MCID: MYC033
MIFTS: 46

Myoclonus

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Myoclonus

MalaCards integrated aliases for Myoclonus:

Name: Myoclonus 52 75 28 5 31

Classifications:



External Ids:

ICD10 31 G25.3

Summaries for Myoclonus

NINDS: 52 Myoclonus refers to a sudden, involuntary (unintended) jerking of a muscle or group of muscles. It is not in itself a disease. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. There are several forms of myoclonus. Myoclonic jerks may occur: either in sequence, in a pattern of movement or without pattern infrequently or many times per minute in response to an external event or when a person tries to make a movement. Examples of myoclonus can include hiccups, the jerks or "sleep starts" that some people experience while drifting off to sleep, or persistent, shock-like contractions in a group of muscles. Myoclonic jerks may occur by themselves or be one of several symptoms associated with nervous system disorders such as epilepsy and multiple sclerosis. Myoclonus may be seen in conjunction with infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug intoxication, or other disorders.

MalaCards based summary: Myoclonus is related to progressive myoclonus epilepsy 7 and progressive myoclonus epilepsy 10. An important gene associated with Myoclonus is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2), and among its related pathways/superpathways is Degradation pathway of sphingolipids, including diseases. The drugs Rocuronium and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, kidney and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and nervous system

Wikipedia: 75 Myoclonus is a brief, involuntary, irregular (lacking rhythm) twitching of a muscle or a group of... more...

Related Diseases for Myoclonus

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 1074)
# Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy 7 32.4 PRICKLE1 CSTB
2 progressive myoclonus epilepsy 10 32.3 NHLRC1 EPM2A
3 spinal muscular atrophy with progressive myoclonic epilepsy 32.3 KCTD7 CERS1
4 glycoproteinosis 32.2 NHLRC1 NEU1 EPM2A CSTB
5 myoclonic epilepsy of unverricht and lundborg 32.2 SCARB2 PRICKLE1 LOC109029533 EPM2A CSTB
6 unverricht-lundborg syndrome 32.1 PRICKLE1 NHLRC1 LOC109029533 KCTD7 EPM2A CSTB
7 myoclonic epilepsy of lafora 32.1 NHLRC1 EPM2AIP1 EPM2A CSTB
8 progressive myoclonus epilepsy 6 32.0 PRICKLE1 NHLRC1 KCTD7 EPM2A CSTB CERS1
9 progressive myoclonus epilepsy 4 31.7 SCARB2 PRICKLE1 NHLRC1 KCTD7 EPM2A CSTB
10 progressive myoclonus epilepsy 1a 31.6 PRICKLE1 KCTD7 CSTB
11 progressive myoclonus epilepsy 1b 31.6 PRICKLE1 KCTD7 CSTB
12 epilepsy, myoclonic juvenile 31.1 SLC2A1 SCN8A NHLRC1 EPM2A CSTB
13 myoclonus epilepsy 31.0 SLC7A6OS SCARB2 PRICKLE1 NHLRC1 LOC109029533 EPM2AIP1
14 movement disease 30.5 SLC2A1 SGCE DRD2
15 neuronal ceroid lipofuscinosis 30.2 NHLRC1 KCTD7 CSTB
16 progressive myoclonus epilepsy 30.2 SLC7A6OS SCN8A SCARB2 PRICKLE1 NHLRC1 LOC109029533
17 early myoclonic encephalopathy 30.2 SLC2A1 SCN8A PRICKLE1 NHLRC1 KCTD7 EPM2A
18 aceruloplasminemia 30.2 SLC2A1 SCN8A AFG3L2
19 dementia 30.0 NHLRC1 EPM2A DRD2 CSTB
20 dystonia 30.0 SLC2A1 SGCE KMT2B DRD2 CSTB AFG3L2
21 dystonia, dopa-responsive 29.8 SLC2A1 SGCE
22 choreatic disease 29.8 SLC2A1 SGCE DRD2 CSTB AFG3L2
23 childhood absence epilepsy 29.7 SLC2A1 SCN8A NHLRC1
24 epilepsy with generalized tonic-clonic seizures 29.5 SCN8A CSTB
25 episodic ataxia 29.2 SLC2A1 SCN8A AFG3L2
26 benign epilepsy with centrotemporal spikes 29.1 SLC2A1 SCN8A SCARB2 PRICKLE1 KCTD7 EPM2A
27 epilepsy 28.9 SLC7A6OS SLC2A1 SGCE SCN8A SCARB2 PRICKLE1
28 dystonia 11, myoclonic 11.7
29 otitis media 11.7
30 epilepsy, progressive myoclonic, 4, with or without renal failure 11.7
31 myoclonus, familial, 1 11.5
32 epilepsy, progressive myoclonic, 1b 11.5
33 progressive myoclonus epilepsy, lafora type 11.5
34 myoclonic epilepsy associated with ragged-red fibers 11.4
35 neuraminidase deficiency 11.4
36 myoclonus, familial, 2 11.4
37 familial adult myoclonic epilepsy 11.4
38 myoclonus, cerebellar ataxia, and deafness 11.4
39 myoclonus, intractable, neonatal 11.3
40 myoclonic cerebellar dyssynergia 11.3
41 epilepsy, progressive myoclonic 7 11.3
42 progressive encephalomyelitis with rigidity and myoclonus 11.3
43 progressive myoclonus epilepsy 8 11.3
44 epilepsy, familial adult myoclonic, 2 11.3
45 epilepsy, progressive myoclonic, 8 11.3
46 immunodeficiency 23 11.3
47 progressive myoclonus epilepsy 3 11.3
48 progressive myoclonus epilepsy 9 11.2
49 epilepsy, progressive myoclonic, 9 11.2
50 early-onset progressive encephalopathy with migrant continuous myoclonus 11.2

Graphical network of the top 20 diseases related to Myoclonus:



Diseases related to Myoclonus

Symptoms & Phenotypes for Myoclonus

GenomeRNAi Phenotypes related to Myoclonus according to GeneCards Suite gene sharing:

25 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 AFG3L2 CERS1 CSTB DRD2 EPM2A EPM2AIP1
2 no effect GR00402-S-2 10.17 CERS1 CSTB DRD2 EPM2A EPM2AIP1 KCTD7
3 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.89 DRD2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.89 SLC2A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.89 SGCE
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.89 SLC2A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.89 SGCE
8 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.89 DRD2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.89 DRD2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.89 SGCE
11 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.89 SGCE
12 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.89 SLC2A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.89 SLC2A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.89 SGCE
15 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.89 DRD2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.89 SLC2A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.89 SGCE
18 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.89 DRD2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.89 DRD2

MGI Mouse Phenotypes related to Myoclonus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.31 AFG3L2 CERS1 CSTB DRD2 EPM2A KMT2B
2 muscle MP:0005369 10.14 AFG3L2 CSTB DRD2 EPM2A EPM2AIP1 NEU1
3 homeostasis/metabolism MP:0005376 10.1 CERS1 CSTB DRD2 EPM2A EPM2AIP1 KCTD7
4 growth/size/body region MP:0005378 10.06 AFG3L2 CERS1 CSTB DRD2 EPM2A EPM2AIP1
5 liver/biliary system MP:0005370 9.91 AFG3L2 DRD2 EPM2A EPM2AIP1 KMT2B NEU1
6 adipose tissue MP:0005375 9.87 AFG3L2 DRD2 EPM2A KCTD7 KMT2B SCARB2
7 cellular MP:0005384 9.8 AFG3L2 CERS1 CSTB DRD2 EPM2A KMT2B
8 behavior/neurological MP:0005386 9.5 AFG3L2 CERS1 CSTB DRD2 EPM2A EPM2AIP1

Drugs & Therapeutics for Myoclonus

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

(show top 50) (show all 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
2
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
3
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
4
Cisatracurium Approved, Investigational Phase 4 96946-41-7 62887
5
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
6
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
7
Remifentanil Approved Phase 4 132875-61-7 60815
8
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
9
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
10
Etomidate Approved Phase 4 33125-97-2 667484
11
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
12
Iron Approved Phase 4 7439-89-6 29936
13
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
14 Neuromuscular Nondepolarizing Agents Phase 4
15 Neuromuscular Blocking Agents Phase 4
16 Pharmaceutical Solutions Phase 4
17 Analgesics, Opioid Phase 4
18 Analgesics Phase 4
19 Citrate Phase 4
20 Narcotics Phase 4
21 Adrenergic alpha-Agonists Phase 4
22 Adrenergic Agonists Phase 4
23 Adrenergic Agents Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Cholinergic Antagonists Phase 4
26 Cholinergic Agents Phase 4
27 Neurotransmitter Agents Phase 4
28 Anti-Arrhythmia Agents Phase 4
29 Sodium Channel Blockers Phase 4
30 Anti-Anxiety Agents Phase 4
31 Psychotropic Drugs Phase 4
32 Anesthetics, Local Phase 4
33 Anesthetics, Intravenous Phase 4
34 Anesthetics, General Phase 4
35 Anesthetics Phase 4
36 Hypnotics and Sedatives Phase 4
37 GABA Modulators Phase 4
38 Diuretics, Potassium Sparing Phase 4
39 Iron Supplement Phase 4
40
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
41
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
42
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3 3680
43
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 3003 5743
44
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
45 Calcium, Dietary Phase 3
46 Anticonvulsants Phase 3
47 calcium channel blockers Phase 3
48 Antirheumatic Agents Phase 3
49 Immunologic Factors Phase 3
50 Antineoplastic Agents, Hormonal Phase 3

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Effect of Pretreatment of Lignocaine Versus Midazolam in the Prevention of Etomidate Induced Myoclonus Completed NCT04921046 Phase 4 lignocaine;Midazolam 1 milligram Prefilled Syringe
4 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
5 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
6 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
7 A Pilot Study Randomized Trial of Intravenous Gammaglobulin Therapy for Patients With Neuroblastoma Associated Opsoclonus-Myoclonus-Ataxia Syndrome Treated With Chemotherapy and Prednisone Active, not recruiting NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
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 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
12 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
13 Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation Completed NCT00001663 Phase 1
14 Periodic Limb Movement Syndrome in Patients With Cerebral Small Vessel Disease: a Clinical and Neuropsychological Study. Unknown status NCT04569643
15 Cytokines as Biomarkers and Therapeutic Targets in Paraneoplastic Opsoclonus-Myoclonus Syndrome (OMS) Completed NCT00806182
16 Electrophysiological Characteristics and Anatomical Differentiation of Epileptic and Non-epileptic Myoclonus. Completed NCT04235452
17 Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases Completed NCT00001667
18 Consequences of Post Stroke Polysomnographic Abnormalities on Functionnal Recovery and Survival After an Ischemic Stroke Completed NCT04816136
19 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
20 Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia Recruiting NCT05317390
21 Periodic Leg Movement's Diagnosis in Spinal Cord Injury: Actigraphy as an Alternative for Polysomnography? Recruiting NCT04618978
22 Examining the Link Between Clinical and Physiological Sleep Data and Health-related Outcomes Active, not recruiting NCT03383354

Search NIH Clinical Center for Myoclonus

Genetic Tests for Myoclonus

Genetic tests related to Myoclonus:

# Genetic test Affiliating Genes
1 Myoclonus 28

Anatomical Context for Myoclonus

Organs/tissues related to Myoclonus:

MalaCards : Spinal Cord, Kidney, Brain, Liver, Eye, Globus Pallidus, Cortex

Publications for Myoclonus

Articles related to Myoclonus:

(show top 50) (show all 8351)
# Title Authors PMID Year
1
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 5
32219868 2020
2
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
3
Creutzfeldt-Jakob disease after COVID-19: infection-induced prion protein misfolding? A case report. 62
35786166 2022
4
A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom. 62
34965177 2022
5
Childhood Neurologic Conditions: Movement Disorders. 62
36459665 2022
6
Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review. 62
36417830 2022
7
Is the pathology of posterior cortical atrophy clinically predictable? 62
35659868 2022
8
Abdominal myoclonus in a patient implanted with spinal cord stimulator. 62
35969286 2022
9
Central nervous system adverse events of ceftazidime/avibactam: A retrospective study using Food and Drug Administration Adverse Event Reporting System. 62
36369970 2022
10
A Case of Multidrug-Resistant Lance-Adams Syndrome Successfully Treated With Phenobarbital. 62
36367330 2022
11
Comparison of some cytokines, acute phase proteins and citrulline levels in healthy and canine distemper infected dogs. 62
36418074 2022
12
Quantitative artifact reduction and pharmacologic paralysis improve detection of EEG epileptiform activity in critically ill patients. 62
36462473 2022
13
Withdrawal of life-sustaining therapy in intensive care unit patients following out-of-hospital cardiac arrest: An Australian metropolitan ICU experience. 62
35810678 2022
14
COVID-19 Continuous-EEG Case Series: A Descriptive Study. 62
33606430 2022
15
Ataxia-Myoclonus Syndrome in Patients with SARS-CoV-2 Infection. 62
34645540 2022
16
[A case of idiopathic propriospinal myoclonus accompanied by giant somatosensory evoked potential]. 62
36288962 2022
17
Paraneoplastic neuronal intermediate filament presenting as encephalopathy and myoclonus: a case report and literature review. 62
35604468 2022
18
Myoclonus status revealing COVID 19 infection. 62
36446232 2022
19
Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs. 62
36359887 2022
20
A KCNC1-related neurological disorder due to gain of Kv3.1 function. 62
36419348 2022
21
Short- and long-interval intracortical inhibition in EPM1 is related to genotype. 62
36398398 2022
22
Clinical features and outcomes of opsoclonus myoclonus ataxia syndrome. 62
36155293 2022
23
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies. 62
36200804 2022
24
Creutzfeldt-Jakob Disease: A Case Report and Literature Review for Understanding the Big Picture. 62
36398040 2022
25
Clinical Correlates of Cerebrospinal Fluid 14-3-3 Protein in Non-Prion Rapid Progressive Dementia. 62
36404548 2022
26
Clinical features and genetic analysis of SGCE myoclonus-dystonia: A case report. 62
36274329 2022
27
Diagnostic challenges of functional neurological disorders after covid-19 disease or vaccination: case series and review of the literature. 62
36413270 2022
28
Effect of the R126C mutation on the structure and function of the glucose transporter GLUT1: A molecular dynamics simulation study. 62
35671570 2022
29
Opsoclonus-myoclonus syndrome associated with neuroblastoma: Insights into antitumor immunity. 62
36094353 2022
30
Opsoclonus-myoclonus syndrome: Clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort. 62
36396095 2022
31
SORL1 gene mutation and octapeptide repeat insertion in PRNP gene in a case presenting with rapidly progressive dementia and cerebral amyloid angiopathy. 62
35789031 2022
32
Comparison of mediastinal and non-mediastinal neuroblastoma and ganglioneuroblastoma associated with opsoclonus-myoclonus syndrome: a systematic review and meta-analysis. 62
36388023 2022
33
Opsoclonus-myoclonus paraneoplastic syndrome in nasopharyngeal carcinoma. 62
36288826 2022
34
Synaptic effects of ethanol on striatal circuitry: therapeutic implications for dystonia. 62
34217152 2022
35
Myoclonus and tremor in chronic inflammatory demyelinating polyneuropathy: a multichannel electromyography analysis. 62
35750953 2022
36
Reading Epilepsy and Language Processing: A Proposed Role for Semantic Salience. 62
36308758 2022
37
Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. 62
36204995 2022
38
Lafora disease: a case report. 62
36192771 2022
39
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype. 62
36214423 2022
40
Altered cerebellar-motor loop in benign adult familial myoclonic epilepsy type 1: The structural basis of cortical tremor. 62
36196770 2022
41
Prognostic factors for functional recovery in children with moderate to severe acute disseminated encephalomyelitis. 62
35878513 2022
42
Cefepime-induced neurotoxicity: systematic review. 62
35971666 2022
43
Laryngeal, Pharyngeal and Respiratory Involvement in Palatal Tremor. 62
35616181 2022
44
Neurological pupil index and its association with other prognostic tools after cardiac arrest: A post hoc analysis. 62
35914656 2022
45
Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders presenting with Dystonia: Current Practice illustrated by Two Cases. 62
36223877 2022
46
Subcortical generalized myoclonus as a presenting symptom of quetiapine overdose. 62
35641732 2022
47
Post-COVID-19 Myoclonus-Ataxia Syndrome Responsive to Intravenous Immunoglobulins. 62
36118515 2022
48
Posthypoxic Segmental Spinal "Flutter"-Like Myoclonus. 62
36352643 2022
49
Etomidate-induced myoclonus correlates with the dysfunction of astrocytes and glutamate transporters in the neocortex of Sprague-Dawley rats. 62
36111923 2022
50
A Case of Lance Adams Syndrome in a Patient with Attempted Hanging. 62
36213707 2022

Variations for Myoclonus

ClinVar genetic disease variations for Myoclonus:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC2A1 NM_006516.4(SLC2A1):c.470dup (p.Thr158fs) DUP Pathogenic
373993 rs1057518821 GRCh37: 1:43396342-43396343
GRCh38: 1:42930671-42930672
2 KMT2B NM_014727.3(KMT2B):c.3143_3149del (p.Gly1048fs) DEL Pathogenic
813003 rs1599677213 GRCh37: 19:36214713-36214719
GRCh38: 19:35723812-35723818
3 TCF20 NM_001378418.1(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 (p.Ala462Val) SNV Pathogenic
973107 rs912546325 GRCh37: 18:12351346-12351346
GRCh38: 18:12351347-12351347
5 FUS NM_004960.4(FUS):c.13+11_13+13del DEL Uncertain Significance
374092 rs1057518893 GRCh37: 16:31191558-31191560
GRCh38: 16:31180237-31180239
6 TNXB NM_001365276.2(TNXB):c.5052C>A (p.Asp1684Glu) SNV Uncertain Significance
523525 rs776883744 GRCh37: 6:32038130-32038130
GRCh38: 6:32070353-32070353
7 TNXB NM_001365276.2(TNXB):c.6349_6352del (p.Val2117fs) DEL Uncertain Significance
523526 rs754439905 GRCh37: 6:32035630-32035633
GRCh38: 6:32067853-32067856
8 TBC1D24 NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) SNV Uncertain Significance
583333 rs761934676 GRCh37: 16:2547069-2547069
GRCh38: 16:2497068-2497068
9 SCN2A NM_001040142.2(SCN2A):c.556T>C (p.Phe186Leu) SNV Likely Benign
1696409 GRCh37: 2:166165255-166165255
GRCh38: 2:165308745-165308745

Expression for Myoclonus

Search GEO for disease gene expression data for Myoclonus.

Pathways for Myoclonus

Pathways related to Myoclonus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.77 SCARB2 NEU1

GO Terms for Myoclonus

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 8.8 EPM2AIP1 EPM2A

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

# Name GO ID Score Top Affiliating Genes
1 glycogen biosynthetic process GO:0005978 9.02 NHLRC1 EPM2AIP1 EPM2A
2 cellular macromolecule metabolic process GO:0044260 8.96 NHLRC1 EPM2A

Sources for Myoclonus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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