MERRF
MCID: MRR001
MIFTS: 56

Merrf Syndrome (MERRF) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Muscle diseases categories
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Summaries for Merrf Syndrome

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NIH Rare Diseases:42 Merrf is a disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia.  symptoms usually first appear in childhood after normal early development but symptoms can also first occur in adulthood.  symptoms vary widely from individual to individual and the course may be slowly progressive or rapidly downhill.  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) .  the condition is caused by mutations - that can be detected with genetic testing in 90% of affected individuals - in the mitochondrial gene called mt-tk.  the seizure disorder is treated with conventional anticonvulsant therapy.  coenzyme q10 and l-carnitine are often used in hopes of improving mitochondrial function. last updated: 6/17/2008

MalaCards based summary: Merrf Syndrome, also known as MERRF, is related to kearns-sayre syndrome and lactic acidosis, and has symptoms including sensorineural deafness/hearing loss, xanthomas/lipomas and ataxia/incoordination/trouble of the equilibrium. An important gene associated with Merrf Syndrome is MT-TK (mitochondrially encoded tRNA lysine), and among its related pathways is tRNA Aminoacylation. The compounds rofecoxib and meloxicam have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and skin.

Genetics Home Reference:21 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.

Wikipedia:65 MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease. It is... more...

Description from OMIM:46 545000

GeneReviews summary for merrf

Aliases & Classifications for Merrf Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 62UMLS, 48Orphanet, 19GeneReviews, 20GeneTests, 44Novoseek, 46OMIM, 22GTR, 34MeSH, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Merrf Syndrome, Aliases & Descriptions:

Name: Merrf Syndrome 8 42 21 62
Merrf 19 42 20 21 44 48 46
Fukuhara Syndrome 8 42 48 62
Myoencephalopathy Ragged-Red Fiber Disease 42 21 62
Myoclonic Epilepsy Associated with Ragged-Red Fibers 42 21
Myoclonus with Epilepsy with Ragged Red Fibers 42 22
Myoclonic Epilepsy - Ragged Red Fibers 8 62
 
Fukuhara Disease 21 62
Myoclonic Epilepsy Associated with Ragged Red Fibers 19
Myoclonus Epilepsy Associated with Ragged-Red Fibers 48
Myoclonus with Epilepsy and with Ragged Red Fibers 8
Myoclonic Epilepsy with Ragged-Red Fibers 21
Myoclonic Epilepsy with Ragged Red Fibers 62
Myoclonus Epilepsy and Ragged Red Fibers 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
merrf:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/1000000; Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:310
OMIM46 545000
NCIt39 C84889
MESH via Orphanet35 D017243
ICD10 via Orphanet26 G71.3
UMLS via Orphanet63 C0162672

Related Diseases for Merrf Syndrome

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Graphical network of the top 20 diseases related to Merrf Syndrome:



Diseases related to merrf syndrome

Symptoms for Merrf Syndrome

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Symptoms by clinical synopsis from OMIM:

545000

Clinical features from OMIM:

545000

Symptoms:

48 (show all 11)
  • sensorineural deafness/hearing loss
  • xanthomas/lipomas
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • seizures/epilepsy/absences/spasms/status epilepticus
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • optic nerve anomaly/optic atrophy/anomaly of the papilla

HPO human phenotypes related to Merrf Syndrome:

(show all 22)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 multiple lipomas hallmark (90%) HP:0001012
3 seizures hallmark (90%) HP:0001250
4 incoordination hallmark (90%) HP:0002311
5 myopathy hallmark (90%) HP:0003198
6 emg abnormality hallmark (90%) HP:0003457
7 abnormality of movement hallmark (90%) HP:0100022
8 short stature typical (50%) HP:0004322
9 cognitive impairment typical (50%) HP:0100543
10 optic atrophy occasional (7.5%) HP:0000648
11 sensorineural hearing impairment HP:0000407
12 seizures HP:0001250
13 ataxia HP:0001251
14 spasticity HP:0001257
15 muscle weakness HP:0001324
16 myoclonus HP:0001336
17 mitochondrial inheritance HP:0001427
18 generalized myoclonic seizures HP:0002123
19 increased serum lactate HP:0002151
20 myopathy HP:0003198
21 ragged-red muscle fibers HP:0003200
22 increased serum pyruvate HP:0003542

Drugs & Therapeutics for Merrf Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Merrf Syndrome

Genetic Tests for Merrf Syndrome

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Genetic tests related to Merrf Syndrome:

id Genetic test Affiliating Genes
1 Merrf20 MT-TK
2 Myoclonus with Epilepsy with Ragged Red Fibers22

Anatomical Context for Merrf Syndrome

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MalaCards organs/tissues related to Merrf Syndrome:

32
Testes, Eye, Skin

Animal Models for Merrf Syndrome or affiliated genes

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Publications for Merrf Syndrome

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Articles related to Merrf Syndrome:

(show all 27)
idTitleAuthorsYear
1
Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery. (24199594)
2013
2
Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome. (20411357)
2010
3
Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome). (20976001)
2010
4
MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. (20190488)
2010
5
Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report. (18412280)
2008
6
MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. (17275787)
2007
7
Antimyoclonic effect of levetiracetam in MERRF syndrome. (16414077)
2006
8
High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome. (15965049)
2005
9
Upregulation of matrix metalloproteinase 1 and disruption of mitochondrial network in skin fibroblasts of patients with MERRF syndrome. (15965045)
2005
10
Anesthetic management of a patient with MERRF syndrome. (15649170)
2005
11
Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. (15317755)
2004
12
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. (15184630)
2004
13
Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome. (12876264)
2003
14
Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR. (11160915)
2001
15
Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates. (9315896)
1997
16
MERRF syndrome with overwhelming lactic acidosis. (8652018)
1996
17
Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome. (8622733)
1996
18
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. (8676159)
1996
19
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. (7647790)
1995
20
Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome. (7606176)
1995
21
Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas. (7603509)
1995
22
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene. (8264702)
1994
23
Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. (8447321)
1993
24
Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome. (1300181)
1992
25
Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. (1463006)
1992
26
Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome. (1905454)
1991
27
A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. (1910259)
1991

Variations for Merrf Syndrome

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Clinvar genetic disease variations for Merrf Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1MT-TFm.611G> Asingle nucleotide variantPathogenicrs118203886GRCh37Chr MT, 611: 611
2MT-TKm.8344A> Gsingle nucleotide variantPathogenicrs118192098GRCh37Chr MT, 8344: 8344
3MT-TKm.8356T> Csingle nucleotide variantPathogenicrs118192099GRCh37Chr MT, 8356: 8356
4MT-TKm.8361G> Asingle nucleotide variantPathogenicrs118192104GRCh37Chr MT, 8361: 8361
5MT-TL1m.3256C> Tsingle nucleotide variantPathogenicrs199474659GRCh37Chr MT, 3256: 3256
6MT-ND5m.13042G> Asingle nucleotide variantPathogenicrs267606898GRCh37Chr MT, 13042: 13042

Expression for genes affiliated with Merrf Syndrome

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Expression patterns in normal tissues for genes affiliated with Merrf Syndrome

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Pathways for genes affiliated with Merrf Syndrome

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Pathways related to Merrf Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.1MT-TK, MT-TQ, MT-TS2, MT-TP, MT-TF, MT-TH

Compounds for genes affiliated with Merrf Syndrome

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Compounds related to Merrf Syndrome according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1rofecoxib44 50 28 1112.8MT-CO2, CPOX
2meloxicam44 1110.7MMP1, CPOX
3diclofenac44 28 50 1112.6MMP1, CPOX
4ibuprofen44 28 50 24 1113.5CPOX, MMP1
5sodium azide449.3CAT, MMP1
6trolox449.3MMP1, CAT
7salicylic acid44 2810.2CAT, CPOX
8celecoxib44 61 28 50 24 1114.2CPOX, MMP1
9betacarotene449.2CAT, MMP1
10peroxynitrite449.1CAT, CPOX
11prostaglandin449.1MT-CO2, MMP1, CPOX
12citrate449.0CPOX, MT-CO2, CAT
13copper44 2410.0CAT, MT-CO2, CPOX
14pge2448.9MT-CO2, MMP1, CPOX
15atp44 289.8CPOX, LONP1, MT-CO2, MT-ND5
16nadh44 24 1110.8CAT, MT-ND5, MT-CO2, CPOX
17indomethacin44 28 61 1111.8CPOX, MMP1, CAT
18pdtc448.7CAT, MMP1
19lactate448.4CPOX, MMP1, MT-CO2, CAT
20oxygen44 249.4CAT, MT-CO2, LONP1, CPOX

GO Terms for genes affiliated with Merrf Syndrome

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Cellular components related to Merrf Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:0057589.1CAT, CPOX

Products for genes affiliated with Merrf Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Merrf Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet