MERRF
MCID: MYC072
MIFTS: 39

Myoclonic Epilepsy Associated with Ragged-Red Fibers (MERRF) 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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

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

Name: Myoclonic Epilepsy Associated with Ragged-Red Fibers 52 24 25
Merrf Syndrome 11 48 25 39 13 68
Merrf 23 48 24 25 54 50
Fukuhara Syndrome 11 48 54
Myoclonic Epilepsy Associated with Ragged Red Fibers 23 48
Myoclonus with Epilepsy and with Ragged Red Fibers 11 27
Myoencephalopathy Ragged-Red Fiber Disease 48 25
 
Myoclonus Epilepsy Associated with Ragged-Red Fibres 54
Myoclonic Epilepsy with Ragged Red Fibers 48
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:

54
merrf:
Inheritance: Mitochondrial inheritance; Age of onset: Adult,Childhood

HPO:

64
myoclonic epilepsy associated with ragged-red fibers:
Inheritance: mitochondrial inheritance

GeneReviews:

23
Penetrance: see genotype-phenotype correlations...


Classifications:



External Ids:

OMIM52 545000
Disease Ontology11 DOID:310
ICD1030 E88.42
MeSH39 D017243
NCIt45 C84889
Orphanet54 ORPHA551
ICD10 via Orphanet31 G71.3
MESH via Orphanet40 D017243
UMLS via Orphanet69 C0162672

Summaries for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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NIH Rare Diseases:48 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 myopathy, and has symptoms including Array, Array and Array. 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: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:52 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 33)
idRelated DiseaseScoreTop Affiliating Genes
1merrf/melas overlap syndrome12.0
2myopathy11.1
3mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes10.8
4dsg2-related dilated cardiomyopathy10.3MT-TK, MT-TL1
5mental retardation, obesity, mandibular prognathism, and eye and skin anomalies10.3MT-TK, MT-TL1
6epilepsy10.3
7undifferentiated carcinoma of the corpus uteri10.3MT-TL1, MT-TS1
8plp1-related disorders10.2MT-RNR1, MT-TS1
9syphilitic encephalitis10.2MT-ND5, MT-TL1, MT-TS2
10non-functioning pituitary adenoma10.2MT-RNR1, MT-TH, MT-TS1
11nerve fibre bundle defect10.1MT-ND4, MT-ND5, MT-TK
12mucinous intrahepatic cholangiocarcinoma10.1MT-ND4, MT-ND5, MT-TK
13hiv-110.1
14lactic acidosis10.1
15mitochondrial encephalomyopathy10.1
16encephalomyopathy10.1
17adenylosuccinase deficiency10.1MT-ND4, MT-RNR1, MT-TS1
18glioma susceptibility 210.1JPH1, SDHB
19retromolar area cancer10.1MT-ND4, MT-ND5, MT-TK, MT-TL1
20ndp-related retinopathies10.1MT-ND4, MT-ND5, MT-TK, MT-TL1
21growth hormone deficiency, isolated partial10.1DARS2, MT-ND4, MT-TK
22mast cell neoplasm10.1MT-ND4, MT-ND5, MT-TK, MT-TL1
23mental retardation with spastic paraplegia10.1MT-ND4, MT-ND5, MT-TK, MT-TL1
24microlissencephaly iii10.1MT-TH, MT-TK, MT-TL1, MT-TS1, MT-TS2
25alopecia, androgenetic, 210.0MT-ND4, MT-ND5, MT-TK
26muscular dystrophy, congenital10.0GDAP1, JPH1
27glaucoma 1, open angle, 1o10.0GDAP1, JPH1
28enteropathica10.0MT-ND4, MT-ND5
29charcot-marie-tooth disease, axonal, type 2k9.9GDAP1, JPH1
30bjornstad syndrome9.8CPOX, MT-ND4, MT-ND5, MT-TI, MT-TK, MT-TL1
31autoimmune interstitial lung, joint, and kidney disease9.7GDAP1, JPH1, MT-ND4, MT-ND5, SOD2
32nkx2-1-related disorders9.2CPOX, MT-ND4, MT-ND5, MT-TF, MT-TH, MT-TK
33multiple epiphyseal dysplasia with robin phenotype8.2CARS2, 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 & Phenotypes 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:

 54 64 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000407
2 optic atrophy64 54 Frequent (79-30%) HP:0000648
3 multiple lipomas64 54 Frequent (79-30%) HP:0001012
4 ataxia64 54 Very frequent (99-80%) HP:0001251
5 generalized myoclonic seizures64 54 Very frequent (99-80%) HP:0002123
6 myopathy64 54 Very frequent (99-80%) HP:0003198
7 ragged-red muscle fibers64 54 Very frequent (99-80%) HP:0003200
8 emg abnormality64 54 Very frequent (99-80%) HP:0003457
9 short stature64 54 Frequent (79-30%) HP:0004322
10 abnormality of movement64 54 Very frequent (99-80%) HP:0100022
11 cognitive impairment64 54 Frequent (79-30%) HP:0100543
12 seizures64 HP:0001250
13 spasticity64 HP:0001257
14 muscle weakness64 HP:0001324
15 myoclonus64 HP:0001336
16 increased serum lactate64 HP:0002151
17 increased serum pyruvate64 HP:0003542

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Mitochondrial 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 Fibers27
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:

36
Eye

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
id Gene Variation Type Significance SNP ID Assembly Location
1MT-TINC_ 012920.1: m.4279A> GSNVPathogenicrs797044543GRCh37Chr MT, 4279: 4279
2MT-TPm.15967G> ASNVPathogenicrs199474701GRCh37Chr MT, 15967: 15967
3MT-TFm.611G> ASNVPathogenicrs118203886GRCh37Chr MT, 611: 611
4MT-TKm.8356T> CSNVPathogenicrs118192099GRCh37Chr MT, 8356: 8356
5MT-TKm.8363G> ASNVPathogenicrs118192100GRCh37Chr MT, 8363: 8363
6MT-TKm.8361G> ASNVPathogenicrs118192104GRCh37Chr MT, 8361: 8361
7MT-TL1m.3243A> GSNVPathogenicrs199474657GRCh37Chr MT, 3243: 3243
8MT-TL1m.3256C> TSNVPathogenicrs199474659GRCh37Chr MT, 3256: 3256
9MT-TIm.4284G> ASNVPathogenicrs121434468GRCh37Chr MT, 4284: 4284
10MT-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:00057599.7CARS2, DARS2, SOD2, TFAM
2mitochondrial inner membraneGO:00057439.6CPOX, MT-ND4, MT-ND5, SDHB, SOD2
3mitochondrionGO:00057397.1CARS2, CPOX, DARS2, GDAP1, MT-ND4, MT-ND5

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

idNameGO IDScoreTop Affiliating Genes
1ATP synthesis coupled electron transportGO:004277310.5MT-ND4, MT-ND5
2respiratory electron transport chainGO:00229049.8SDHB, SOD2
3oxidation-reduction processGO:00551149.2CPOX, MT-ND4, MT-ND5, SDHB, SOD2

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activityGO:00164918.9CPOX, MT-ND4, MT-ND5, SDHB, SOD2

Sources for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet