MCID: MYC072
MIFTS: 42

Myoclonic Epilepsy Associated with Ragged-Red Fibers malady

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

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

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Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Myoclonic Epilepsy Associated with Ragged-Red Fibers:

Name: Myoclonic Epilepsy Associated with Ragged-Red Fibers 50 23 24
Merrf Syndrome 11 46 24 13 37 66
Merrf 22 46 23 24 52 48
Fukuhara Syndrome 11 46 52
Myoclonic Epilepsy Associated with Ragged Red Fibers 22 46
Myoclonus with Epilepsy and with Ragged Red Fibers 11 25
Myoencephalopathy Ragged-Red Fiber Disease 46 24
 
Myoclonus Epilepsy Associated with Ragged-Red Fibres 52
Myoclonic Epilepsy with Ragged Red Fibers 46
Myoclonic Epilepsy with Ragged-Red Fibers 24
Myoclonus Epilepsy and Ragged Red Fibers 11
Myoclonic Epilepsy - Ragged Red Fibers 11
Fukuhara Disease 24

Characteristics:

Orphanet epidemiological data:

52
merrf:
Inheritance: Mitochondrial inheritance; Age of onset: Adult,Childhood

HPO:

62
myoclonic epilepsy associated with ragged-red fibers:
Inheritance: mitochondrial inheritance


Classifications:



External Ids:

OMIM50 545000
Disease Ontology11 DOID:310
ICD1028 E88.42
MeSH37 D017243
NCIt43 C84889
Orphanet52 ORPHA551
ICD10 via Orphanet29 G71.3
MESH via Orphanet38 D017243
UMLS via Orphanet67 C0162672

Summaries for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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NIH Rare Diseases:46 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 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies, and has symptoms including sensorineural hearing impairment, multiple lipomas and incoordination. An important gene associated with Myoclonic Epilepsy Associated with Ragged-Red Fibers is MT-TK (Mitochondrially Encoded TRNA Lysine), and among its related pathways is tRNA Aminoacylation. Affiliated tissues include eye.

Genetics Home Reference:24 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:50 545000

GeneReviews summary for NBK1520

Related Diseases for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1merrf/melas overlap syndrome12.2
2mental retardation, obesity, mandibular prognathism, and eye and skin anomalies10.7MT-TK, MT-TL1
3mesp2-related spondylocostal dysostosis, autosomal recessive10.6MT-TH, MT-TK, MT-TL1
4nuclear gene-encoded leigh syndrome10.6MT-RNR1, MT-TS1
5nonsyndromic hearing loss and deafness, autosomal recessive10.5MT-RNR1, MT-TS1
6sparganosis10.5MT-ND5, MT-TL1, MT-TS2
7secondary ciliary dyskinesia10.5MT-RNR1, MT-TH, MT-TS1
8myopathy10.5
9epilepsy10.4
10childhood cerebral astrocytoma10.4MT-ND5, MT-TK
11clubfoot10.3MT-ND4, MT-ND5
12childhood electroclinical syndrome10.3MT-ND4, MT-TK
13noninfectious dermatoses of eyelid10.3MT-ND4, MT-ND5, MT-TK
14lymphoepithelioma-like carcinoma10.3MT-ND4, MT-ND5, MT-TK
15hiv-110.2
16lactic acidosis10.2
17mitochondrial encephalomyopathy10.2
18encephalomyopathy10.2
19adenylosuccinase deficiency10.2MT-ND4, MT-RNR1, MT-TS1
20interstitial lung disease10.1MT-ND4, MT-TK
21mitochondrial membrane protein-associated neurodegeneration10.1MT-ND4, MT-ND5, MT-TK, MT-TL1
22tinea nigra10.1MT-ND4, MT-ND5, MT-TK, MT-TL1
23hallucinogen abuse10.1C10orf2, SOD2
24mucopolysaccharidosis10.0C10orf2, MT-TK
25mitochondrial complex v deficiency, nuclear type 29.9GDAP1, JPH1
26charcot-marie-tooth disease, recessive intermediate, a9.9GDAP1, JPH1
27charcot-marie-tooth disease, axonal, with vocal cord paresis9.9GDAP1, JPH1
28charcot-marie-tooth disease, axonal, type 2k9.9GDAP1, JPH1
29autosomal recessive myosclerosis myopathy9.9C10orf2, TFAM
30mental retardation with spastic paraplegia9.7C10orf2, MT-ND4, MT-ND5, MT-TK, MT-TL1
31esophageal basaloid squamous cell carcinoma9.7MT-ND4, MT-ND5, SOD2
32leigh syndrome9.5CPOX, MT-ND4, MT-ND5, MT-TK, MT-TL1, SDHB
33ulceration of vulva9.2C10orf2, MT-ND4, MT-ND5, MT-TK, MT-TL1, MT-TS1
34mitochondrial complex i deficiency8.8GDAP1, JPH1, MT-ND4, MT-ND5, SOD2
35mitochondrial neurogastrointestinal encephalopathy disease8.6C10orf2, MT-ND4, MT-ND5, MT-TF, MT-TH, MT-TK
36myoclonic epilepsy associated with ragged-red fibers8.3DARS2, JPH1, MT-ND4, MT-ND5, MT-TF, MT-TH
37multiple epiphyseal dysplasia with robin phenotype4.8C10orf2, CARS2, CPOX, DARS2, GDAP1, JPH1

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 for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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Symptoms by clinical synopsis from OMIM:

545000

Clinical features from OMIM:

545000

Symptoms:

 52 (show all 11)
  • sensorineural hearing impairment
  • optic atrophy
  • multiple lipomas
  • ataxia
  • generalized myoclonic seizures
  • myopathy
  • ragged-red muscle fibers
  • emg abnormality
  • short stature
  • abnormality of movement
  • cognitive impairment

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

(show all 20)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 multiple lipomas hallmark (90%) HP:0001012
3 incoordination hallmark (90%) HP:0002311
4 myopathy hallmark (90%) HP:0003198
5 emg abnormality hallmark (90%) HP:0003457
6 abnormality of movement hallmark (90%) HP:0100022
7 short stature typical (50%) HP:0004322
8 cognitive impairment typical (50%) HP:0100543
9 optic atrophy occasional (7.5%) HP:0000648
10 sensorineural hearing impairment HP:0000407
11 seizures HP:0001250
12 ataxia HP:0001251
13 spasticity HP:0001257
14 muscle weakness HP:0001324
15 myoclonus HP:0001336
16 generalized myoclonic seizures HP:0002123
17 increased serum lactate HP:0002151
18 myopathy HP:0003198
19 ragged-red muscle fibers HP:0003200
20 increased serum pyruvate HP:0003542

UMLS symptoms related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:


seizures, epileptic aura, seizures, tonic, myoclonus, eyelid, seizures, focal, convulsion in childhood

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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CysteaminePhase 2, Phase 32660-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
Decarboxycysteine
DivK1c_006750
 
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
2A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
3Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554

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

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

id Genetic test Affiliating Genes
1 Myoclonus with Epilepsy with Ragged Red Fibers25
2 Merrf23 MT-TK

Anatomical Context for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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

34
Eye

Animal Models for Myoclonic Epilepsy Associated with Ragged-Red Fibers or affiliated genes

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Publications for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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

idTitleAuthorsYear
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

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1MT-TINC_012920.1: m.4279A> Gsingle nucleotide variantPathogenicrs797044543GRCh37Chr MT, 4279: 4279
2m.15923A> Gsingle nucleotide variantPathogenicrs193303001GRCh37Chr MT, 15923: 15923
3MT-TPm.15967G> Asingle nucleotide variantPathogenicrs199474701GRCh37Chr MT, 15967: 15967
4MT-TFm.611G> Asingle nucleotide variantPathogenicrs118203886GRCh37Chr MT, 611: 611
5MT-TKm.8344A> Gsingle nucleotide variantPathogenicrs118192098GRCh37Chr MT, 8344: 8344
6MT-TKm.8356T> Csingle nucleotide variantPathogenicrs118192099GRCh37Chr MT, 8356: 8356
7MT-TKm.8363G> Asingle nucleotide variantPathogenicrs118192100GRCh37Chr MT, 8363: 8363
8MT-TKm.8361G> Asingle nucleotide variantPathogenicrs118192104GRCh37Chr MT, 8361: 8361
9MT-TL1m.3243A> Gsingle nucleotide variantPathogenicrs199474657GRCh37Chr MT, 3243: 3243
10MT-TL1m.3256C> Tsingle nucleotide variantPathogenicrs199474659GRCh37Chr MT, 3256: 3256
11MT-TIm.4284G> Asingle nucleotide variantPathogenicrs121434468GRCh37Chr MT, 4284: 4284
12MT-ND5m.13042G> Asingle nucleotide variantPathogenicrs267606898GRCh37Chr MT, 13042: 13042

Expression for genes affiliated with Myoclonic Epilepsy Associated with Ragged-Red Fibers

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

Pathways for genes affiliated with Myoclonic Epilepsy Associated with Ragged-Red Fibers

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.1CARS2, DARS2, MT-TF, MT-TH, MT-TK, MT-TL1

GO Terms for genes affiliated with Myoclonic Epilepsy Associated with Ragged-Red Fibers

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:00426459.3C10orf2, SOD2, TFAM
2mitochondrial inner membraneGO:00057438.6CPOX, MT-ND4, MT-ND5, SDHB, SOD2
3mitochondrial matrixGO:00057598.6C10orf2, CARS2, DARS2, SOD2, TFAM
4mitochondrionGO:00057396.7C10orf2, CPOX, DARS2, GDAP1, MT-ND4, SDHB

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

idNameGO IDScoreTop Affiliating Genes
1respiratory electron transport chainGO:002290410.1SDHB, SOD2
2transcription from mitochondrial promoterGO:00063909.7C10orf2, TFAM
3mitochondrion organizationGO:00070059.0C10orf2, SOD2, TFAM

Sources for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet