EPM10
MCID: PRG141
MIFTS: 17

Progressive Myoclonus Epilepsy 10 (EPM10)

Categories: Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Progressive Myoclonus Epilepsy 10

MalaCards integrated aliases for Progressive Myoclonus Epilepsy 10:

Name: Progressive Myoclonus Epilepsy 10 12 15
Early-Onset Lafora Body Disease 12
Epm10 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111445

Summaries for Progressive Myoclonus Epilepsy 10

Disease Ontology : 12 A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has material basis in homozygous or compoud heterozygous mutation in PRDM8 on chromosome 4q21.21.

MalaCards based summary : Progressive Myoclonus Epilepsy 10, also known as early-onset lafora body disease, is related to progressive myoclonus epilepsy, lafora type and myoclonus epilepsy. An important gene associated with Progressive Myoclonus Epilepsy 10 is EPM2A (EPM2A Glucan Phosphatase, Laforin). Affiliated tissues include bone.

Related Diseases for Progressive Myoclonus Epilepsy 10

Diseases in the Myoclonus Epilepsy family:

Progressive Myoclonus Epilepsy 4 Progressive Myoclonus Epilepsy 10
Progressive Myoclonus Epilepsy 3 Progressive Myoclonus Epilepsy 7
Progressive Myoclonus Epilepsy 1b Progressive Myoclonus Epilepsy 6
Progressive Myoclonus Epilepsy 9 Progressive Myoclonus Epilepsy 8
Progressive Myoclonus Epilepsy 1a Progressive Myoclonus Epilepsy

Diseases related to Progressive Myoclonus Epilepsy 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy, lafora type 30.3 NHLRC1 EPM2A
2 myoclonus epilepsy 29.9 NHLRC1 EPM2A CSTB
3 myoclonus 29.9 NHLRC1 EPM2A CSTB
4 unverricht-lundborg syndrome 29.4 PRDM8 NHLRC1 EPM2A CSTB
5 myoclonic epilepsy of lafora 29.4 PRDM8 NHLRC1 EPM2A CSTB
6 progressive myoclonus epilepsy 28.5 PRDM8 NHLRC1 LMNB2 EPM2A CSTB
7 epilepsy, progressive myoclonic, 10 11.5
8 myoclonus and ataxia 10.2
9 ceroid storage disease 10.2
10 neuronal ceroid-lipofuscinoses 10.2
11 neuronal ceroid lipofuscinosis 10.2
12 progressive myoclonus epilepsy 6 10.1 EPM2A CSTB
13 progressive myoclonus epilepsy 1a 10.1 EPM2A CSTB
14 progressive myoclonus epilepsy 4 10.0 EPM2A CSTB
15 myoclonic epilepsy of unverricht and lundborg 9.9 EPM2A CSTB
16 glycoproteinosis 9.9 NHLRC1 CSTB
17 glycogen storage disease iv 9.7 NHLRC1 EPM2A
18 neonatal period electroclinical syndrome 9.7 NHLRC1 EPM2A CSTB
19 electroclinical syndrome 9.7 NHLRC1 EPM2A CSTB
20 early myoclonic encephalopathy 9.7 NHLRC1 EPM2A CSTB
21 epilepsy, myoclonic juvenile 9.7 NHLRC1 EPM2A CSTB
22 dementia 9.3 NHLRC1 EPM2A CSTB
23 epilepsy 8.8 PRDM8 NHLRC1 LMNB2 EPM2A CSTB

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy 10:



Diseases related to Progressive Myoclonus Epilepsy 10

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy 10

Drugs & Therapeutics for Progressive Myoclonus Epilepsy 10

Search Clinical Trials , NIH Clinical Center for Progressive Myoclonus Epilepsy 10

Genetic Tests for Progressive Myoclonus Epilepsy 10

Anatomical Context for Progressive Myoclonus Epilepsy 10

MalaCards organs/tissues related to Progressive Myoclonus Epilepsy 10:

40
Bone

Publications for Progressive Myoclonus Epilepsy 10

Articles related to Progressive Myoclonus Epilepsy 10:

# Title Authors PMID Year
1
Characterization of human bone marrow-derived closed circular DNA clones. 61
7688551 1993

Variations for Progressive Myoclonus Epilepsy 10

Expression for Progressive Myoclonus Epilepsy 10

Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy 10.

Pathways for Progressive Myoclonus Epilepsy 10

GO Terms for Progressive Myoclonus Epilepsy 10

Biological processes related to Progressive Myoclonus Epilepsy 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.5 PSMD9 NHLRC1 EPM2A
2 regulation of protein phosphorylation GO:0001932 9.43 NHLRC1 EPM2A
3 glycogen metabolic process GO:0005977 9.4 NHLRC1 EPM2A
4 regulation of protein kinase activity GO:0045859 9.37 NHLRC1 EPM2A
5 regulation of protein localization to plasma membrane GO:1903076 9.26 NHLRC1 EPM2A
6 glycogen biosynthetic process GO:0005978 9.16 NHLRC1 EPM2A
7 regulation of protein ubiquitination GO:0031396 8.96 NHLRC1 EPM2A
8 cellular macromolecule metabolic process GO:0044260 8.62 NHLRC1 EPM2A

Sources for Progressive Myoclonus Epilepsy 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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