MCID: PRG074
MIFTS: 21

Progressive Myoclonus Epilepsy, Lafora Type

Categories: Genetic diseases

Aliases & Classifications for Progressive Myoclonus Epilepsy, Lafora Type

MalaCards integrated aliases for Progressive Myoclonus Epilepsy, Lafora Type:

Name: Progressive Myoclonus Epilepsy, Lafora Type 23 24 25
Lafora Disease 23 24 25 69
Lafora Body Disease 23 24 25
Progressive Myoclonic Epilepsy, Lafora Type 24
Lafora Type Progressive Myoclonic Epilepsy 25
Epilepsy, Progressive Myoclonic, Lafora 25
Lafora Progressive Myoclonic Epilepsy 25
Lafora Progressive Myoclonus Epilepsy 25
Progressive Myoclonic Epilepsy Type 2 25
Myoclonic Epilepsy of Lafora 25

Classifications:



Summaries for Progressive Myoclonus Epilepsy, Lafora Type

Genetics Home Reference : 25 Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time.

MalaCards based summary : Progressive Myoclonus Epilepsy, Lafora Type, also known as lafora disease, is related to epm2a-related lafora disease and nhlrc1-related lafora disease, and has symptoms including myoclonus, hallucinations, visual and unspecified visual loss. An important gene associated with Progressive Myoclonus Epilepsy, Lafora Type is NHLRC1 (NHL Repeat Containing E3 Ubiquitin Protein Ligase 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Glucose metabolism. The drugs Inulin and Cola have been mentioned in the context of this disorder. Affiliated tissues include brain.

GeneReviews: NBK1389

Related Diseases for Progressive Myoclonus Epilepsy, Lafora Type

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

(show all 16)
id Related Disease Score Top Affiliating Genes
1 epm2a-related lafora disease 11.8
2 nhlrc1-related lafora disease 11.8
3 epilepsy, progressive myoclonic 2b 11.7
4 epilepsy, progressive myoclonic, 10 11.2
5 dystonia-11, myoclonic 10.8
6 myoclonus 10.0
7 epilepsy 10.0
8 progressive myoclonus epilepsy 10.0
9 myoclonus epilepsy 10.0
10 rasa1-related disorders 9.7 EPM2A NHLRC1
11 myoglobinuria recurrent 9.6 EPM2A NHLRC1
12 adult choroid plexus cancer 9.6 EPM2A NHLRC1
13 treacher collins syndrome 3 9.5 EPM2A NHLRC1
14 mononeuritis multiplex 9.5 EPM2A NHLRC1
15 neuronal migration disorders 9.4 EPM2A NHLRC1
16 leukoplakia of vagina 9.2 EPM2A NHLRC1

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy, Lafora Type:



Diseases related to Progressive Myoclonus Epilepsy, Lafora Type

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy, Lafora Type

UMLS symptoms related to Progressive Myoclonus Epilepsy, Lafora Type:


myoclonus, hallucinations, visual, unspecified visual loss

Drugs & Therapeutics for Progressive Myoclonus Epilepsy, Lafora Type

Drugs for Progressive Myoclonus Epilepsy, Lafora Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Inulin Approved, Nutraceutical Phase 4 9005-80-5 24763
2 Cola Nutraceutical Phase 4
3 Soy Bean Nutraceutical Phase 4
4 insulin
5 Insulin, Globin Zinc

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Dietary Fiber Mixture in Constipated Pediatric Patients Completed NCT01333787 Phase 4
2 Ketogenic Diet in Lafora Disease Completed NCT00007124

Search NIH Clinical Center for Progressive Myoclonus Epilepsy, Lafora Type

Genetic Tests for Progressive Myoclonus Epilepsy, Lafora Type

Genetic tests related to Progressive Myoclonus Epilepsy, Lafora Type:

id Genetic test Affiliating Genes
1 Progressive Myoclonus Epilepsy, Lafora Type 24 NHLRC1

Anatomical Context for Progressive Myoclonus Epilepsy, Lafora Type

MalaCards organs/tissues related to Progressive Myoclonus Epilepsy, Lafora Type:

39
Brain

Publications for Progressive Myoclonus Epilepsy, Lafora Type

Articles related to Progressive Myoclonus Epilepsy, Lafora Type:

id Title Authors Year
1
Progressive Myoclonus Epilepsy, Lafora Type ( 20301563 )
1993

Variations for Progressive Myoclonus Epilepsy, Lafora Type

ClinVar genetic disease variations for Progressive Myoclonus Epilepsy, Lafora Type:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 NHLRC1 NM_198586.2(NHLRC1): c.76T> A (p.Cys26Ser) single nucleotide variant Pathogenic rs28940575 GRCh37 Chromosome 6, 18122762: 18122762
2 NHLRC1 NM_198586.2(NHLRC1): c.205C> G (p.Pro69Ala) single nucleotide variant Pathogenic rs28940576 GRCh37 Chromosome 6, 18122633: 18122633
3 NHLRC1 NM_198586.2(NHLRC1): c.468_469delAG (p.Gly158Argfs) deletion Pathogenic rs587776542 GRCh37 Chromosome 6, 18122369: 18122370
4 NHLRC1 NM_198586.2(NHLRC1): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs121917876 GRCh37 Chromosome 6, 18122245: 18122245
5 EPM2A NM_005670.3(EPM2A): c.721C> T (p.Arg241Ter) single nucleotide variant Pathogenic rs104893950 GRCh37 Chromosome 6, 145948827: 145948827
6 EPM2A NM_005670.3(EPM2A): c.835G> A (p.Gly279Ser) single nucleotide variant Pathogenic rs137852917 GRCh37 Chromosome 6, 145948713: 145948713
7 EPM2A NM_005670.3(EPM2A): c.322C> T (p.Arg108Cys) single nucleotide variant Pathogenic rs137852915 GRCh37 Chromosome 6, 146007412: 146007412
8 EPM2A NM_005670.3(EPM2A): c.335dupA (p.Tyr112Terfs) duplication Pathogenic rs587776553 GRCh37 Chromosome 6, 146007399: 146007399
9 EPM2A NM_005670.3(EPM2A): c.950dupT (p.Gln319Profs) duplication Pathogenic rs587776554 GRCh37 Chromosome 6, 145948598: 145948598
10 EPM2A NM_005670.3(EPM2A): c.94T> G (p.Trp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs104893955 GRCh37 Chromosome 6, 146056541: 146056541
11 NHLRC1 NM_198586.2(NHLRC1): c.436G> A (p.Asp146Asn) single nucleotide variant Pathogenic rs769301934 GRCh37 Chromosome 6, 18122402: 18122402
12 NHLRC1 NM_198586.2(NHLRC1): c.664G> T (p.Glu222Ter) single nucleotide variant Pathogenic rs794726964 GRCh37 Chromosome 6, 18122174: 18122174

Expression for Progressive Myoclonus Epilepsy, Lafora Type

Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy, Lafora Type.

Pathways for Progressive Myoclonus Epilepsy, Lafora Type

GO Terms for Progressive Myoclonus Epilepsy, Lafora Type

Biological processes related to Progressive Myoclonus Epilepsy, Lafora Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 8.96 EPM2A NHLRC1
2 glycogen biosynthetic process GO:0005978 8.62 EPM2A NHLRC1

Sources for Progressive Myoclonus Epilepsy, Lafora Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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