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

Summaries for Progressive Myoclonus Epilepsy, Lafora Type

Genetics Home Reference : 24 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 myoclonic epilepsy of lafora and myoclonus epilepsy, and has symptoms including absence seizures, unspecified visual loss and hallucinations, visual. 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:

# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of lafora 33.0 EPM2A NHLRC1
2 myoclonus epilepsy 29.7 EPM2A NHLRC1
3 myoclonus 29.6 EPM2A NHLRC1
4 progressive myoclonus epilepsy 29.5 EPM2A NHLRC1
5 epilepsy 29.2 EPM2A NHLRC1
6 epilepsy, progressive myoclonic, 10 11.6
7 unverricht-lundborg syndrome 9.7 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:


absence seizures, unspecified visual loss, hallucinations, visual, myoclonus

Drugs & Therapeutics for Progressive Myoclonus Epilepsy, Lafora Type

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Inulin Approved, Investigational, 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:


# 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

Anatomical Context for Progressive Myoclonus Epilepsy, Lafora Type

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

38
Brain

Publications for Progressive Myoclonus Epilepsy, Lafora Type

Articles related to Progressive Myoclonus Epilepsy, Lafora Type:

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

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:

# 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

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