MCID: MYC072
MIFTS: 42

Myoclonic Epilepsy Associated with Ragged-Red Fibers

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Muscle diseases

Aliases & Classifications for Myoclonic Epilepsy Associated with Ragged-Red Fibers

MalaCards integrated aliases for Myoclonic Epilepsy Associated with Ragged-Red Fibers:

Name: Myoclonic Epilepsy Associated with Ragged-Red Fibers 54 24 25
Merrf Syndrome 12 50 25 42 14 69
Merrf 23 50 24 25 56 52
Fukuhara Syndrome 12 50 56
Myoclonic Epilepsy Associated with Ragged Red Fibers 23 50
Myoencephalopathy Ragged-Red Fiber Disease 50 25
Myoclonus Epilepsy Associated with Ragged-Red Fibres 56
Myoclonus with Epilepsy and with Ragged Red Fibers 12
Myoclonus with Epilepsy with Ragged Red Fibers 29
Myoclonic Epilepsy with Ragged Red Fibers 50
Myoclonic Epilepsy with Ragged-Red Fibers 25
Myoclonus Epilepsy and Ragged Red Fibers 12
Myoclonic Epilepsy - Ragged Red Fibers 12
Fukuhara Disease 25

Characteristics:

Orphanet epidemiological data:

56
merrf
Inheritance: Mitochondrial inheritance; Age of onset: Adult,Childhood;

OMIM:

54
Inheritance:
mitochondrial.


HPO:

32
myoclonic epilepsy associated with ragged-red fibers:
Inheritance mitochondrial inheritance


GeneReviews:

23
Penetrance See genotype-phenotype correlations...

Classifications:



Summaries for Myoclonic Epilepsy Associated with Ragged-Red Fibers

NIH Rare Diseases : 50 myoclonic epilepsy with ragged red fibers (merrf) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. symptoms usually first appear in childhood or adolescence after normal early development. the features of merrf vary widely from individual to individual, even within families. other common findings include hearing loss, short stature, optic atrophy, and cardiomyopathy with wolff-parkinson-white (wpw) syndrome. the diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (rrf). in over 80% of cases, merrf is caused by mutations in the mitochondrial gene called mt-tk. several other mitochondrial genes have also been reported to cause merrf, but many of the individuals with mutations in these other genes have additional signs and symptoms.seizures associated with merrf are generally treated with conventional anticonvulsant therapy.  coenzyme q10 and l-carnitine are often used with the hope of improving mitochondrial function. last updated: 3/16/2016

MalaCards based summary : Myoclonic Epilepsy Associated with Ragged-Red Fibers, also known as merrf syndrome, is related to merrf/melas overlap syndrome and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, and has symptoms including short stature, optic atrophy and ataxia. An important gene associated with Myoclonic Epilepsy Associated with Ragged-Red Fibers is MT-TK (Mitochondrially Encoded TRNA Lysine), and among its related pathways/superpathways is tRNA Aminoacylation. The drug Ubiquinone has been mentioned in the context of this disorder. Affiliated tissues include eye.

Genetics Home Reference : 25 Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family.

Description from OMIM: 545000
GeneReviews: NBK1520

Related Diseases for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Diseases related to Myoclonic Epilepsy Associated with Ragged-Red Fibers via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
id Related Disease Score Top Affiliating Genes
1 merrf/melas overlap syndrome 12.0
2 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.9
3 distal hereditary motor neuropathy type v 10.7 MT-TK MT-TL1
4 moved to {607459} 10.7 MT-TK MT-TL1
5 congenital pulmonary veins atresia or stenosis 10.6 MT-TL1 MT-TS1
6 sparganosis 10.5 MT-ND5 MT-TL1 MT-TS2
7 isolated congenital alacrima 10.5 MT-RNR1 MT-TH MT-TS1
8 epilepsy 10.3
9 enchondromatosis dwarfism deafness 10.2 MT-ND4 MT-ND5
10 mhs3-related malignant hyperthermia susceptibility 10.2 MT-TH MT-TK MT-TL1 MT-TS1 MT-TS2
11 hiv-1 10.1
12 lactic acidosis 10.1
13 mitochondrial encephalomyopathy 10.1
14 encephalomyopathy 10.1
15 adenylosuccinase deficiency 10.1 MT-ND4 MT-RNR1 MT-TS1
16 mitochondrial neurogastrointestinal encephalopathy disease 10.1 MT-ND4 MT-ND5 MT-TK MT-TL1
17 dyscalculia 10.1 MT-TI MT-TK SDHB TWNK
18 protoplasmic astrocytoma 10.1 MT-ND4 MT-ND5 MT-TK MT-TL1
19 androgen insensitivity 10.0 MT-ND4 MT-ND5 MT-TK
20 dermatophytosis 10.0 MT-ND4 MT-ND5 MT-TK MT-TL1
21 chronic lacrimal gland enlargement 9.8 SOD2 TWNK
22 b9d2-related meckel syndrome 9.7 TFAM TWNK
23 charcot-marie-tooth disease, dominant intermediate f 9.7 DARS2 MT-ND4 MT-TK TWNK
24 mitochondrial complex i deficiency 9.4 JPH1 MT-ND4 MT-ND5 SOD2
25 bjornstad syndrome 9.3 CPOX MT-ND4 MT-ND5 MT-TI MT-TK MT-TL1
26 mental retardation with spastic paraplegia 9.1 MT-ND4 MT-ND5 MT-TK MT-TL1 TFAM TWNK
27 multiminicore disease 7.2 CPOX MT-ND4 MT-ND5 MT-TF MT-TH MT-TK
28 multiple epiphyseal dysplasia with robin phenotype 5.2 CARS2 CPOX DARS2 JPH1 MT-ND4 MT-ND5

Graphical network of the top 20 diseases related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:



Diseases related to Myoclonic Epilepsy Associated with Ragged-Red Fibers

Symptoms & Phenotypes for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Symptoms via clinical synopsis from OMIM:

54

Neuro:
myoclonus epilepsy. ataxia. spasticity.

Ears:
sensorineural hearing loss.

Muscle:
muscle weakness. myopathy.

Lab:
ragged-red muscle fibers. serum pyruvate or pyruvate and lactate elevated. defect in translation of all mtdna-encoded genes.


Clinical features from OMIM:

545000

Human phenotypes related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 optic atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0000648
3 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 cognitive impairment 56 32 frequent (33%) Frequent (79-30%) HP:0100543
5 myopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003198
6 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
7 emg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0003457
8 abnormality of movement 56 32 hallmark (90%) Very frequent (99-80%) HP:0100022
9 generalized myoclonic seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002123
10 multiple lipomas 56 32 frequent (33%) Frequent (79-30%) HP:0001012
11 ragged-red muscle fibers 56 32 hallmark (90%) Very frequent (99-80%) HP:0003200
12 myoclonus 32 HP:0001336
13 spasticity 32 HP:0001257
14 seizures 32 HP:0001250
15 muscle weakness 32 HP:0001324
16 increased serum lactate 32 HP:0002151
17 increased serum pyruvate 32 HP:0003542

Drugs & Therapeutics for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Drugs for Myoclonic Epilepsy Associated with Ragged-Red Fibers (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ubiquinone

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
2 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search NIH Clinical Center for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Cochrane evidence based reviews: merrf syndrome

Genetic Tests for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Genetic tests related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:

id Genetic test Affiliating Genes
1 Myoclonus with Epilepsy with Ragged Red Fibers 29
2 Merrf 24 MT-TK

Anatomical Context for Myoclonic Epilepsy Associated with Ragged-Red Fibers

MalaCards organs/tissues related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:

39
Eye

Publications for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Articles related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:

id Title Authors Year
1
Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction. ( 16645216 )
2006
2
HIV disease progression and limited antiretroviral treatment options for a HIV-1 infected individual with myoclonic epilepsy associated with ragged red fibers. ( 16120382 )
2004

Variations for Myoclonic Epilepsy Associated with Ragged-Red Fibers

ClinVar genetic disease variations for Myoclonic Epilepsy Associated with Ragged-Red Fibers:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-TP m.15967G> A single nucleotide variant Pathogenic rs199474701 GRCh37 Chromosome MT, 15967: 15967
2 MT-TF m.611G> A single nucleotide variant Pathogenic rs118203886 GRCh37 Chromosome MT, 611: 611
3 MT-TK m.8356T> C single nucleotide variant Pathogenic rs118192099 GRCh37 Chromosome MT, 8356: 8356
4 MT-TK m.8363G> A single nucleotide variant Pathogenic rs118192100 GRCh37 Chromosome MT, 8363: 8363
5 MT-TK m.8361G> A single nucleotide variant Pathogenic rs118192104 GRCh37 Chromosome MT, 8361: 8361
6 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
7 MT-TL1 m.3256C> T single nucleotide variant Pathogenic rs199474659 GRCh37 Chromosome MT, 3256: 3256
8 MT-TI m.4284G> A single nucleotide variant Pathogenic rs121434468 GRCh37 Chromosome MT, 4284: 4284
9 MT-ND5 m.13042G> A single nucleotide variant Pathogenic rs267606898 GRCh37 Chromosome MT, 13042: 13042
10 MT-TI NC_012920.1: m.4279A> G single nucleotide variant Pathogenic rs797044543 GRCh37 Chromosome MT, 4279: 4279

Expression for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Search GEO for disease gene expression data for Myoclonic Epilepsy Associated with Ragged-Red Fibers.

Pathways for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Pathways related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 CARS2 DARS2 MT-TF MT-TH MT-TI MT-TK

GO Terms for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Cellular components related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.65 CPOX MT-ND4 MT-ND5 SDHB SOD2
2 mitochondrial matrix GO:0005759 9.55 CARS2 DARS2 SOD2 TFAM TWNK
3 mitochondrion GO:0005739 9.28 CARS2 CPOX DARS2 MT-ND4 MT-ND5 SDHB
4 mitochondrial nucleoid GO:0042645 9.13 SOD2 TFAM TWNK

Biological processes related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.72 CPOX MT-ND4 MT-ND5 SDHB SOD2
2 mitochondrion organization GO:0007005 9.33 SOD2 TFAM TWNK
3 respiratory electron transport chain GO:0022904 9.26 SDHB SOD2
4 transcription from mitochondrial promoter GO:0006390 8.96 TFAM TWNK
5 ATP synthesis coupled electron transport GO:0042773 8.62 MT-ND4 MT-ND5

Molecular functions related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.02 CPOX MT-ND4 MT-ND5 SDHB SOD2

Sources for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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
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36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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46 NCI
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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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