MERRF
MCID: MRR001
MIFTS: 52

Merrf Syndrome (MERRF) malady

Neuronal diseases, Eye diseases, Metabolic diseases categories

Summaries for Merrf Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Merrf Syndrome, also known as MERRF, is related to melas syndrome and myopathy, and has symptoms including optic nerve anomaly/optic atrophy/anomaly of the papilla, short stature/dwarfism/nanism and intellectual deficit/mental/psychomotor retardation/learning disability. 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 muscles and the 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:63 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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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

merrf syndrome 8 42 21 48 46 60
merrf 19 42 20 21 44
fukuhara syndrome 8 42 48
myoclonic epilepsy associated with ragged-red fibers 42 21
myoclonus with epilepsy with ragged red fibers 42 22
myoencephalopathy ragged-red fiber disease 42 21
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
myoclonus epilepsy and ragged red fibers 8
myoclonic epilepsy - ragged red fibers 8
fukuhara disease 21


External Ids:

Disease Ontology8 DOID:310
OMIM46 545000
NCIt39 C84889
MESH via Orphanet35 D017243
SNOMED-CT via Orphanet57 230426003, 68448003, 57254004
ICD10 via Orphanet26 G71.3
UMLS via Orphanet61 C0162672

Related Diseases for Merrf Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Merrf Syndrome:



Diseases related to merrf syndrome

Clinical Features for Merrf Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

545000

Clinical synopsis from OMIM:

545000

Symptoms:

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

Drugs & Therapeutics for Merrf Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Merrf Syndrome

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20GeneTests, 22GTR
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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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32MalaCards
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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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50PubMed
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Articles related to Merrf Syndrome:

(show all 34)
idTitleAuthorsYear
1
MERRF/MELAS overlap syndrome due to the m.3291T>C mutation. (24338029)
2013
2
Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery. (24199594)
2013
3
Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome. (20411357)
2010
4
Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome). (20976001)
2010
5
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. (20610441)
2010
6
MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. (20190488)
2010
7
Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report. (18412280)
2008
8
MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. (17275787)
2007
9
Antimyoclonic effect of levetiracetam in MERRF syndrome. (16414077)
2006
10
High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome. (15965049)
2005
11
Upregulation of matrix metalloproteinase 1 and disruption of mitochondrial network in skin fibroblasts of patients with MERRF syndrome. (15965045)
2005
12
Anesthetic management of a patient with MERRF syndrome. (15649170)
2005
13
Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. (15317755)
2004
14
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. (15184630)
2004
15
A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. (12868503)
2003
16
Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome. (12876264)
2003
17
MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation. (12005255)
2002
18
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
19
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
20
Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA. (8559168)
1996
21
MERRF syndrome with overwhelming lactic acidosis. (8652018)
1996
22
Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome. (8622733)
1996
23
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. (8676159)
1996
24
A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. (7669057)
1995
25
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. (7647790)
1995
26
Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome. (7606176)
1995
27
Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas. (7603509)
1995
28
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene. (8264702)
1994
29
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. (8069654)
1993
30
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
31
Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome. (1300181)
1992
32
Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. (1463006)
1992
33
Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome. (1905454)
1991
34
A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. (1910259)
1991

Genetic Variations for Merrf Syndrome

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Expression for genes affiliated with Merrf Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome, 29KEGG
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Pathways related to Merrf Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.4MT-TS2, MT-TH, MT-TK, MT-TL1, MT-TP, MT-TQ

Compounds for genes affiliated with Merrf Syndrome

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Merrf Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rofecoxib44 49 28 1112.8CPOX, MT-CO2
2meloxicam44 1110.7CPOX, MMP1
3sodium azide449.3MMP1, CAT
4trolox449.2MMP1, CAT
5citrate449.0CAT, MT-CO2, CPOX
6prostaglandin448.9MT-CO2, MMP1, CPOX
7copper44 249.9CAT, MT-CO2, CPOX
8nadh44 11 2410.9CPOX, MT-ND5, MT-CO2, CAT
9atp44 289.3CPOX, SPTAN1, MT-ND5, MT-CO2, LONP1
10lactate448.2CPOX, MMP1, MT-CO2, CAT

GO Terms for genes affiliated with Merrf Syndrome

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Products for genes affiliated with Merrf Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet