recruiting NCT03213470 Not Applicable
17 Safety and Efficacy of RIC in Pediatric Moyamoya Disease Patients Treated With Revascularization Therapy Not yet recruiting NCT03546309 Not Applicable
18 Efficacy and Safety of rTMS for Cognitive Rehabilitation in Moyamoya Disease Not yet recruiting NCT03543748 Not Applicable
19 Sevoflurane and Hyperperfusion Syndrome Not yet recruiting NCT02510586 Not Applicable Sevoflurane

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, Thyroid, Bone, Pituitary

Publications for Moyamoya Disease 1

Articles related to Moyamoya Disease 1:

(show top 50) (show all 757)
# Title Authors Year
1
Revascularization experience and results in ischaemic cerebrovascular disease: Moyamoya disease and carotid occlusion. ( 29550248 )
2018
2
Association of Hyperthyroidism and Thyroid Autoantibodies with Moyamoya Disease and Its Stroke Event: A Population-based Case-control Study and Meta-analysis. ( 29353860 )
2018
3
Development of moyamoya disease after non-herpetic acute limbic encephalitis: A case report. ( 29731274 )
2018
4
Elevation of Proenkephalin 143-183 in Cerebrospinal Fluid in Moyamoya Disease. ( 29030229 )
2018
5
Moyamoya Disease Associated with Tuberculum Sellae Meningioma and Cavernous Sinus Hemangioma. ( 28958924 )
2018
6
Infarct Pattern and Collateral Status in Adult Moyamoya Disease: A Multimodal Magnetic Resonance Imaging Study. ( 27909201 )
2017
7
Ischemic Stroke in Young Adults with Moyamoya Disease: Prognostic Factors for Stroke Recurrence and Functional Outcome after Revascularization. ( 28408257 )
2017
8
Direct versus indirect bypasses for adult ischemic-type moyamoya disease: a propensity score-matched analysis. ( 28799875 )
2017
9
Complementary relation between direct and indirect bypass in progress of collateral circulation in moyamoya disease. ( 28478244 )
2017
10
Treatment of aneurysms in patients with moyamoya disease: a 10-year single-center experience. ( 28841118 )
2017
11
Moyamoya disease in a 8 year-old boy: direct bypass surgery in a province of Peru. ( 28844915 )
2017
12
Coexistence of Quasi-moyamoya Disease and POEMS Syndrome in a Patient with Intracranial Hemorrhage: A Case Report and Literature Review. ( 28664017 )
2017
13
Reply to: Moyamoya disease and systemic sclerosis (MoSys syndrome): a combination of two rare entities: comment to the authors. ( 28516875 )
2017
14
Rapid contralateral progression of focal cerebral arteriopathy distinguished from RNF213-related moyamoya disease and fibromuscular dysplasia. ( 28497183 )
2017
15
Chemokine Ligand 5 (CCL5) Derived from Endothelial Colony-Forming Cells (ECFCs) Mediates Recruitment of Smooth Muscle Progenitor Cells (SPCs) toward Critical Vascular Locations in Moyamoya Disease. ( 28072843 )
2017
16
Chronological Evaluation of Cerebral Hemodynamics by Dynamic Susceptibility Contrast Magnetic Resonance Imaging after Indirect Bypass Surgery for Moyamoya Disease. ( 28893695 )
2017
17
Moyamoya disease presenting as bilateral acute subdural hematomas without deficits. ( 28484538 )
2017
18
Transient Ischemic Attack in Pediatric Patients With Moyamoya Disease: Clinical Features, Natural History, and Predictors of Stroke. ( 28778481 )
2017
19
Awake Surgery for Brain Vascular Malformations and Moyamoya Disease. ( 28377246 )
2017
20
Further Implications of Off-Label Use of Acetazolamide in the Management of Moyamoya Disease in Japan: Response. ( 28896007 )
2017
21
Cortical Venous Redness Represents Tissue Circulation Status in Patients With Moyamoya Disease. ( 28446622 )
2017
22
Intermittent Hemiplegia in a Boy with Primary Moyamoya Disease: A Case Report from Iran. ( 28698731 )
2017
23
Evolution into moyamoya disease in an infant with internal carotid artery aneurysms. ( 29260015 )
2017
24
Long Term Outcome After Conservative Treatment and Direct Bypass Surgery of Moyamoya Disease at Late Suzuki Stage. ( 28366750 )
2017
25
Correlation between Clinical Presentations and Hemodynamic Parameters Measured by Dynamic Susceptibility Contrast Magnetic Resonance Imaging in Adult Patients with Moyamoya Disease. ( 28778721 )
2017
26
Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan. ( 28931766 )
2017
27
Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease. ( 28617845 )
2017
28
Correlation between reduction in microvascular transit time after superficial temporal artery-middle cerebral artery bypass surgery for moyamoya disease and the development of postoperative hyperperfusion syndrome. ( 28498060 )
2017
29
Acceleration-selective Arterial Spin-labeling MR Angiography Used to Visualize Distal Cerebral Arteries and Collateral Vessels in Moyamoya Disease. ( 28915102 )
2017
30
Persistent Hypotension and Cerebral Swelling Resulting From Mesenteric Traction Syndrome After Omental-to-Pial Pedicle Flap Transfer in a Young Woman With Refractory Moyamoya Disease: A Case Report. ( 28520567 )
2017
31
Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery. ( 29028653 )
2017
32
Cerebral blood flow, transit time, and apparent diffusion coefficient in moyamoya disease before and after acetazolamide. ( 27913820 )
2017
33
Patient With Severe Moyamoya Disease Who Presents With Acute Cortical Blindness. ( 28411258 )
2017
34
Proposal for a Prospective Registry for Moyamoya Disease in Japan. ( 28070115 )
2017
35
The association of the RNF213 p.R4810K polymorphism with quasi-moyamoya disease and a review of the pertinent literature. ( 28063898 )
2017
36
Impact of aberrant cerebral perfusion on resting-state functional MRI: A preliminary investigation of Moyamoya disease. ( 28441445 )
2017
37
Indocyanine green visualization of middle meningeal artery before craniotomy during surgical revascularization for moyamoya disease. ( 28050720 )
2017
38
Etiology and pathogenesis of Moyamoya Disease: An update on disease prevalence. ( 28381201 )
2017
39
Neurocognitive Performance After Cerebral Revascularization in Adult Moyamoya Disease. ( 28487332 )
2017
40
Novel insights into symptomatology of moyamoya disease in pediatric patients: survey of symptoms suggestive of orthostatic intolerance. ( 28862519 )
2017
41
Moyamoya disease with occlusion of bilateral vertebral arteries and the basilar artery fed by the collateral vessels of vertebral arteries: A rare case report. ( 28385458 )
2017
42
Moyamoya Disease as a Cause of Stroke in a Child with Tetralogy of Fallot. ( 28479818 )
2017
43
Mapping altered brain connectivity and its clinical associations in adult moyamoya disease: A resting-state functional MRI study. ( 28783763 )
2017
44
Prevalence of and risk factors for enlarged perivascular spaces in adult patients with moyamoya disease. ( 28778183 )
2017
45
Angiographic features of hemorrhagic moyamoya disease with high recurrence risk: a supplementary analysis of the Japan Adult Moyamoya Trial. ( 28409736 )
2017
46
Transient Global Cerebral Ischemia Induces RNF213, a Moyamoya Disease Susceptibility Gene, in Vulnerable Neurons of the Rat Hippocampus CA1 Subregion and Ischemic Cortex. ( 28734662 )
2017
47
Meta-analysis of the surgical outcomes of symptomatic moyamoya disease in adults. ( 28474994 )
2017
48
RNF213 p.R4810K Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease. ( 28506590 )
2017
49
Unilateral moyamoya disease with co-existing arteriovenous malformation. ( 28084278 )
2017
50
Revascularization Operation for Moyamoya Disease with Concurrent von Willebrand Disease. ( 28866059 )
2017

Variations for Moyamoya Disease 1

ClinVar genetic disease variations for Moyamoya Disease 1:

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

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

# Name GO ID Score Top Affiliating Genes
1 cytolysis GO:0019835 8.62 MMD MMD2

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
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62 PubMed
64 QIAGEN
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