MCID: MYC033
MIFTS: 33

Myoclonus malady

Neuronal diseases category

Summaries for Myoclonus

About this section
Sources:
43NINDS, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NINDS:43 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.

MalaCards: Myoclonus is related to progressive myoclonus epilepsy and myoclonus-dystonia. An important gene associated with Myoclonus is EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)), and among its related pathways are Lysosome and Erythropoietin Pathway. The compounds cl 100 and glycogen have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and cellular.

Wikipedia:63 Myoclonus /maɪˈɒklənəs/ or /maɪəˈkloʊnəs/ is a brief, involuntary twitching of a muscle or a... more...

Aliases & Classifications for Myoclonus

About this section
Sources:
43NINDS, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

myoclonus 43


External Ids:

ICD1025 G25.3

Related Diseases for Myoclonus

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 242)
idRelated DiseaseScoreTop Affiliating Genes
1progressive myoclonus epilepsy31.4CSTB, EPM2A, NHLRC1, PRICKLE1, PPP1R3C
2myoclonus-dystonia31.2SGCE, DRD2
3epilepsy syndrome30.7EPM2AIP1
4progressive myoclonus epilepsy, lafora type30.6NHLRC1, EPM2A
5lafora disease30.5EPM2A, CSTB, DUSP13, CDKN3, ACP1, NHLRC1
6dementia30.3EPM2A, CLN5, SERPINI1, NHLRC1
7alzheimer's disease29.9SERPINI1, CDKN3, DRD2, TRAPPC10, CSTB
8brain disease29.6SERPINI1, EIF2B5, CLN5
9familial dystonia10.4
10dancing eyes-dancing feet syndrome10.4
11encephalomyelitis10.3
12prickle1-related progressive myoclonus epilepsy with ataxia10.3
13merrf syndrome10.3
14neuroblastoma10.3
15cerebellar ataxia10.3
16unverricht-lundborg syndrome10.2
17neuronitis10.2
18subacute sclerosing panencephalitis10.2
19adult syndrome10.2
20cervicitis10.2
21neuropathy10.2
22cerebritis10.2
23encephalitis10.2
24sialidosis type i10.2
25faciomandibular myoclonus, nocturnal10.2
26myoclonus, familial cortical10.2
27visual epilepsy10.1
28pneumonia10.1
29spinocerebellar ataxia10.1
30myoclonic encephalopathy of infants10.1
31epilepsy, familial adult myoclonic, 510.1
32bruxism10.1
33mucolipidosis10.1
34myoclonic cerebellar dyssynergia10.1
35lung cancer10.1
36mitochondrial encephalomyopathy10.1
37myopathy10.1
38myoclonus cerebellar ataxia deafness10.1
39dystonia-11, myoclonic10.1
40neuronal ceroid-lipofuscinoses10.0
41status epilepticus10.0
42olivopontocerebellar atrophy10.0
43blepharospasm10.0
44dentatorubral-pallidoluysian atrophy10.0
45progressive supranuclear palsy10.0
46juvenile myoclonic epilepsy10.0
47breast cancer10.0
48focal epilepsy10.0
49peripheral neuropathy10.0
50mitochondrial disorders10.0

Graphical network of the top 20 diseases related to Myoclonus:



Diseases related to myoclonus

Clinical Features for Myoclonus

About this section

Drugs & Therapeutics for Myoclonus

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Myoclonus

Drug clinical trials:

Search ClinicalTrials for Myoclonus

Search NIH Clinical Center for Myoclonus

Search CenterWatch for Myoclonus

Genetic Tests for Myoclonus

About this section

Anatomical Context for Myoclonus

About this section

Animal Models for Myoclonus or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Myoclonus:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538610.5CSTB, SCARB2, DRD2, NEU1, PRICKLE1, EPM2A
2MP:000538410.4SGCE, ACP1, EPM2A, PRICKLE1, NEU1, DRD2
3MP:000363110.4SCARB2, PRICKLE1, EPM2A, CLN5, EIF2B5, SGCE
4MP:000536910.2DRD2, PPP1R3C, NEU1, EPM2A, SGCE, NHLRC1

Publications for Myoclonus

About this section

Genetic Variations for Myoclonus

About this section

Expression for genes affiliated with Myoclonus

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Myoclonus

Search GEO for disease gene expression data for Myoclonus.

Pathways for genes affiliated with Myoclonus

About this section
Sources:
29KEGG, 51QIAGEN
See all sources

Pathways related to Myoclonus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5CLN5, NEU1, SCARB2
2
Hide members
10.4EIF2B5, PPP1R3C, DRD2, UBC

Compounds for genes affiliated with Myoclonus

About this section
Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience
See all sources

Compounds related to Myoclonus according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1cl 1004410.7DUSP13, CDKN3, ACP1
2glycogen44 2411.7PPP1R3C, EPM2A, EIF2B5, NHLRC1, CDKN3
3phosphothreonine4410.7CDKN3, DUSP13, ACP1
4trifluoperazine44 28 1112.7ACP1, CDKN3, DRD2
5tungstate4410.7ACP1, DUSP13
6fluspirilene28 44 1112.7CDKN3, DRD2
7phosphoserine44 2411.7DUSP13, ACP1, CDKN3
8sodium stibogluconate44 1111.6CDKN3, ACP1
9n-ethylmaleimide44 1111.6ACP1, CDKN3, NEU1
10acetylcholine44 49 28 11 2414.6DRD2, ACP1, CDKN3, NEU1
11amantadine44 1111.5NEU1, DRD2
12p-nitrophenyl phosphate4410.4ACP1, CDKN3
13cytochalasin d44 5911.4ACP1, NEU1, CDKN3
14lactone4410.4CDKN3, NEU1
15levamisole44 1111.2NEU1, CDKN3

GO Terms for genes affiliated with Myoclonus

About this section
Sources:
16Gene Ontology
See all sources

Molecular functions related to Myoclonus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:00813810.5DUSP13, CDKN3, EPM2A
2protein bindingGO:00551510.4UBC, SCARB2, DRD2, PPP1R3C, PRICKLE1, TRAPPC10
3protein serine/threonine phosphatase activityGO:00472210.4EPM2A, CDKN3, PPP1R3C
4protein tyrosine phosphatase activityGO:00472510.2CDKN3, DUSP13, EPM2A

Products for genes affiliated with Myoclonus

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myoclonus

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet