MCID: MYC026
MIFTS: 27

Myoclonus Epilepsy malady

Summaries for Myoclonus Epilepsy

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32MalaCards
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MalaCards: Myoclonus Epilepsy, also known as epilepsies, myoclonic, is related to progressive myoclonus epilepsy and progressive myoclonus epilepsy, lafora type. An important gene associated with Myoclonus Epilepsy is PRICKLE1 (prickle homolog 1 (Drosophila)), and among its related pathways is Lysosome. The drug clonazepam and the compounds cl 100 and p-nitrophenyl phosphate have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and behavior/neurological.

Aliases & Classifications for Myoclonus Epilepsy

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42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

myoclonus epilepsy 42
epilepsies, myoclonic 60


Related Diseases for Myoclonus Epilepsy

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17GeneCards, 18GeneDecks
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Diseases in the Progressive Myoclonus Epilepsy family:

myoclonus epilepsy

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

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1progressive myoclonus epilepsy31.7PWP2, PPP1R3C, CSTB, NHLRC1, EPM2A, PRICKLE1
2progressive myoclonus epilepsy, lafora type30.9EPM2A, NHLRC1
3epilepsy syndrome30.9EPM2AIP1
4lafora disease30.7CSTB, DUSP13, CDKN3, EPM2A, CLN3, ACP1
5early myoclonic encephalopathy30.0EPM2A, CSTB
6dementia30.0SERPINI1, NHLRC1, EPM2A, CLN5
7neuronal ceroid-lipofuscinoses30.0CLN5, CLN3, CLN6
8prickle1-related progressive myoclonus epilepsy with ataxia10.6
9neuronitis10.5
10merrf syndrome10.4
11visual epilepsy10.4
12myoclonic astatic epilepsy10.3
13unverricht-lundborg syndrome10.3
14epilepsy, myoclonic, familial adult, 310.3
15dentatorubral-pallidoluysian atrophy10.2
16juvenile myoclonic epilepsy10.2
17familial infantile myoclonic epilepsy10.2
18epilepsy, myoclonic, adult familial, 210.2
19epilepsy, myoclonic, adult familial, 110.2
20parkinson's disease10.2
21myopathy10.2
22neuropathy10.2
23peripheral neuropathy10.2
24mitochondrial disorders10.2
25myoclonus epilepsy partial seizure10.2
26ejm3-related juvenile myoclonic epilepsy10.0
27ejm4-related juvenile myoclonic epilepsy10.0
28niemann-pick disease10.0
29childhood absence epilepsy10.0
30status epilepticus10.0
31multiple symmetrical lipomatosis10.0
32mucolipidosis10.0
33friedreich ataxia10.0
34juvenile absence epilepsy10.0
35alzheimer's disease10.0
36multiple symmetric lipomatosis10.0
37fragile x syndrome10.0
38myotonic dystrophy type 210.0
39anxiety disorder10.0
40cerebellar ataxia10.0
41focal epilepsy10.0
42glycogen storage disease10.0
43hepatitis10.0
44idiopathic generalized epilepsy10.0
45lactic acidosis10.0
46lipoma10.0
47lipomatosis10.0
48myotonic dystrophy10.0
49spinocerebellar ataxia10.0
50myotonic dystrophy type 110.0

Graphical network of the top 20 diseases related to Myoclonus Epilepsy:



Diseases related to myoclonus epilepsy

Clinical Features for Myoclonus Epilepsy

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Drugs & Therapeutics for Myoclonus Epilepsy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Myoclonus Epilepsy

Drug clinical trials:

Search ClinicalTrials for Myoclonus Epilepsy

Search NIH Clinical Center for Myoclonus Epilepsy

Search CenterWatch for Myoclonus Epilepsy

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Myoclonus Epilepsy

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Anatomical Context for Myoclonus Epilepsy

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Animal Models for Myoclonus Epilepsy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Myoclonus Epilepsy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.8SCARB2, PRICKLE1, EPM2A, CLN6, CLN3, CLN5
2MP:00053869.5NHLRC1, CSTB, SCARB2, PRICKLE1, EPM2A, CLN6

Publications for Myoclonus Epilepsy

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Genetic Variations for Myoclonus Epilepsy

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Expression for genes affiliated with Myoclonus Epilepsy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myoclonus Epilepsy

Search GEO for disease gene expression data for Myoclonus Epilepsy.

Pathways for genes affiliated with Myoclonus Epilepsy

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29KEGG
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Pathways related to Myoclonus Epilepsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2CLN5, CLN3, SCARB2

Compounds for genes affiliated with Myoclonus Epilepsy

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Myoclonus Epilepsy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cl 1004410.3ACP1, CDKN3, DUSP13
2p-nitrophenyl phosphate4410.3ACP1, CDKN3
3tungstate4410.3ACP1, DUSP13
4phosphothreonine4410.2DUSP13, CDKN3, ACP1
5glycogen44 2411.1NHLRC1, PPP1R3C, GYS1, CDKN3, EPM2A, EIF2B5
6phosphoserine44 2411.1DUSP13, CDKN3, ACP1
7sodium stibogluconate44 1111.0ACP1, CDKN3

GO Terms for genes affiliated with Myoclonus Epilepsy

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16Gene Ontology
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Cellular components related to Myoclonus Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00578310.0NHLRC1, CLN5, CLN3, CLN6, EPM2AIP1, EPM2A

Biological processes related to Myoclonus Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:00597810.3GYS1, PPP1R3C
2lysosomal lumen acidificationGO:00704210.2CLN5, CLN3, CLN6
3protein catabolic processGO:03016310.1CLN5, CLN3, CLN6
4cell deathGO:0082199.8KCTD7, CLN6, CLN3, CLN5

Molecular functions related to Myoclonus Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:00813810.2EPM2A, CDKN3, DUSP13
2protein tyrosine phosphatase activityGO:00472510.2EPM2A, CDKN3, DUSP13
3protein serine/threonine phosphatase activityGO:00472210.1EPM2A, CDKN3, PPP1R3C
4protein bindingGO:0055159.1TRAPPC10, GYS1, PRICKLE1, PPP1R3C, SCARB2, CDKN3

Products for genes affiliated with Myoclonus Epilepsy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myoclonus Epilepsy

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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