EPM6
MCID: PRG145
MIFTS: 19

Progressive Myoclonus Epilepsy 6 (EPM6)

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

Aliases & Classifications for Progressive Myoclonus Epilepsy 6

MalaCards integrated aliases for Progressive Myoclonus Epilepsy 6:

Name: Progressive Myoclonus Epilepsy 6 12 15
Gosr2-Related Progressive Myoclonus Ataxia 12 52
North Sea Progressive Myoclonus Epilepsy 12 52
Progressive Myoclonus Epilepsy Type 6 12 52
Pme Type 6 12 52
Epm6 12 52
Progressive Myoclonic Epilepsy Type 6 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0111449

Summaries for Progressive Myoclonus Epilepsy 6

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280620 Definition A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course. Visit the Orphanet disease page for more resources.

MalaCards based summary : Progressive Myoclonus Epilepsy 6, also known as gosr2-related progressive myoclonus ataxia, is related to myoclonus epilepsy and progressive myoclonus epilepsy. An important gene associated with Progressive Myoclonus Epilepsy 6 is GOSR2 (Golgi SNAP Receptor Complex Member 2). Affiliated tissues include brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has material basis in homozygous or compound heterozygous mutation in GOSR2 on chromosome 17q21.32.

Related Diseases for Progressive Myoclonus Epilepsy 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 myoclonus epilepsy 30.2 EPM2A CSTB
2 progressive myoclonus epilepsy 29.7 GOSR2 EPM2A CSTB
3 myoclonus 29.7 GOSR2 EPM2A CSTB
4 early myoclonic encephalopathy 29.5 EPM2A CSTB
5 unverricht-lundborg syndrome 29.2 GOSR2 EPM2A CSTB
6 myoclonic epilepsy of unverricht and lundborg 29.2 GOSR2 EPM2A CSTB
7 epilepsy 29.0 PRICKLE2 GOSR2 EPM2A CSTB
8 epilepsy, progressive myoclonic, 6 11.6
9 ataxia and polyneuropathy, adult-onset 10.3
10 scoliosis 10.3
11 chromosome 2q35 duplication syndrome 10.1
12 status epilepticus 10.1
13 progressive myoclonus epilepsy 1a 9.6 EPM2A CSTB
14 progressive myoclonus epilepsy 10 9.6 EPM2A CSTB
15 neonatal period electroclinical syndrome 9.6 EPM2A CSTB
16 myoclonic epilepsy of lafora 9.6 EPM2A CSTB
17 visual epilepsy 9.6 GOSR2 EPM2A
18 epilepsy, myoclonic juvenile 9.5 EPM2A CSTB
19 benign epilepsy with centrotemporal spikes 9.4 EPM2A CSTB
20 progressive myoclonus epilepsy 4 9.3 PRICKLE2 EPM2A CSTB
21 electroclinical syndrome 9.3 GOSR2 EPM2A CSTB

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy 6:



Diseases related to Progressive Myoclonus Epilepsy 6

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy 6

GenomeRNAi Phenotypes related to Progressive Myoclonus Epilepsy 6 according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.01 EPM2A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.01 CSTB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.01 CSTB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.01 CSTB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.01 CSTB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.01 GMPS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.01 GMPS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10.01 EPM2A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.01 GMPS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-15 10.01 GMPS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.01 EPM2A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.01 GMPS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.01 CSTB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.01 GMPS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.01 CSTB GMPS EPM2A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-216 10.01 GMPS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-34 10.01 CSTB GMPS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.01 GMPS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-53 10.01 GMPS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.01 GMPS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.01 EPM2A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.01 GMPS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-84 10.01 GMPS
24 Increased shRNA abundance (Z-score > 2) GR00366-A-98 10.01 GMPS

MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.02 CLDN3 CSTB EPM2A GOSR2 PRICKLE2

Drugs & Therapeutics for Progressive Myoclonus Epilepsy 6

Search Clinical Trials , NIH Clinical Center for Progressive Myoclonus Epilepsy 6

Genetic Tests for Progressive Myoclonus Epilepsy 6

Anatomical Context for Progressive Myoclonus Epilepsy 6

MalaCards organs/tissues related to Progressive Myoclonus Epilepsy 6:

40
Brain

Publications for Progressive Myoclonus Epilepsy 6

Articles related to Progressive Myoclonus Epilepsy 6:

# Title Authors PMID Year
1
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients. 61
32105965 2020
2
North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia. 61
31682953 2019
3
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. 61
28264719 2017
4
Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa. 61
30838261 2017
5
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. 61
23449775 2013

Variations for Progressive Myoclonus Epilepsy 6

Expression for Progressive Myoclonus Epilepsy 6

Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy 6.

Pathways for Progressive Myoclonus Epilepsy 6

GO Terms for Progressive Myoclonus Epilepsy 6

Sources for Progressive Myoclonus Epilepsy 6

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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