MYMY1
MCID: MYM013
MIFTS: 59

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 71
Moyamoya Disease 57 12 74 20 43 53 58 36 29 13 54 6 44 15 39 71 32
Spontaneous Occlusion of the Circle of Willis 57 20 43
Progressive Intracranial Arterial Occlusion 12 43
Mymy 57 20
Progressive Intracranial Occlusive Arteropathy 43
Cerebrovascular Moyamoya Disease 43
Idiopathic Moyamoya Disease 58
Moyamoya Disease; Mymy 57
Moyamoya Syndrome 20
Moya-Moya Disease 43
Mymy1 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
moyamoya disease 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:13099
OMIM® 57 252350
OMIM Phenotypic Series 57 PS252350
KEGG 36 H01396
ICD9CM 34 437.5
MeSH 44 D009072
NCIt 50 C84895
SNOMED-CT 67 69116000
ICD10 32 I67.5
MESH via Orphanet 45 C536991 D009072
ICD10 via Orphanet 33 I67.5
UMLS via Orphanet 72 C0026654 C2931384
Orphanet 58 ORPHA2573
MedGen 41 C2931384
UMLS 71 C0026654 C2931384

Summaries for Moyamoya Disease 1

MedlinePlus Genetics : 43 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 microcephalic osteodysplastic primordial dwarfism, type ii and multisystemic smooth muscle dysfunction syndrome. An important gene associated with Moyamoya Disease 1 is ACTA2 (Actin Alpha 2, Smooth Muscle), and among its related pathways/superpathways are Vascular smooth muscle contraction and Cell adhesion_Plasmin signaling. The drugs Xylometazoline and Platelet Aggregation Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and smooth muscle, 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.

GARD : 20 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) (Updated 05-Mar-2021)

NINDS : 53 Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name “moyamoya” means “puff of smoke” in Japanese and describes the look of the tangle of tiny vessels formed to compensate for the blockage.  Moyamoya disease was first described in Japan and is found in individuals around the world; its incidence is higher in Asian countries than in Europe or North America. The disease primarily affects children but it can also occur in adults. In children, the first symptom of Moyamoya disease is often stroke, or recurrent transient ischemic attacks (TIA, commonly referred to as “mini-strokes”), frequently accompanied by muscular weakness or paralysis affecting one side of the body. Adults may also experience these symptoms that arise from blocked arteries, but more often experience a hemorrhagic stroke due to bleeding into the brain.  Other symptoms may include: headaches seizures disturbed consciousness involuntary movements vision problems cognitive and/or sensory impairment. Some individuals with Moyamoya disease have a close relative who is also affected; in these cases researchers think that Moyamoya disease is the result of inherited genetic abnormalities. Studies that look for the abnormal gene(s) may help reveal the biomechanisms that cause the disorder.

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

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

Related Diseases for Moyamoya Disease 1

Diseases in the Moyamoya Disease 1 family:

Moyamoya Disease 2 Moyamoya Disease 3
Moyamoya Disease 5

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

(show top 50) (show all 615)
# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type ii 32.3 RNF213 PCNT CMC4
2 multisystemic smooth muscle dysfunction syndrome 32.2 ACTA2-AS1 ACTA2
3 moyamoya disease 5 32.1 ACTA2-AS1 ACTA2
4 moyamoya disease 2 32.1 RNF213-AS1 RNF213
5 hemiplegia 31.5 RNF213 PLG GUCY1A1 ACTA2
6 vascular disease 31.4 VEGFA SERPINC1 PLG MTHFR FGF2
7 branch retinal artery occlusion 30.8 VEGFA SERPINC1 PLG MTHFR
8 pulmonary hypertension 30.8 VEGFA SERPINC1 PLG FGF2 ACTA2
9 retinal artery occlusion 30.8 VEGFA SERPINC1 PLG MTHFR ACTA2
10 eclampsia 30.7 VEGFA SERPINC1 MTHFR
11 central retinal artery occlusion 30.7 VEGFA SERPINC1 PLG MTHFR ACTA2
12 intracranial embolism 30.6 SERPINC1 PLG
13 hemifacial spasm 30.6 VEGFA MTHFR
14 essential thrombocythemia 30.5 VEGFA SERPINC1 MTHFR FGF2
15 neovascular glaucoma 30.4 VEGFA PLG FGF2
16 antithrombin iii deficiency 30.3 SERPINC1 PLG MTHFR
17 central retinal vein occlusion 30.3 VEGFA SERPINC1 MTHFR
18 retinal vein occlusion 30.3 VEGFA SERPINC1 MTHFR
19 thrombophilia due to activated protein c resistance 30.3 SERPINC1 PLG MTHFR
20 sagittal sinus thrombosis 30.3 SERPINC1 PLG
21 nonarteritic anterior ischemic optic neuropathy 30.3 VEGFA SERPINC1 MTHFR
22 retinal vascular occlusion 30.3 VEGFA SERPINC1 PLG MTHFR
23 retinal vascular disease 30.3 VEGFA PLG MTHFR FGF2
24 aortic aneurysm, familial thoracic 6 30.2 ACTA2-AS1 ACTA2
25 atrial heart septal defect 30.2 SERPINC1 PLG MTHFR
26 hellp syndrome 30.2 VEGFA SERPINC1 MTHFR
27 myocardial infarction 30.2 VEGFA SERPINC1 PLG MTHFR GUCY1A1 FGF2
28 lipoprotein quantitative trait locus 30.1 VEGFA PLG MTHFR FGF2 ACTA2
29 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 10.9
30 moyamoya disease 3 10.9
31 moyamoya disease 6 with or without achalasia 10.9
32 cerebrovascular disease 10.9
33 transient cerebral ischemia 10.8
34 aneurysm 10.8
35 aphasia 10.5
36 down syndrome 10.5
37 spinal cord infarction 10.5 SERPINC1 MTHFR
38 cerebral falx meningioma 10.5 PLG NF1
39 lateral sinus thrombosis 10.5 SERPINC1 MTHFR
40 atypical coarctation of aorta 10.5 RNF213 NF1
41 blood group, globoside system 10.5 VEGFA PLG FGF2
42 asplenia, isolated congenital 10.5
43 livedoid vasculitis 10.5 SERPINC1 PLG MTHFR
44 intracranial sinus thrombosis 10.5 SERPINC1 PLG MTHFR
45 thoracic outlet syndrome 10.5 SERPINC1 PLG
46 vitreous disease 10.5 VEGFA PLG FGF2
47 rubeosis iridis 10.5 VEGFA PLG
48 lateral myocardial infarction 10.5 SERPINC1 PLG MTHFR
49 ulcer of lower limbs 10.5 VEGFA FGF2
50 arteriovenous malformation 10.5

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



Diseases related to Moyamoya Disease 1

Symptoms & Phenotypes for Moyamoya Disease 1

Human phenotypes related to Moyamoya Disease 1:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 telangiectasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001009
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
4 abnormality of the cerebral vasculature 58 31 frequent (33%) Frequent (79-30%) HP:0100659
5 seizure 31 frequent (33%) HP:0001250
6 seizures 58 Frequent (79-30%)
7 inflammatory arteriopathy 31 HP:0005291
8 carotid artery occlusion 31 HP:0012474

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Vascular:
inflammatory arteriopathy
bilateral intracranial carotid artery occlusion
basal ganglia telangiectases

Clinical features from OMIM®:

252350 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Moyamoya Disease 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 ACTA2 CRABP1 FGF2 GUCY1A1 MTHFR NF1

Drugs & Therapeutics for Moyamoya Disease 1

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Xylometazoline Approved, Investigational Phase 3 526-36-3 5709
2 Platelet Aggregation Inhibitors Phase 3
3 Pharmaceutical Solutions Phase 3
4 Protective Agents Phase 3
5 3-n-butylphthalide Phase 3
6 Neuroprotective Agents Phase 3
7 Hematinics Phase 1, Phase 2
8 Epoetin alfa Phase 1, Phase 2 113427-24-0
9 Anesthetics Phase 1, Phase 2
10
Sevoflurane Approved, Vet_approved 28523-86-6 5206
11
Aspirin Approved, Vet_approved 50-78-2 2244
12
Mannitol Approved, Investigational 69-65-8 453 6251
13
Glycerol Approved, Investigational 56-81-5 753
14 Xenon Experimental 7440-63-3
15 Anticonvulsants
16 Antihypertensive Agents
17 Vasodilator Agents
18 Anti-Inflammatory Agents
19 Analgesics, Non-Narcotic
20 Anti-Inflammatory Agents, Non-Steroidal
21 Fibrinolytic Agents
22 Cyclooxygenase Inhibitors
23 Analgesics
24 Antirheumatic Agents
25 Antipyretics
26 Anesthetics, General
27 Anesthetics, Inhalation

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 A Multi-center, Randomized, Single-blind, Placebo-controlled Study of Dl-3-n-butylphthalide in Patients With Moyamoya Disease of High Risk for Ischemic Cerebrovascular Events After Extracranial-to-intracranial Revascularization Surgery Not yet recruiting NCT04205578 Phase 3 dl-3-n-butylphthalide (NBP);Normal Saline 0.9% Infusion Solution
3 Feasibility Study of Multiple Burrhole Therapy Combined With Intravenous Erythropoietin Pretreatment for Unstable Moyamoya Completed NCT03162588 Phase 1, Phase 2 erythropoietin
4 Efficacy and Safety of rTMS for Cognitive Rehabilitation in Moyamoya Disease Unknown status NCT03543748
5 Multimodal Neuronavigation Guiding Precision Bypass in Adult Ischemic Patients With Moyamoya Disease Unknown status NCT03516851
6 Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke Unknown status NCT02074111
7 Neurocognitive and Radiological Assessments in Adult Patients With Moyamoya Disease Undergoing Surgical Revascularization Unknown status NCT02305407
8 Relationship Between Endothelial Progenitor Cells and Revascularization Effect of Moyamoya Disease Unknown status NCT03613701
9 Direct Bypass Versus Indirect Bypass in Treatment of Adults Hemorrhagic Moyamoya Disease:a Prospective Multi-center Cohort Study Unknown status NCT02982135
10 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
11 EEG Finding in Moyamoya Disease in Children Unknown status NCT03173014
12 Comparison of Two Needle Insertion Techniques on Success Rate and Complications During Subclavian Venous Catheterization: Seldinger vs. Modified Seldinger Technique Unknown status NCT02090010
13 Characteristics and Outcomes of Childhood Moyamoya in the UK Unknown status NCT02434302
14 The Safety and Effect of Remote Ischemic Conditioning on Adult Moyamoya Disease Completed NCT04012268 Aspirin
15 Effects of Remote Ischemic Preconditioning With Postconditioning in Patients Undergoing Superficial Temporal Artery-middle Cerebral Artery (STA-MCA) Anastomosis Completed NCT03072914
16 Quantifying Collateral Perfusion in Cerebrovascular Disease-Moyamoya Disease and Stroke Patients Completed NCT01419275 Xenon contrast agent
17 The Role of Cerebral Hemodynamics in Moyamoya Disease Completed NCT00629915
18 Effect of Surgical Revascularization and Conservative Treatment on Hemorrhagic Moyamoya Disease Recruiting NCT03627975
19 The Role of m6A RNA Modification in Moyamoya Disease Recruiting NCT04696094
20 Multimodal Magnetic Resonance Imaging Predicting Outcome After Surgical Revascularization in Patients With Moyamoya Disease Recruiting NCT03785171
21 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
22 A Study on Internal Carotid Artery Blood Flow Velocity in Children With Moyamoya Disease Undergoing Surgery: a Prospective Observational Study Recruiting NCT04134221
23 Remote Ischemic Conditioning Prevents Ischemic Cerebrovascular Events In Children With Moyamoya Disease: A Randomized Controlled Trial Not yet recruiting NCT03821181
24 Safety and Efficacy of Remote Ischemic Conditioning in Pediatric Moyamoya Disease Patients Treated With Revascularization Therapy Not yet recruiting NCT03546309
25 Effects of Remote Ischemic Pre-Conditioning on Neurologic Complications in Adult Ischemic Moyamoya Disease Patients Undergoing Encephaloduroarteriosynangiosis Suspended NCT04064658

Search NIH Clinical Center for Moyamoya Disease 1

Cochrane evidence based reviews: moyamoya disease

Genetic Tests for Moyamoya Disease 1

Genetic tests related to Moyamoya Disease 1:

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

Anatomical Context for Moyamoya Disease 1

MalaCards organs/tissues related to Moyamoya Disease 1:

40
Brain, Endothelial, Smooth Muscle, Thyroid, Bone Marrow, Kidney, Bone

Publications for Moyamoya Disease 1

Articles related to Moyamoya Disease 1:

(show top 50) (show all 3439)
# Title Authors PMID Year
1
Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension. 6 61
26777256 2016
2
Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity. 6 61
22931863 2012
3
Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. 6 61
22377813 2012
4
Analysis of ACTA2 in European Moyamoya disease patients. 61 6
20970362 2011
5
Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. 6 61
21799892 2011
6
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. 6 61
21048783 2011
7
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 6 61
19409525 2009
8
A novel susceptibility locus for moyamoya disease on chromosome 8q23. 57 61
15362573 2004
9
Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. 57 61
10754001 2000
10
Linkage analysis of moyamoya disease on chromosome 6. 57 61
10757474 2000
11
Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. 57 61
9973290 1999
12
A clinical comparison of definite moyamoya disease between South Korea and Japan. 61 57
9412642 1997
13
Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis. 57 61
8724642 1996
14
Ito hypomelanosis and moyamoya disease. 57 61
8534285 1995
15
Human leukocyte antigen in patients with moyamoya disease. 61 57
7886716 1995
16
Moyamoya disease in three siblings--follow-up study with magnetic resonance angiography (MRA). 61 57
7791948 1995
17
Moyamoya disease in childhood: a familial case report. 61 57
8402703 1993
18
Worldwide distribution of moyamoya disease. 57 61
1282678 1992
19
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. 6
29300374 2018
20
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 6
24998021 2014
21
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 6
20734336 2010
22
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 6
17994018 2007
23
Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum? 6
15472996 2004
24
Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? 6
14730227 2004
25
Moyamoya syndrome in childhood sickle cell disease: a predictive factor for recurrent cerebrovascular events. 57
11964276 2002
26
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. 6
10532176 1999
27
Neurofibromatosis cerebral vasculopathy in an infant: clinical, neuroradiographic, and neuropathologic studies. 57
1409159 1992
28
Moya-moya disease associated with renal artery stenosis. 57
7247776 1981
29
Familial occurrence of intracranial arterial occlusive disease (Moyamoya) in neurofibromatosis. 57
6777096 1980
30
Primary and acquired forms of moyamoya syndrome. A review and three case reports. 57
7399866 1980
31
Familial occurrence of moya-moya disease: report of three Japanese families. 57
438828 1979
32
A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease. 54 61
16475235 2006
33
Role of basic fibroblast growth factor in the pathogenesis of moyamoya disease. 54 61
17112205 1998
34
Differences in cellular responses to mitogens in arterial smooth muscle cells derived from patients with moyamoya disease. 61 54
9626293 1998
35
Evaluation of cytokines in cerebrospinal fluid from patients with moyamoya disease. 54 61
9409441 1997
36
Angiogenic factors in moyamoya disease. 54 61
8969773 1996
37
Is "unilateral" moyamoya disease different from moyamoya disease? 54 61
8893713 1996
38
The cerebrospinal fluid in patients with moyamoya disease (spontaneous occlusion of the circle of Willis) contains high level of basic fibroblast growth factor. 54 61
8247356 1993
39
[Angiogenesis on encephalo-myo-synangiosis. The effect of basic fibroblast growth factor]. 54 61
7694557 1993
40
Possible roles of basic fibroblast growth factor in the pathogenesis of moyamoya disease: an immunohistochemical study. 54 61
2072165 1991
41
Recognition of moyamoya disease and its hemorrhagic risk using deep learning algorithms: sourced from retrospective studies. 61
33229716 2021
42
Intracranial Vascular Procedures. 61
33563374 2021
43
Meta-analysis of genotype and phenotype studies to confirm the predictive role of the RNF213 p.R4810K variant for moyamoya disease. 61
33175469 2021
44
Marchiafava-Bignami disease-like corpus callosum lesions due to moyamoya disease. 61
32895777 2021
45
Letter to the Editor Regarding "Clinical Prediction of Surgical Revascularization Outcome in Moyamoya Disease Via Transcranial Color Sonography". 61
33334679 2021
46
A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy. 61
33248856 2021
47
New insights into TNFα/PTP1B and PPARγ pathway through RNF213- a link between inflammation, obesity, insulin resistance, and Moyamoya disease. 61
33333224 2021
48
Continuous Interrupted Double Throw Suturing Method: A Novel Suturing Technique for Extracranial-Intracranial Bypass. 61
33171321 2021
49
Association of genetic variants of RNF213 with ischemic stroke risk in Koreans. 61
33609224 2021
50
The ring finger protein 213 gene (Rnf213) contributes to Rift Valley fever resistance in mice. 61
33420513 2021

Variations for Moyamoya Disease 1

ClinVar genetic disease variations for Moyamoya Disease 1:

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNF213-AS1 NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) SNV Likely pathogenic, risk factor 39701 rs397514563 17:78341825-78341825 17:80368025-80368025
2 ACTA2-AS1 NM_001613.4(ACTA2):c.773G>A (p.Arg258His) SNV Pathogenic 18277 rs121434527 10:90699299-90699299 10:88939542-88939542
3 ACTA2-AS1 NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) SNV Pathogenic 18278 rs121434528 10:90699300-90699300 10:88939543-88939543
4 ACTA2 NM_001613.4(ACTA2):c.536G>A (p.Arg179His) SNV Pathogenic 29598 rs387906592 10:90701066-90701066 10:88941309-88941309
5 RNF213-AS1 NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe) SNV Pathogenic 870408 17:78343595-78343595 17:80369795-80369795
6 ACTA2 NM_001613.4(ACTA2):c.536G>A (p.Arg179His) SNV Pathogenic 29598 rs387906592 10:90701066-90701066 10:88941309-88941309
7 GUCY1A1 NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr) SNV Pathogenic 559597 rs751701114 4:156634713-156634713 4:155713561-155713561
8 GUCY1A1 NM_001130682.3(GUCY1A1):c.332_333GA[1] (p.Glu112fs) Microsatellite Pathogenic 559598 rs781020381 4:156629401-156629402 4:155708249-155708250
9 GUCY1A1 NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter) SNV Pathogenic 559596 rs373182378 4:156634421-156634421 4:155713269-155713269
10 RNF213-AS1 NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) SNV Pathogenic 39700 rs112735431 17:78358945-78358945 17:80385145-80385145
11 RNF213-AS1 NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe) SNV Likely pathogenic 637049 rs1599150380 17:78341847-78341847 17:80368047-80368047
12 RNF213-AS1 NM_001256071.3(RNF213):c.12040C>A (p.His4014Asn) SNV Likely pathogenic 417846 rs1555675538 17:78341828-78341828 17:80368028-80368028
13 MAGEA8 GRCh37/hg19 Xq28(chrX:148882560-149686856)x2 copy number gain Likely pathogenic 694602 X:148882560-149686856
14 RNF213 R4859K SNV risk factor 31064
15 RNF213-AS1 NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del) Deletion Likely pathogenic 210001 rs797045187 17:78343584-78343586 17:80369784-80369786
16 RNF213-AS1 NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu) SNV Likely pathogenic 585198 rs1568149971 17:78346336-78346336 17:80372536-80372536
17 RNF213 NM_001256071.3(RNF213):c.2875G>T (p.Gly959Ter) SNV Likely pathogenic 627493 rs546643996 17:78291051-78291051 17:80317251-80317251
18 RNF213-AS1 NM_001256071.3(RNF213):c.12562G>A (p.Ala4188Thr) SNV Uncertain significance 585199 rs1568149984 17:78346345-78346345 17:80372545-80372545
19 RNF213-AS1 NM_001256071.3(RNF213):c.13918G>A (p.Gly4640Ser) SNV Uncertain significance 417855 rs138223459 17:78355467-78355467 17:80381667-80381667
20 RNF213-AS1 NM_001256071.3(RNF213):c.11537G>A (p.Arg3846His) SNV Uncertain significance 417843 rs1321156693 17:78337083-78337083 17:80363283-80363283
21 RNF213 NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys) SNV Uncertain significance 417840 rs147868237 17:78313281-78313281 17:80339481-80339481
22 RNF213-AS1 NM_001256071.3(RNF213):c.13195G>A (p.Ala4399Thr) SNV Uncertain significance 417853 rs148731719 17:78350110-78350110 17:80376310-80376310
23 RNF213-AS1 NM_001256071.3(RNF213):c.12152A>C (p.His4051Pro) SNV Uncertain significance 417850 rs1555675612 17:78341940-78341940 17:80368140-80368140
24 RNF213-AS1 NM_001256071.3(RNF213):c.12094T>C (p.Cys4032Arg) SNV Uncertain significance 417847 rs1555675572 17:78341882-78341882 17:80368082-80368082
25 RNF213 NM_001256071.3(RNF213):c.1587_1589del (p.Ala531del) Deletion Uncertain significance 209999 rs797045186 17:78268632-78268634 17:80294833-80294835
26 RNF213-AS1 NM_001256071.3(RNF213):c.11765G>A (p.Arg3922Gln) SNV Uncertain significance 210000 rs766292366 17:78338247-78338247 17:80364447-80364447
27 ACTA2-AS1 NM_001613.4(ACTA2):c.*122T>C SNV Uncertain significance 301503 rs886047451 10:90694858-90694858 10:88935101-88935101
28 FAS NM_000043.6(FAS):c.-10C>A SNV Uncertain significance 301521 rs200181814 10:90750624-90750624 10:88990867-88990867
29 ACTA2 NM_001141945.2(ACTA2):c.-23-3869A>G SNV Uncertain significance 301513 rs886047455 10:90712579-90712579 10:88952822-88952822
30 FAS NM_001141945.2(ACTA2):c.-24+399C>T SNV Uncertain significance 301516 rs886047456 10:90750297-90750297 10:88990540-88990540
31 RNF213-AS1 NM_001256071.3(RNF213):c.12711C>G (p.Asp4237Glu) SNV Uncertain significance 210002 rs773785078 17:78346494-78346494 17:80372694-80372694
32 RNF213-AS1 NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr) SNV Uncertain significance 210003 rs148776624 17:78357601-78357601 17:80383801-80383801
33 RNF213-AS1 NM_001256071.3(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Phe4951_Asp4952insGlyLysGlnSerValGlnGln) Insertion Uncertain significance 210004 rs797045188 17:78360617-78360618 17:80386817-80386818
34 RNF213-AS1 NM_001256071.3(RNF213):c.15487G>A (p.Val5163Ile) SNV Uncertain significance 210005 rs201733659 17:78367161-78367161 17:80393361-80393361
35 RNF213-AS1 NM_001256071.3(RNF213):c.11990G>A (p.Cys3997Tyr) SNV Uncertain significance 210006 rs797045189 17:78341778-78341778 17:80367978-80367978
36 RNF213-AS1 NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys) SNV Uncertain significance 210007 rs139265462 17:78341843-78341843 17:80368043-80368043
37 RNF213-AS1 NM_001256071.3(RNF213):c.12226A>G (p.Ile4076Val) SNV Uncertain significance 210008 rs746280089 17:78343372-78343372 17:80369572-80369572
38 ACTA2 NM_001613.4(ACTA2):c.369+7A>G SNV Uncertain significance 301510 rs760471677 10:90703547-90703547 10:88943790-88943790
39 FAS NM_001141945.2(ACTA2):c.-24+236C>T SNV Uncertain significance 301518 rs886047457 10:90750460-90750460 10:88990703-88990703
40 ACTA2-AS1 NM_001613.4(ACTA2):c.*28A>T SNV Uncertain significance 301506 rs143005546 10:90694952-90694952 10:88935195-88935195
41 ACTA2-AS1 NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr) SNV Uncertain significance 930272 10:90699431-90699431 10:88939674-88939674
42 RNF213 NM_001256071.3(RNF213):c.626T>A (p.Ile209Asn) SNV Uncertain significance 417837 rs144769597 17:78261978-78261978 17:80288179-80288179
43 RNF213-AS1 NM_001256071.3(RNF213):c.12365A>T (p.Asp4122Val) SNV Uncertain significance 417852 rs1555676146 17:78343607-78343607 17:80369807-80369807
44 RNF213-AS1 NM_001256071.3(RNF213):c.11797G>A (p.Val3933Met) SNV Uncertain significance 417845 rs1181813391 17:78338279-78338279 17:80364479-80364479
45 RNF213-AS1 NM_001256071.3(RNF213):c.12124G>A (p.Glu4042Lys) SNV Uncertain significance 417849 rs1241745586 17:78341912-78341912 17:80368112-80368112
46 RNF213 NM_001256071.3(RNF213):c.5530G>A (p.Ala1844Thr) SNV Uncertain significance 417842 rs545060242 17:78313697-78313697 17:80339897-80339897
47 RNF213 NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val) SNV Uncertain significance 417839 rs201493500 17:78302164-78302164 17:80328364-80328364
48 RNF213-AS1 NM_001256071.3(RNF213):c.12098C>T (p.Pro4033Leu) SNV Uncertain significance 417848 rs778482758 17:78341886-78341886 17:80368086-80368086
49 RNF213-AS1 NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln) SNV Uncertain significance 417851 rs1555676035 17:78343331-78343331 17:80369531-80369531
50 RNF213-AS1 NM_001256071.3(RNF213):c.13822C>T (p.Pro4608Ser) SNV Uncertain significance 417854 rs1356925198 17:78355371-78355371 17:80381571-80381571

Copy number variations for Moyamoya Disease 1 from CNVD:

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

Expression for Moyamoya Disease 1

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

Pathways for Moyamoya Disease 1

Pathways related to Moyamoya Disease 1 according to KEGG:

36
# Name Kegg Source Accession
1 Vascular smooth muscle contraction hsa04270

Pathways related to Moyamoya Disease 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.82 VEGFA PLG FGF2
2 10.21 VEGFA SERPINC1 FGF2

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 cell migration involved in sprouting angiogenesis GO:0002042 9.26 VEGFA FGF2
2 positive regulation of DNA biosynthetic process GO:2000573 9.16 VEGFA FGF2
3 negative regulation of cell-cell adhesion mediated by cadherin GO:2000048 8.96 VEGFA PLG
4 positive regulation of epithelial tube formation GO:1905278 8.62 VEGFA FGF2

Sources for Moyamoya Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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