MYMY1
MCID: MYM013
MIFTS: 53

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 57 29 6 72
Moyamoya Disease 57 12 75 53 25 54 59 37 29 13 55 6 44 15 72 33
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:

Disease Ontology 12 DOID:13099
KEGG 37 H01396
ICD9CM 35 437.5
MeSH 44 D009072
NCIt 50 C84895
SNOMED-CT 68 69116000 89142007
ICD10 33 I67.5
MESH via Orphanet 45 C536991 D009072
ICD10 via Orphanet 34 I67.5
UMLS via Orphanet 73 C0026654 C2931384
Orphanet 59 ORPHA2573
MedGen 42 C2931384
UMLS 72 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 fibromuscular dysplasia and obstructive hydrocephalus. 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, endothelial and testes, 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 : 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 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 : 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)

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 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 : 37
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 : 75 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 539)
# Related Disease Score Top Affiliating Genes
1 fibromuscular dysplasia 30.9 RNF213 OBSCN
2 obstructive hydrocephalus 30.5 NF1 CRLF1
3 microcephalic osteodysplastic primordial dwarfism, type ii 11.5
4 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 11.2
5 moyamoya disease 2 11.2
6 moyamoya disease 3 11.2
7 moyamoya disease 5 11.2
8 moyamoya disease 6 with or without achalasia 11.2
9 cerebrovascular disease 10.8
10 transient cerebral ischemia 10.7
11 aneurysm 10.7
12 aphasia 10.5
13 vascular disease 10.5
14 giant cell reparative granuloma 10.5 NF1 CALCR
15 headache 10.5
16 hemiplegia 10.5
17 neurilemmoma of the fifth cranial nerve 10.4 NF1 CRLF1
18 down syndrome 10.4
19 arteriovenous malformation 10.4
20 asplenia, isolated congenital 10.4
21 trigeminal nerve neoplasm 10.4 NF1 CRLF1
22 neurofibromatosis, type iv, of riccardi 10.4
23 graves' disease 10.4
24 chorea, childhood-onset, with psychomotor retardation 10.4
25 choreatic disease 10.4
26 juvenile pilocytic astrocytoma 10.4 NF1 FGF2
27 carotid stenosis 10.3
28 renovascular hypertension 10.3
29 cerebral aneurysms 10.3
30 pseudoxanthoma elasticum 10.3
31 hepatitis c virus 10.3
32 immunoglobulin alpha deficiency 10.3
33 cryoglobulinemia 10.3
34 myopathy 10.3
35 myoclonus 10.3
36 migraine with or without aura 1 10.3
37 autoimmune disease 10.3
38 ischemia 10.3
39 rare surgical neurologic disease 10.3
40 stroke, ischemic 10.3
41 carotid artery occlusion 10.3
42 vasculitis 10.3
43 ocular motor apraxia 10.2
44 intracranial aneurysm 10.2
45 mast cell activation syndrome 10.2
46 transient global amnesia 10.2 PCLO CRLF1
47 graves disease 1 10.2
48 seizure disorder 10.2
49 yemenite deaf-blind hypopigmentation syndrome 10.2
50 cerebral artery occlusion 10.2

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:

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

Symptoms via clinical synopsis from OMIM:

57
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 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Xylometazoline Approved, Investigational Phase 3 526-36-3 5709
2 Anesthetics Phase 1, Phase 2
3
Sevoflurane Approved, Vet_approved 28523-86-6 5206
4
Mannitol Approved, Investigational 69-65-8 453 6251
5
Glycerol Approved, Investigational 56-81-5 753
6
Heparin Approved, Investigational 9005-49-6 46507594 772
7
Dalteparin Approved 9005-49-6
8 Xenon Experimental 7440-63-3
9 Platelet Aggregation Inhibitors
10 Anticonvulsants
11 Vasodilator Agents
12 Central Nervous System Depressants
13 Anesthetics, General
14 Anesthetics, Inhalation
15 Hematinics
16 Epoetin alfa 113427-24-0
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors
18 Heparin, Low-Molecular-Weight
19 Antihypertensive Agents
20 calcium heparin
21 Hypoglycemic Agents

Interventional clinical trials:

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

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, Endothelial, Testes, Smooth Muscle, Thyroid, Kidney, Heart

Publications for Moyamoya Disease 1

Articles related to Moyamoya Disease 1:

(show top 50) (show all 3033)
# 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. 38 71
22931863 2012
2
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. 38 71
22377813 2012
3
Analysis of ACTA2 in European Moyamoya disease patients. 38 71
20970362 2011
4
Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. 38 71
21799892 2011
5
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. 38 71
21048783 2011
6
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 38 71
19409525 2009
7
A novel susceptibility locus for moyamoya disease on chromosome 8q23. 38 8
15362573 2004
8
Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. 38 8
10754001 2000
9
Linkage analysis of moyamoya disease on chromosome 6. 38 8
10757474 2000
10
Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. 38 8
9973290 1999
11
A clinical comparison of definite moyamoya disease between South Korea and Japan. 38 8
9412642 1997
12
Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis. 38 8
8724642 1996
13
Ito hypomelanosis and moyamoya disease. 38 8
8534285 1995
14
Human leukocyte antigen in patients with moyamoya disease. 38 8
7886716 1995
15
Moyamoya disease in three siblings--follow-up study with magnetic resonance angiography (MRA). 38 8
7791948 1995
16
Moyamoya disease in childhood: a familial case report. 38 8
8402703 1993
17
Worldwide distribution of moyamoya disease. 38 8
1282678 1992
18
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 71
20734336 2010
19
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 71
17994018 2007
20
Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum? 71
15472996 2004
21
Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? 71
14730227 2004
22
Moyamoya syndrome in childhood sickle cell disease: a predictive factor for recurrent cerebrovascular events. 8
11964276 2002
23
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. 71
10532176 1999
24
Neurofibromatosis cerebral vasculopathy in an infant: clinical, neuroradiographic, and neuropathologic studies. 8
1409159 1992
25
Moya-moya disease associated with renal artery stenosis. 8
7247776 1981
26
Familial occurrence of intracranial arterial occlusive disease (Moyamoya) in neurofibromatosis. 8
6777096 1980
27
Primary and acquired forms of moyamoya syndrome. A review and three case reports. 8
7399866 1980
28
Familial occurrence of moya-moya disease: report of three Japanese families. 8
438828 1979
29
A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease. 9 38
16475235 2006
30
Role of basic fibroblast growth factor in the pathogenesis of moyamoya disease. 9 38
17112205 1998
31
Differences in cellular responses to mitogens in arterial smooth muscle cells derived from patients with moyamoya disease. 9 38
9626293 1998
32
Evaluation of cytokines in cerebrospinal fluid from patients with moyamoya disease. 9 38
9409441 1997
33
Angiogenic factors in moyamoya disease. 9 38
8969773 1996
34
Is "unilateral" moyamoya disease different from moyamoya disease? 9 38
8893713 1996
35
The cerebrospinal fluid in patients with moyamoya disease (spontaneous occlusion of the circle of Willis) contains high level of basic fibroblast growth factor. 9 38
8247356 1993
36
[Angiogenesis on encephalo-myo-synangiosis. The effect of basic fibroblast growth factor]. 9 38
7694557 1993
37
Possible roles of basic fibroblast growth factor in the pathogenesis of moyamoya disease: an immunohistochemical study. 9 38
2072165 1991
38
Middle Meningeal-Middle Cerebral Artery Anastomosis for Moyamoya Disease. 38
31146043 2019
39
Abnormal Embryonic Development of Cerebral Arteries as a Potential Cause of Moyamoya Disease. 38
31125778 2019
40
Association of Superficial Temporal Artery Dilatation with Headache After Revascularization in Adult Moyamoya Disease. 38
31158538 2019
41
Circular RNA profiling of neutrophil transcriptome provides insights into asymptomatic Moyamoya disease. 38
31132337 2019
42
Prognostic factors for adult patients with hemorrhagic moyamoya disease in the acute stage. 38
31302379 2019
43
Phase-Contrast Magnetic Resonance Imaging Analysis of Cerebral Hyperperfusion Syndrome After Surgery in Adult Patients with Moyamoya Disease. 38
31051310 2019
44
Rare variant association testing for multicategory phenotype. 38
31087445 2019
45
Sex-Specific Differences in Clinical Characteristics and Outcomes Among Patients with Vascular Abnormality-Related Intracerebral Hemorrhage. 38
31181362 2019
46
Genetic analysis of ring finger protein 213 (RNF213) c.14576G>A polymorphism in patients with vertebral artery dissection: a comparative study with moyamoya disease. 38
31064275 2019
47
Precentral and cerebellar atrophic changes in moyamoya disease using 7-T magnetic resonance imaging. 38
31378078 2019
48
Characteristics of Moyamoya Disease Based on National Registry Data in Japan. 38
31234758 2019
49
Collateral Circulation in Moyamoya Disease. 38
31409266 2019
50
Surgery for Moyamoya Disease in Children. 38
31066331 2019

Variations for Moyamoya Disease 1

ClinVar genetic disease variations for Moyamoya Disease 1:

6 (show all 25)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GUCY1A1 NM_000856.6(GUCY1A1): c.1258C> T (p.Arg420Ter) single nucleotide variant Pathogenic rs373182378 4:156634421-156634421 4:155713269-155713269
2 GUCY1A1 NM_000856.6(GUCY1A1): c.1550G> A (p.Cys517Tyr) single nucleotide variant Pathogenic rs751701114 4:156634713-156634713 4:155713561-155713561
3 GUCY1A1 NM_000856.6(GUCY1A1): c.332_333GA[1] (p.Glu112fs) short repeat Pathogenic rs781020381 4:156629404-156629405 4:155708252-155708253
4 ACTA2 NM_001613.4(ACTA2): c.201G> C (p.Leu67=) single nucleotide variant Conflicting interpretations of pathogenicity rs199773697 10:90707072-90707072 10:88947315-88947315
5 ACTA2 NM_001613.4(ACTA2): c.420G> A (p.Ala140=) single nucleotide variant Conflicting interpretations of pathogenicity rs762567614 10:90701576-90701576 10:88941819-88941819
6 ACTA2 NM_001613.4(ACTA2): c.808+14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774120023 10:90699250-90699250 10:88939493-88939493
7 ACTA2 NM_001613.4(ACTA2): c.390T> C (p.Asn130=) single nucleotide variant Conflicting interpretations of pathogenicity rs141933412 10:90701606-90701606 10:88941849-88941849
8 ACTA2 ; FAS NM_000043.6(FAS): c.-10C> A single nucleotide variant Uncertain significance rs200181814 10:90750624-90750624 10:88990867-88990867
9 ACTA2 NM_001613.4(ACTA2): c.*122T> C single nucleotide variant Uncertain significance rs886047451 10:90694858-90694858 10:88935101-88935101
10 ACTA2 NM_001613.4(ACTA2): c.*105G> T single nucleotide variant Uncertain significance rs149059995 10:90694875-90694875 10:88935118-88935118
11 ACTA2 NM_001613.4(ACTA2): c.*28A> T single nucleotide variant Uncertain significance rs143005546 10:90694952-90694952 10:88935195-88935195
12 ACTA2 NM_001613.4(ACTA2): c.-56C> T single nucleotide variant Uncertain significance rs886047454 10:90712520-90712520 10:88952763-88952763
13 ACTA2 NM_001613.4(ACTA2): c.*43A> G single nucleotide variant Uncertain significance rs886047452 10:90694937-90694937 10:88935180-88935180
14 ACTA2 NM_001613.4(ACTA2): c.13G> C (p.Glu5Gln) single nucleotide variant Uncertain significance rs886047453 10:90708675-90708675 10:88948918-88948918
15 ACTA2 NM_001141945.2(ACTA2): c.-23-3869A> G single nucleotide variant Uncertain significance rs886047455 10:90712579-90712579 10:88952822-88952822
16 ACTA2 ; FAS NM_001141945.2(ACTA2): c.-24+399C> T single nucleotide variant Uncertain significance rs886047456 10:90750297-90750297 10:88990540-88990540
17 ACTA2 ; FAS NM_001141945.2(ACTA2): c.-24+236C> T single nucleotide variant Uncertain significance rs886047457 10:90750460-90750460 10:88990703-88990703
18 ACTA2 NM_001613.4(ACTA2): c.369+7A> G single nucleotide variant Uncertain significance rs760471677 10:90703547-90703547 10:88943790-88943790
19 ACTA2 NR_125373.1(ACTA2-AS1): n.690C> T single nucleotide variant Likely benign rs367977687 10:90694822-90694822 10:88935065-88935065
20 ACTA2 ; FAS NM_001141945.2(ACTA2): c.-24+409G> A single nucleotide variant Likely benign rs56220100 10:90750287-90750287 10:88990530-88990530
21 ACTA2 ; FAS NM_001141945.2(ACTA2): c.-24+414_-24+415del deletion Likely benign rs553556054 10:90750281-90750282 10:88990524-88990525
22 ACTA2 ; FAS NM_001141945.2(ACTA2): c.-24+357C> T single nucleotide variant Likely benign rs9658677 10:90750339-90750339 10:88990582-88990582
23 ACTA2 ; FAS NM_001141945.2(ACTA2): c.-24+157C> T single nucleotide variant Benign/Likely benign rs2274355 10:90750539-90750539 10:88990782-88990782
24 ACTA2 ; FAS NM_000043.6(FAS): c.-34A> G single nucleotide variant Benign/Likely benign rs5030766 10:90750600-90750600 10:88990843-88990843
25 ACTA2 NM_001613.4(ACTA2): c.417G> A (p.Gln139=) single nucleotide variant Benign/Likely benign rs111265233 10:90701579-90701579 10:88941822-88941822

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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