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MCID: MYC033
MIFTS: 46

Myoclonus

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Myoclonus

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MalaCards integrated aliases for Myoclonus:

Name: Myoclonus 53 29 6 32

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

ICD10 32 G25.3
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Summaries for Myoclonus

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NINDS : 53 Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or "sleep starts" that some people experience while drifting off to sleep.  These simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. When more widespread, myoclonus may involve persistent, shock-like contractions in a group of muscles.  Myoclonic jerking may develop in people with multiple sclerosis, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jakob disease. Myoclonic jerks commonly occur in persons with epilepsy, a disorder in which the electrical activity in the brain becomes disordered and leads to seizures.  Myoclonus may develop in response to infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug poisoning, or other disorders.  It can occur by itself, but most often it is one of several symptoms  associated with a wide variety of nervous system disorders.

MalaCards based summary : Myoclonus is related to progressive myoclonus epilepsy, lafora type and progressive myoclonus epilepsy 6. An important gene associated with Myoclonus is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2). The drugs Fentanyl and Cisatracurium have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, cortex and eye, and related phenotypes are behavior/neurological and cellular

Wikipedia : 73 Myoclonus is a brief, involuntary, irregular (lacking rhythm) twitching (different from clonus, which is... more...

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Related Diseases for Myoclonus

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Diseases in the Myoclonus family:

Myoclonus, Familial, 1 Myoclonus, Familial, 2
Primary Myoclonus Rare Myoclonus

Diseases related to Myoclonus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 903)
# Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy, lafora type 32.7 NHLRC1 EPM2A
2 progressive myoclonus epilepsy 6 32.6 GOSR2 EPM2A
3 glycoproteinosis 32.4 NHLRC1 NEU1 CSTB
4 progressive myoclonus epilepsy 10 32.3 NHLRC1 EPM2A
5 spinal muscular atrophy with progressive myoclonic epilepsy 32.3 KCTD7 CERS1
6 myoclonic epilepsy of lafora 32.3 NHLRC1 EPM2AIP1 EPM2A CSTB
7 progressive myoclonus epilepsy 4 32.1 SCARB2 PRICKLE1 KCTD7 CSTB
8 myoclonic epilepsy of unverricht and lundborg 32.0 SCARB2 PRICKLE1 LOC109029533 GOSR2 EPM2A CSTB
9 unverricht-lundborg syndrome 31.9 SCARB2 PRICKLE1 NHLRC1 LOC109029533 KCTD7 GOSR2
10 progressive myoclonus epilepsy 1a 31.9 KCTD7 CSTB
11 progressive myoclonus epilepsy 1b 31.8 PRICKLE1 KCTD7
12 dentatorubral-pallidoluysian atrophy 31.5 SCARB2 GOSR2 EPM2A CSTB AFG3L2
13 epilepsy, myoclonic juvenile 31.4 SLC2A1 NHLRC1 EPM2A CSTB
14 myoclonus epilepsy 31.4 SCARB2 PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1 EPM2A
15 progressive myoclonus epilepsy 30.7 SCARB2 PRICKLE1 NHLRC1 LOC109029533 KCTD7 GOSR2
16 movement disease 30.6 SLC2A1 SGCE DRD2
17 early myoclonic encephalopathy 30.1 SLC2A1 SCN8A SCARB2 NHLRC1 KCTD7 GOSR2
18 dementia 29.9 NHLRC1 EPM2A DRD2 CSTB
19 dystonia 29.7 SLC2A1 SGCE KMT2B KCTD7 DRD2 CSTB
20 choreatic disease 29.7 SLC2A1 SGCE DRD2 CSTB AFG3L2
21 epilepsy, idiopathic generalized 29.5 SLC2A1 SCN8A EPM2AIP1
22 dystonia, dopa-responsive 29.3 SLC2A1 SGCE
23 benign epilepsy with centrotemporal spikes 29.2 SLC2A1 SCN8A SCARB2 PRICKLE1 EPM2A CSTB
24 epilepsy 28.9 SLC2A1 SCN8A SCARB2 PRICKLE1 NHLRC1 LOC109029533
25 dystonia 11, myoclonic 11.7
26 opsoclonus-myoclonus syndrome 11.7
27 epilepsy, progressive myoclonic, 4, with or without renal failure 11.6
28 myoclonus, familial, 1 11.5
29 prickle1-related progressive myoclonus epilepsy with ataxia 11.5
30 myoclonus, familial, 2 11.4
31 myoclonic epilepsy associated with ragged-red fibers 11.4
32 neuraminidase deficiency 11.4
33 myoclonus, intractable, neonatal 11.3
34 myoclonus, cerebellar ataxia, and deafness 11.3
35 progressive myoclonus epilepsy 7 11.3
36 familial adult myoclonic epilepsy 11.3
37 epilepsy, progressive myoclonic, 6 11.3
38 epilepsy, familial adult myoclonic, 2 11.3
39 progressive myoclonus epilepsy 8 11.3
40 myoclonic cerebellar dyssynergia 11.3
41 epilepsy, progressive myoclonic 7 11.2
42 immunodeficiency 23 11.2
43 progressive myoclonus epilepsy 3 11.2
44 progressive myoclonus epilepsy 9 11.2
45 propriospinal myoclonus 11.2
46 parasomnia, sleep bruxism type 11.2
47 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.2
48 myoclonic encephalopathy of infants 11.1
49 epilepsy, progressive myoclonic, 1b 11.1
50 epilepsy, progressive myoclonic, 8 11.1

Graphical network of the top 20 diseases related to Myoclonus:



Diseases related to Myoclonus
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Symptoms & Phenotypes for Myoclonus

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MGI Mouse Phenotypes related to Myoclonus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 AFG3L2 CERS1 CSTB DRD2 EPM2A EPM2AIP1
2 cellular MP:0005384 10.21 AFG3L2 CERS1 CSTB DRD2 EPM2A KIF5A
3 growth/size/body region MP:0005378 10.2 AFG3L2 CERS1 CSTB DRD2 EPM2A EPM2AIP1
4 homeostasis/metabolism MP:0005376 10.1 CERS1 CSTB DRD2 EPM2A EPM2AIP1 KIF5A
5 adipose tissue MP:0005375 9.98 AFG3L2 DRD2 EPM2A KCTD7 KMT2B SCARB2
6 liver/biliary system MP:0005370 9.7 AFG3L2 DRD2 EPM2A EPM2AIP1 KMT2B NEU1
7 muscle MP:0005369 9.7 AFG3L2 CSTB DRD2 EPM2A EPM2AIP1 NEU1
8 nervous system MP:0003631 9.47 AFG3L2 CERS1 CSTB DRD2 EPM2A KIF5A
Sources

Drugs & Therapeutics for Myoclonus

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Drugs for Myoclonus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 111)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Cisatracurium Approved Phase 4 96946-41-7 62887
3
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
4
Sodium citrate Approved, Investigational Phase 4 68-04-2
5
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
6
Remifentanil Approved Phase 4 132875-61-7 60815
7
Etomidate Approved Phase 4 33125-97-2 36339 667484
8
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
9
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
10
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
11
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
12
Iron Approved Phase 4 7439-89-6 23925 29936
13
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
14 Adrenergic alpha-Agonists Phase 4
15 Anesthetics Phase 4
16 Neuromuscular Nondepolarizing Agents Phase 4
17 Adrenergic Agonists Phase 4
18 Psychotropic Drugs Phase 4
19 Citrate Phase 4
20 Analgesics, Non-Narcotic Phase 4
21 Pharmaceutical Solutions Phase 4
22 Narcotics Phase 4
23 Neuromuscular Blocking Agents Phase 4
24 Analgesics Phase 4
25 Hypnotics and Sedatives Phase 4
26 Adrenergic Agents Phase 4
27 GABA Modulators Phase 4
28 Anesthetics, General Phase 4
29 Neurotransmitter Agents Phase 4
30 Cholinergic Agents Phase 4
31 Analgesics, Opioid Phase 4
32 Anesthetics, Intravenous Phase 4
33 Anti-Anxiety Agents Phase 4
34 Cholinergic Antagonists Phase 4
35 Anti-Arrhythmia Agents Phase 4
36 Sodium Channel Blockers Phase 4
37 Diuretics, Potassium Sparing Phase 4
38 Anesthetics, Local Phase 4
39 Iron Supplement Phase 4
40
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
41
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
42
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
43
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
44
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
45 Immunoglobulins, Intravenous Phase 3
46 Adrenocorticotropic Hormone Phase 3
47 Corticotropin-Releasing Hormone Phase 3
48 Melanocyte-Stimulating Hormones Phase 3
49 gamma-Globulins Phase 3
50 Endorphins Phase 3

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Effects and Mechanism of Pretreatment With Dexmedetomidine to Etomidate Induce Myoclonus During General Anesthesia Induction Period Unknown status NCT02518789 Phase 4 Low-dose Dexmedetomidine;High-dose dexmedetomidine;normal saline;Etomidate;midazolam，fentanyl，rocuronium;propofol，remifentanil，cis atracurium
2 Effect of Pre-injection of Lidocaine on Myoclonus Induced by Induction With Etomidate in Elderly Patients During General Anesthesia Unknown status NCT02141737 Phase 4 Lidocaine Hydrochloride Injection;Etomidate Fat Emulsion Injection;normal saline;Midazolam Injection;Fentanyl Citrate Injection;Rocuronium Injection
3 Optimum Frequency and Timing of Oral Iron Administration for Childhood Restless Leg Syndrome/Periodic Limb Movement Disorder Enrolling by invitation NCT04610827 Phase 4 Ferrous sulfate
4 A Pilot Study Randomized Trial of Intravenous Gammaglobulin Therapy for Patients With Neuroblastoma Associated Opsoclonus-Myoclonus-Ataxia Syndrome Treated With Chemotherapy and Prednisone Unknown status NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
5 A Multi-center, Randomized, Double-blind, Placebo-controlled, Parallel Study to Evaluate the Efficacy and Safety of Brivaracetam Used as Adjunctive Treatment for 12 Weeks in Adolescent and Adult Patients (≥16 Years) With Genetically Ascertained Unverricht-Lundborg Disease Completed NCT00357669 Phase 3 Brivaracetam 25 mg;Brivaracetam 50 mg
6 Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study Completed NCT01806805 Phase 3 zonegran;placebo
7 Multinational European Trial for Children With the Opsoclonus Myoclonus Syndrome / Dancing Eye Syndrome Active, not recruiting NCT01868269 Phase 3 Dexamethasone acetate;dexamethasone and cyclophosphamide;dexamethasone and rituximab
8 A Phase I Clinical Trial of Rituximab for Pediatric Opsoclonus-Myoclonus Syndrome Completed NCT00244361 Phase 1, Phase 2 rituximab
9 High-Dose Immunosuppressive Therapy Using Carmustine, Etoposide, Cytarabine, and Melphalan (BEAM) + Thymoglobulin Followed by Syngeneic or Autologous Hematopoietic Cell Transplantation for Patients With Autoimmune Neurologic Diseases Recruiting NCT00716066 Phase 2 Carmustine;Cytarabine;Etoposide;Melphalan;Prednisone
10 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Terminated NCT00202930 Phase 2 anti-CD20 (Rituximab)
11 Phase II Efficacy and Safety of Taro Pharmaceuticals' Pro-Drug T2000 (1,3-Dimethoxymethyl-5,5-Diphenyl-Barbituric Acid) In Patients With Myoclonus Dystonia: An Open Label Sequential Dose Escalation Study Terminated NCT00506012 Phase 2 T2000
12 Non-myeloablative Hematopoietic Stem Cell Transplantation for Stiff Person Syndrome (SPS) and Anti-GAD Antibody Variants: Progressive Encephalomyelitis With Rigidity and Myoclonus (PERM), and Adult Onset Autoimmune Anti-GAD Positive Cerebellar Ataxia Terminated NCT02282514 Phase 1, Phase 2 Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF;Rituxan
13 Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation Completed NCT00001663 Phase 1
14 Cytokines as Biomarkers and Therapeutic Targets in Paraneoplastic Opsoclonus-Myoclonus Syndrome (OMS) Completed NCT00806182
15 Electrophysiological Characteristics and Anatomical Differentiation of Epileptic and Non-epileptic Myoclonus. Completed NCT04235452
16 Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases Completed NCT00001667
17 Consequences of Post Stroke Polysomnographic Abnormalities on Functionnal Recovery and Survival After an Ischemic Stroke Completed NCT04816136
18 Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders Recruiting NCT00029965
19 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
20 Examining the Link Between Clinical and Physiological Sleep Data and Health-related Outcomes Active, not recruiting NCT03383354
21 Periodic Limb Movement Syndrome in Patients With Cerebral Small Vessel Disease: a Clinical and Neuropsychological Study. Enrolling by invitation NCT04569643
22 Periodic Leg Movement's Diagnosis in Spinal Cord Injury: Actigraphy as an Alternative for Polysomnography? Not yet recruiting NCT04618978

Search NIH Clinical Center for Myoclonus

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Genetic Tests for Myoclonus

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Genetic tests related to Myoclonus:

# Genetic test Affiliating Genes
1 Myoclonus 29
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Anatomical Context for Myoclonus

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MalaCards organs/tissues related to Myoclonus:

40
Spinal Cord, Cortex, Eye, Cerebellum, Thalamus, Tongue, Temporal Lobe
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Publications for Myoclonus

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Articles related to Myoclonus:

(show top 50) (show all 7821)
# Title Authors PMID Year
1
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 6
32219868 2020
2
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
3
Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease. 61
33368637 2021
4
A case of infantile Tay-Sachs disease with late onset spasms. 61
33483101 2021
5
A Less Frequent Etiology of Limb Shaking Syndrome: A Severe Middle Cerebral Artery Stenosis. 61
33497937 2021
6
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A. 61
33040085 2021
7
[Opsoclonus-myoclonus syndrome secondary to duloxetine poisoning]. 61
32674858 2021
8
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. 61
33798445 2021
9
Ocular flutter and myoclonus in hyperosmolar hyperglycemic state. 61
33170432 2021
10
A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype. 61
33811518 2021
11
The first national survey on practices of neurological prognostication after cardiac arrest in China, still a lot to do. 61
33098255 2021
12
Update on the management of status epilepticus. 61
33664203 2021
13
Abnormal movements in hospitalized COVID-19 patients: A case series. 61
33676146 2021
14
Sporadic Creutzfeldt-Jakob disease with tau pathology mimicking new-onset refractory non-convulsive status epilepticus: Case report and review of the literature. 61
33135248 2021
15
The relationship between plasma clozapine concentration and clinical outcome: a cross-sectional study. 61
33274435 2021
16
A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy. 61
33783721 2021
17
Prevalence and associated factors of orphan symptoms in advanced cancer patients: a multicenter observational study. 61
33725175 2021
18
Variability of Movement Disorders: The Influence of Sensation, Action, Cognition, and Emotions. 61
33332680 2021
19
Isolated generalized myoclonus immune-mediated by SARS-CoV-2: an illustrative videotaped case. 61
33718991 2021
20
FDG-PET Patterns Predict Amyloid Deposition and Clinical Profile in Corticobasal Syndrome. 61
33206389 2021
21
Mutation in ε-Sarcoglycan Induces a Myoclonus-Dystonia Syndrome-Like Movement Disorder in Mice. 61
33355901 2021
22
Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons. 61
33808167 2021
23
NK Cell-mediated Neuroblastoma Cell Lysis is Enhanced by IgG From Patients With Pediatric Opsoclonus-Myoclonus Syndrome. 61
33060390 2021
24
Cortical Subarachnoid Hemorrhage Presenting with Hemibody Dystonic Myoclonus: An Illustrative Case. 61
33706476 2021
25
Subacute cerebellar ataxia following respiratory symptoms of COVID-19: a case report. 61
33761897 2021
26
Opsoclonus-myoclonus-ataxia syndrome in children. 61
33779841 2021
27
Opsoclonus-Myoclonus-Ataxia Syndrome Related to the Novel Coronavirus (COVID-19). 61
32925477 2021
28
Opsoclonus myoclonus ataxia syndrome in severe acute respiratory syndrome coronavirus-2. 61
33788141 2021
29
Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas. 61
33341990 2021
30
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder. 61
33739604 2021
31
Neuroblastoma With Opsoclonus-Myoclonus-Ataxia Syndrome: Role of Chemotherapy in the Management: Experience From a Tertiary Care Center in a Resource-limited Setting. 61
33769388 2021
32
Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy. 61
33735526 2021
33
Autoimmune Movement Disorders: A Video-Based Case Series of 11 Patients. 61
33752203 2021
34
Diagnostic approach to paediatric movement disorders: a clinical practice guide. 61
33150968 2021
35
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations. 61
33773408 2021
36
Serum Biomarkers in Neuro-Ophthalmology: When to Test. 61
33689572 2021
37
Clinical profile and treatment outcome of epilepsy syndromes in children: A hospital-based study in Eastern Nepal. 61
33681663 2021
38
A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure. 61
33772352 2021
39
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK): a cause of progressive myoclonic epilepsy. 61
33725338 2021
40
Simultaneous bilateral dual mobility total hip arthroplasty dislocation in a patient with hepatic encephalopathy: A case report. 61
33662911 2021
41
Does a combination of ≥2 abnormal tests vs. the ERC-ESICM stepwise algorithm improve prediction of poor neurological outcome after cardiac arrest? A post-hoc analysis of the ProNeCA multicentre study. 61
33338571 2021
42
Switching Ratio from Parenteral to Oral Methadone 1:1.2 Is Safer Compared with Ratio 1:2 in Patients with Controlled Cancer Pain: A Multicenter Randomized-Controlled Trial (RATIOMTD-010810). 61
32749916 2021
43
Cefepime-Induced Encephalopathy With Seizures in a Pediatric Patient With End-Stage Renal Disease Rapidly Reversed by High-Efficiency Hemodialysis. 61
33717772 2021
44
Dravet syndrome with parkinsonian symptoms and intact dopaminergic neurons: A case report. 61
33199159 2021
45
High frequency of cerebrospinal fluid autoantibodies in COVID-19 patients with neurological symptoms. 61
33359380 2021
46
Gabapentin-Induced Myokymia: A Case Report. 61
33480615 2021
47
Creutzfeldt-Jakob Disease May Present Early With Unusual Bulbar Predominance. 61
33646993 2021
48
Non-epileptic paroxysmal events in paediatric patients: A single tertiary centre study in Egypt. 61
33607445 2021
49
Opsoclonus-myoclonus syndrome associated with herpes simplex virus infection: a case report. 61
32116082 2021
50
Different Doses of Oxycodone for Endoscopic Injection Sclerotherapy of Esophageal Varices. 61
33727522 2021
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Variations for Myoclonus

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ClinVar genetic disease variations for Myoclonus:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC2A1 NM_006516.3(SLC2A1):c.470dup (p.Thr158fs) Duplication Pathogenic 373993 rs1057518821 GRCh37: 1:43396342-43396343
GRCh38: 1:42930671-42930672
2 KMT2B NM_014727.3(KMT2B):c.3143_3149del (p.Gly1048fs) Deletion Pathogenic 813003 rs1599677213 GRCh37: 19:36214713-36214719
GRCh38: 19:35723812-35723818
3 TCF20 NM_005650.3(TCF20):c.2594C>G (p.Ser865Ter) SNV Pathogenic 590778 rs1569149539 GRCh37: 22:42608718-42608718
GRCh38: 22:42212712-42212712
4 AFG3L2 NM_006796.3(AFG3L2):c.1385C>T SNV Pathogenic 973107 rs912546325 GRCh37: 18:12351346-12351346
GRCh38: 18:12351347-12351347
5 TNXB NM_001365276.2(TNXB):c.5052C>A (p.Asp1684Glu) SNV Uncertain significance 523525 rs776883744 GRCh37: 6:32038130-32038130
GRCh38: 6:32070353-32070353
6 TNXB NM_001365276.2(TNXB):c.6349_6352del (p.Val2117fs) Deletion Uncertain significance 523526 rs754439905 GRCh37: 6:32035630-32035633
GRCh38: 6:32067853-32067856
7 TBC1D24 NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) SNV Uncertain significance 583333 rs761934676 GRCh37: 16:2547069-2547069
GRCh38: 16:2497068-2497068
8 FUS NM_004960.3(FUS):c.13+11_13+13del Deletion Uncertain significance 374092 rs1057518893 GRCh37: 16:31191558-31191560
GRCh38: 16:31180237-31180239
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Expression for Myoclonus

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Search GEO for disease gene expression data for Myoclonus.
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Pathways for Myoclonus

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GO Terms for Myoclonus

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Cellular components related to Myoclonus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic side of endoplasmic reticulum membrane GO:0098554 8.62 EPM2AIP1 EPM2A

Biological processes related to Myoclonus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of protein kinase activity GO:0045859 9.32 NHLRC1 EPM2A
2 glycogen biosynthetic process GO:0005978 9.26 NHLRC1 EPM2A
3 regulation of protein localization to plasma membrane GO:1903076 9.16 NHLRC1 EPM2A
4 regulation of protein ubiquitination GO:0031396 8.96 NHLRC1 EPM2A
5 cellular macromolecule metabolic process GO:0044260 8.62 NHLRC1 EPM2A
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Sources for Myoclonus

About this section
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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