MCID: MYC072
MIFTS: 40

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:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

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

Name: Myoclonic Epilepsy Associated with Ragged-Red Fibers 51 24 25
Merrf Syndrome 11 47 25 38 13 67
Merrf 23 47 24 25 53 49
Fukuhara Syndrome 11 47 53
Myoclonic Epilepsy Associated with Ragged Red Fibers 23 47
Myoclonus with Epilepsy and with Ragged Red Fibers 11 26
Myoencephalopathy Ragged-Red Fiber Disease 47 25
 
Myoclonus Epilepsy Associated with Ragged-Red Fibres 53
Myoclonic Epilepsy with Ragged Red Fibers 47
Myoclonic Epilepsy with Ragged-Red Fibers 25
Myoclonus Epilepsy and Ragged Red Fibers 11
Myoclonic Epilepsy - Ragged Red Fibers 11
Fukuhara Disease 25

Characteristics:

Orphanet epidemiological data:

53
merrf:
Inheritance: Mitochondrial inheritance; Age of onset: Adult,Childhood

HPO:

63
myoclonic epilepsy associated with ragged-red fibers:
Inheritance: mitochondrial inheritance

GeneReviews:

23
Penetrance: see genotype-phenotype correlations...


Classifications:



External Ids:

OMIM51 545000
Disease Ontology11 DOID:310
ICD1029 E88.42
MeSH38 D017243
NCIt44 C84889
Orphanet53 ORPHA551
ICD10 via Orphanet30 G71.3
MESH via Orphanet39 D017243
UMLS via Orphanet68 C0162672

Summaries for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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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.

MalaCards based summary: Myoclonic Epilepsy Associated with Ragged-Red Fibers, also known as merrf syndrome, is related to merrf/melas overlap syndrome and myopathy, 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.

Description from OMIM:51 545000

GeneReviews 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 34)
idRelated DiseaseScoreTop Affiliating Genes
1merrf/melas overlap syndrome12.0
2myopathy11.1
3mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes10.9
4mental retardation, obesity, mandibular prognathism, and eye and skin anomalies10.6MT-TK, MT-TL1
5mesp2-related spondylocostal dysostosis, autosomal recessive10.5MT-TH, MT-TK, MT-TL1
6nuclear gene-encoded leigh syndrome10.5MT-RNR1, MT-TS1
7nonsyndromic hearing loss and deafness, autosomal recessive10.4MT-RNR1, MT-TS1
8sparganosis10.4MT-ND5, MT-TL1, MT-TS2
9secondary ciliary dyskinesia10.4MT-RNR1, MT-TH, MT-TS1
10childhood cerebral astrocytoma10.3MT-ND5, MT-TK
11epilepsy10.3
12noninfectious dermatoses of eyelid10.3MT-ND4, MT-ND5, MT-TK
13clubfoot10.3MT-ND4, MT-ND5
14lymphoepithelioma-like carcinoma10.2MT-ND4, MT-ND5, MT-TK
15childhood electroclinical syndrome10.2MT-ND4, MT-TK
16adenylosuccinase deficiency10.2MT-ND4, MT-RNR1, MT-TS1
17mitochondrial membrane protein-associated neurodegeneration10.1MT-ND4, MT-ND5, MT-TK, MT-TL1
18tinea nigra10.1MT-ND4, MT-ND5, MT-TK, MT-TL1
19hiv-110.1
20lactic acidosis10.1
21mitochondrial encephalomyopathy10.1
22encephalomyopathy10.1
23mental retardation with spastic paraplegia10.1MT-ND4, MT-ND5, MT-TK, MT-TL1
24mitochondrial complex v deficiency, nuclear type 210.1GDAP1, JPH1
25charcot-marie-tooth disease, recessive intermediate, a10.1GDAP1, JPH1
26charcot-marie-tooth disease, axonal, with vocal cord paresis10.0GDAP1, JPH1
27charcot-marie-tooth disease, axonal, type 2k10.0GDAP1, JPH1
28interstitial lung disease9.9MT-ND4, MT-TK
29esophageal basaloid squamous cell carcinoma9.8MT-ND4, MT-ND5, SOD2
30ulceration of vulva9.5MT-ND4, MT-ND5, MT-TI, MT-TK, MT-TL1, MT-TS1
31leigh syndrome9.5CPOX, MT-ND4, MT-ND5, MT-TI, MT-TK, MT-TL1
32mitochondrial complex i deficiency9.2GDAP1, JPH1, MT-ND4, MT-ND5, SOD2
33mitochondrial neurogastrointestinal encephalopathy disease9.2MT-ND4, MT-ND5, MT-TF, MT-TH, MT-TK, MT-TL1
34multiple epiphyseal dysplasia with robin phenotype6.0CARS2, CPOX, DARS2, GDAP1, JPH1, MT-ND4

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

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

 63 53 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000407
2 multiple lipomas63 53 hallmark (90%) Frequent (79-30%) HP:0001012
3 incoordination63 hallmark (90%) HP:0002311
4 myopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0003198
5 emg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0003457
6 abnormality of movement63 53 hallmark (90%) Very frequent (99-80%) HP:0100022
7 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
8 cognitive impairment63 53 typical (50%) Frequent (79-30%) HP:0100543
9 optic atrophy63 53 occasional (7.5%) Frequent (79-30%) HP:0000648
10 seizures63 HP:0001250
11 ataxia63 53 Very frequent (99-80%) HP:0001251
12 spasticity63 HP:0001257
13 muscle weakness63 HP:0001324
14 myoclonus63 HP:0001336
15 generalized myoclonic seizures63 53 Very frequent (99-80%) HP:0002123
16 increased serum lactate63 HP:0002151
17 ragged-red muscle fibers63 53 Very frequent (99-80%) HP:0003200
18 increased serum pyruvate63 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
Cysteamineapproved, investigationalPhase 2, Phase 32760-23-16058
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
╬▓-MEA
╬▓-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 TaiwanUnknown statusNCT02114554

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 Fibers26
2 Merrf24 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:

35
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> GSNVPathogenicrs797044543GRCh37Chr MT, 4279: 4279
2MT-TP;MT-TTm.15923A> GSNVPathogenicrs193303001GRCh37Chr MT, 15923: 15923
3MT-TPm.15967G> ASNVPathogenicrs199474701GRCh37Chr MT, 15967: 15967
4MT-TFm.611G> ASNVPathogenicrs118203886GRCh37Chr MT, 611: 611
5MT-TKm.8344A> GSNVPathogenicrs118192098GRCh37Chr MT, 8344: 8344
6MT-TKm.8356T> CSNVPathogenicrs118192099GRCh37Chr MT, 8356: 8356
7MT-TKm.8363G> ASNVPathogenicrs118192100GRCh37Chr MT, 8363: 8363
8MT-TKm.8361G> ASNVPathogenicrs118192104GRCh37Chr MT, 8361: 8361
9MT-TL1m.3243A> GSNVPathogenicrs199474657GRCh37Chr MT, 3243: 3243
10MT-TL1m.3256C> TSNVPathogenicrs199474659GRCh37Chr MT, 3256: 3256
11MT-TIm.4284G> ASNVPathogenicrs121434468GRCh37Chr MT, 4284: 4284
12MT-ND5m.13042G> ASNVPathogenicrs267606898GRCh37Chr 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
7.9CARS2, DARS2, MT-TF, MT-TH, MT-TI, MT-TK

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 matrixGO:00057599.1CARS2, DARS2, SOD2, TFAM
2mitochondrial inner membraneGO:00057438.8CPOX, MT-ND4, MT-ND5, SDHB, SOD2
3mitochondrionGO:00057397.5CPOX, DARS2, GDAP1, MT-ND4, SDHB, SOD2

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:00229049.8SDHB, SOD2

Sources for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet