MCID: EPL070
MIFTS: 49

Epilepsy, Progressive Myoclonic 2b malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Summaries for Epilepsy, Progressive Myoclonic 2b

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OMIM:47 The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset... (254780) more...

MalaCards based summary: Epilepsy, Progressive Myoclonic 2b, also known as lafora disease, is related to progressive myoclonus epilepsy, lafora type and progressive myoclonus epilepsy, and has symptoms including autosomal recessive inheritance, visual loss and psychosis. An important gene associated with Epilepsy, Progressive Myoclonic 2b is EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)), and among its related pathways are MPS VI - Maroteaux-Lamy syndrome and Glucose metabolism. The compound glycogen have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and liver, and related mouse phenotypes are muscle and other.

NIH Rare Diseases:43 Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. the condition most commonly begins with epileptic seizures in adolescence. other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. affected individuals experience rapid cognitive deterioration and progressive increase in intensity of seizures and myoclonus. the condition is often fatal within 4 to 10 years of onset. most cases are caused by mutations in either the emp2a or nhlrc1 (also called emp2b) gene and are inherited in an autosomal recessive manner. treatment focuses on alleviating symptoms and typically includes antiepileptic and antimyoclonic drugs, and psychological support. last updated: 6/10/2013

Aliases & Classifications for Epilepsy, Progressive Myoclonic 2b

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Sources:
47OMIM, 10Disease Ontology, 43NIH Rare Diseases, 11diseasecard, 45Novoseek, 49Orphanet, 62UMLS, 24GTR, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Epilepsy, Progressive Myoclonic 2b, Aliases & Descriptions:

Name: Epilepsy, Progressive Myoclonic 2b 47
Lafora Disease 10 43 45 49 62
Progressive Myoclonic Epilepsy Type 2 43 49 62
Myoclonic Epilepsy of Lafora 47 10 43
Progressive Myoclonus Epilepsy Type 2 43 49
Epilepsy, Progressive Myoclonic 2a 47 11
 
Lafora's Disease 10 24
Lafora Progressive Myoclonic Epilepsy 10
Epilepsy Progressive Myoclonic 2 43
Lafora Body Disorder 43
Epm2 43
Melf 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
lafora disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Childhood


External Ids:

OMIM47 254780
Disease Ontology10 DOID:3534
MeSH35 D020192
NCIt40 C84804
SNOMED-CT57 230425004
Orphanet49 501
MESH via Orphanet36 D020192
ICD10 via Orphanet28 G40.3
UMLS via Orphanet63 C0751783

Related Diseases for Epilepsy, Progressive Myoclonic 2b

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Diseases in the Myoclonic Epilepsy of Infancy family:

Epilepsy, Familial Adult Myoclonic, 5 Epilepsy, Familial Adult Myoclonic, 4
Epilepsy, Progressive Myoclonic 7 Epilepsy, Progressive Myoclonic 5
Epilepsy, Juvenile Myoclonic 5 epilepsy, progressive myoclonic 2b
Myoclonic Epilepsy, Juvenile 1 Epilepsy, Progressive Myoclonic 1b
Myoclonic Epilepsy, Infantile, Familial Epilepsy, Progressive Myoclonic 6
Epilepsy, Progressive Myoclonic 1a Epilepsy Progressive Myoclonic Type 3
Scn1a-Related Severe Myoclonic Epilepsy in Infancy Gabra1-Related Juvenile Myoclonic Epilepsy
Cacnb4-Related Juvenile Myoclonic Epilepsy Clcn2-Related Juvenile Myoclonic Epilepsy
Gabrd-Related Juvenile Myoclonic Epilepsy Efhc1-Related Juvenile Myoclonic Epilepsy
Ejm2-Related Juvenile Myoclonic Epilepsy Ejm3-Related Juvenile Myoclonic Epilepsy
Ejm4-Related Juvenile Myoclonic Epilepsy Benign Adult Familial Myoclonic Epilepsy

Diseases related to Epilepsy, Progressive Myoclonic 2b via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1progressive myoclonus epilepsy, lafora type30.7NHLRC1, EPM2A
2progressive myoclonus epilepsy30.5NHLRC1, EPM2A
3dementia30.0NHLRC1, EPM2A
4myoclonus10.4
5adenocarcinoma10.4
6myoclonus epilepsy10.4
7neuronitis10.3
8endometrial adenocarcinoma10.2
9cerebritis10.2
10epm2a-related lafora disease10.2
11nhlrc1-related lafora disease10.2
12epilepsy, progressive myoclonic 1a10.1
13congenital generalized lipodystrophy10.1
14lipodystrophy10.1
15brainstem auditory evoked responses10.1
16epilepsy syndrome10.0NHLRC1, EPM2A

Graphical network of diseases related to Epilepsy, Progressive Myoclonic 2b:



Diseases related to epilepsy, progressive myoclonic 2b

Symptoms for Epilepsy, Progressive Myoclonic 2b

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Symptoms by clinical synopsis from OMIM:

254780

Clinical features from OMIM:

254780

HPO human phenotypes related to Epilepsy, Progressive Myoclonic 2b:

(show all 19)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 visual loss HP:0000572
3 psychosis HP:0000709
4 dementia HP:0000726
5 cutaneous photosensitivity HP:0000992
6 gait disturbance HP:0001288
7 myoclonus HP:0001336
8 hepatic failure HP:0001399
9 heterogeneous HP:0001425
10 abnormality of metabolism/homeostasis HP:0001939
11 generalized tonic-clonic seizures HP:0002069
12 absence seizures HP:0002121
13 generalized myoclonic seizures HP:0002123
14 apraxia HP:0002186
15 progressive neurologic deterioration HP:0002344
16 visual hallucinations HP:0002367
17 rapidly progressive HP:0003678
18 bilateral convulsive seizures HP:0007334
19 visual auras HP:0011165

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic 2b

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Drug clinical trials:

Search ClinicalTrials for Epilepsy, Progressive Myoclonic 2b

Search NIH Clinical Center for Epilepsy, Progressive Myoclonic 2b

Genetic Tests for Epilepsy, Progressive Myoclonic 2b

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Genetic tests related to Epilepsy, Progressive Myoclonic 2b:

id Genetic test Affiliating Genes
1 Lafora Disease24

Anatomical Context for Epilepsy, Progressive Myoclonic 2b

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MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic 2b:

33
Brain, Heart, Liver

Animal Models for Epilepsy, Progressive Myoclonic 2b or affiliated genes

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MGI Mouse Phenotypes related to Epilepsy, Progressive Myoclonic 2b:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1EPM2A, NHLRC1
2MP:00053959.0EPM2A, NHLRC1
3MP:00053708.8EPM2A, NHLRC1

Publications for Epilepsy, Progressive Myoclonic 2b

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Variations for Epilepsy, Progressive Myoclonic 2b

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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic 2b:

64 (show all 41)
id Symbol AA change Variation ID SNP ID
1EPM2Ap.Ser25ProVAR_019465
2EPM2Ap.Glu28LysVAR_019466
3EPM2Ap.Trp32GlyVAR_019467
4EPM2Ap.Phe84LeuVAR_019469
5EPM2Ap.Phe88LeuVAR_019470
6EPM2Ap.Arg91ProVAR_019471
7EPM2Ap.Arg108CysVAR_019472
8EPM2Ap.Arg171HisVAR_019474
9EPM2Ap.Thr187AlaVAR_019475
10EPM2Ap.Thr194IleVAR_019476
11EPM2Ap.Gly240SerVAR_019477
12EPM2Ap.Gly279SerVAR_019478
13EPM2Ap.Gln293LeuVAR_019479
14EPM2Ap.Tyr294AsnVAR_019480
15EPM2Ap.Pro301LeuVAR_019481
16EPM2Ap.Lys140AsnVAR_046383
17EPM2Ap.Asn148TyrVAR_046384
18EPM2Ap.Glu210LysVAR_046385
19EPM2Ap.Leu310TrpVAR_046386
20NHLRC1p.Cys26SerVAR_019482rs28940575
21NHLRC1p.Phe33SerVAR_019483
22NHLRC1p.Pro69AlaVAR_019484rs28940576
23NHLRC1p.Leu87ProVAR_019485
24NHLRC1p.Asp146AsnVAR_019487
25NHLRC1p.Gln302ProVAR_019488
26NHLRC1p.Ser22ArgVAR_046387
27NHLRC1p.Glu67GlnVAR_046388
28NHLRC1p.Cys68TyrVAR_046389
29NHLRC1p.Leu126ProVAR_046390
30NHLRC1p.Ile153MetVAR_046391
31NHLRC1p.Cys160ArgVAR_046392rs200595273
32NHLRC1p.Ile198AsnVAR_046393
33NHLRC1p.Trp219ArgVAR_046394
34NHLRC1p.Asp233AlaVAR_046395
35NHLRC1p.Asp245AsnVAR_046396
36NHLRC1p.Arg253LysVAR_046397
37NHLRC1p.Pro264HisVAR_046398
38NHLRC1p.Leu279ProVAR_046399
39NHLRC1p.Asp308AlaVAR_046401
40NHLRC1p.Cys46TyrVAR_070793
41NHLRC1p.Leu261ProVAR_070794

Clinvar genetic disease variations for Epilepsy, Progressive Myoclonic 2b:

7
id Gene Variation Type Significance SNP ID Assembly Location
1EPM2ANM_005670.3(EPM2A): c.721C> T (p.Arg241Ter)single nucleotide variantPathogenicrs104893950GRCh37Chr 6, 145948827: 145948827
2EPM2ANM_005670.3(EPM2A): c.835G> A (p.Gly279Ser)single nucleotide variantPathogenicrs137852917GRCh37Chr 6, 145948713: 145948713
3EPM2ANM_005670.3(EPM2A): c.322C> T (p.Arg108Cys)single nucleotide variantPathogenicrs137852915GRCh37Chr 6, 146007412: 146007412
4EPM2ANM_005670.3(EPM2A): c.335dupA (p.Tyr112Terfs)duplicationPathogenicGRCh37Chr 6, 146007399: 146007399
5EPM2ANM_005670.3(EPM2A): c.512G> A (p.Arg171His)single nucleotide variantPathogenicrs137852916GRCh37Chr 6, 145956587: 145956587
6EPM2ANM_005670.3(EPM2A): c.950dupT (p.Gln319Profs)duplicationPathogenicGRCh37Chr 6, 145948598: 145948598
7NM_005670.3(EPM2A): c.94T> G (p.Trp32Gly)single nucleotide variantPathogenicrs104893955GRCh37Chr 6, 146056541: 146056541

Expression for genes affiliated with Epilepsy, Progressive Myoclonic 2b

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Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic 2b.

Pathways for genes affiliated with Epilepsy, Progressive Myoclonic 2b

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Pathways related to Epilepsy, Progressive Myoclonic 2b according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1EPM2A, NHLRC1
2
Show member pathways
malate-aspartate shuttle38
glycogen biosynthesis II (from UDP-D-Glucose)38
9.1EPM2A, NHLRC1

Compounds for genes affiliated with Epilepsy, Progressive Myoclonic 2b

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Sources:
45Novoseek, 26HMDB
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Compounds related to Epilepsy, Progressive Myoclonic 2b according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glycogen45 2610.1EPM2A, NHLRC1

GO Terms for genes affiliated with Epilepsy, Progressive Myoclonic 2b

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Cellular components related to Epilepsy, Progressive Myoclonic 2b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057839.1EPM2A, NHLRC1

Biological processes related to Epilepsy, Progressive Myoclonic 2b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:00059789.1EPM2A, NHLRC1
2small molecule metabolic processGO:00442819.1EPM2A, NHLRC1
3glucose metabolic processGO:00060069.0EPM2A, NHLRC1
4carbohydrate metabolic processGO:00059758.8EPM2A, NHLRC1

Products for genes affiliated with Epilepsy, Progressive Myoclonic 2b

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Sources for Epilepsy, Progressive Myoclonic 2b

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet