MCID: MRR001
MIFTS: 48

Merrf Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Muscle diseases categories

Aliases & Classifications for Merrf Syndrome

About this section
Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 65UMLS, 36MeSH, 51Orphanet, 21GeneReviews, 22GeneTests, 47Novoseek, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Merrf Syndrome:

Name: Merrf Syndrome 10 45 23 12 65 36
Merrf 21 45 22 23 47 51
Myoclonic Epilepsy Associated with Ragged-Red Fibers 45 22 23
Fukuhara Syndrome 10 45 51
Myoclonus with Epilepsy with Ragged Red Fibers 45 24
Myoencephalopathy Ragged-Red Fiber Disease 45 23
Myoclonic Epilepsy Associated with Ragged Red Fibers 21
 
Myoclonus Epilepsy Associated with Ragged-Red Fibers 51
Myoclonus with Epilepsy and with Ragged Red Fibers 10
Myoclonic Epilepsy with Ragged-Red Fibers 23
Myoclonus Epilepsy and Ragged Red Fibers 10
Myoclonic Epilepsy - Ragged Red Fibers 10
Fukuhara Disease 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
merrf:
Inheritance: Mitochondrial inheritance; Age of onset: Childhood


External Ids:

Disease Ontology10 DOID:310
NCIt42 C84889
Orphanet51 551
ICD10 via Orphanet28 G71.3
MESH via Orphanet37 D017243
UMLS via Orphanet66 C0162672

Summaries for Merrf Syndrome

About this section
NIH Rare Diseases:45 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 merrf/melas overlap syndrome and myoclonus, and has symptoms including sensorineural hearing impairment, multiple lipomas and incoordination. An important gene associated with Merrf Syndrome is MT-TK (Mitochondrially Encoded TRNA Lysine), and among its related pathways is tRNA Aminoacylation. Affiliated tissues include testes, eye and skin.

Genetics Home Reference:23 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:68 MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease. It is... more...

GeneReviews summary for merrf

Related Diseases for Merrf Syndrome

About this section

Diseases related to Merrf Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1merrf/melas overlap syndrome10.5
2myoclonus10.5
3myoclonus epilepsy10.5
4encephalomyopathy10.4
5lipoma10.3
6mitochondrial encephalomyopathy10.3
7digeorge syndrome 210.3MT-TK, MT-TL1
8malignant mixed epithelial mesenchymal tumor of ovary10.2MT-TL1, MT-TS1
9maternally inherited leigh syndrome10.2MT-TK, MT-TL1
10matsoukas liarikos giannika syndrome10.2MT-ND5, MT-TK, MT-TL1
11mitochondrial disorders10.2MT-ND5, MT-TK, MT-TL1
12mitochondrial metabolism disease10.2MT-ND5, MT-TK, MT-TL1
13mertk-related retinitis pigmentosa10.2MT-TH, MT-TK, MT-TL1
14arthrogryposis with oculomotor limitation and electroretinal anomalies10.2MT-RNR1, MT-TS1
15myopathy10.2
16noonan syndrome with multiple lentigines10.2MT-RNR1, MT-TS1
17toxic shock syndrome10.2MT-TK, SDHB
18nonsyndromic hearing loss and deafness, autosomal dominant10.1MT-RNR1, MT-TS1
19lymphadenitis10.1MMP1, SDHB
20indeterminate leprosy10.1MT-TL1, MT-TS2
21cerebellar ataxia10.1
22melas syndrome10.1
23neuronitis10.1
24multiple symmetric lipomatosis10.1
25multiple symmetrical lipomatosis10.1
26cervicitis10.1
27lactic acidosis10.1
28lipomatosis10.1
29ataxia10.1
30kearns-sayre syndrome10.0
31mood disorder10.0
32progressive myoclonus epilepsy10.0
33sideroblastic anemia10.0
34spinocerebellar degeneration10.0
35infantile histiocytoid cardiomyopathy10.0
36cardiomyopathy10.0
37acquired idiopathic sideroblastic anemia10.0
38chronic pulmonary heart disease10.0C10orf2, MT-TI, MT-TK
39congenital horner syndrome10.0MT-RNR1, MT-TH, MT-TI, MT-TS1
40ohdo syndrome10.0C10orf2, MT-TK
41microphthalmia, isolated 310.0CAT, CPOX
42infant gynecomastia9.8CPOX, MT-CO2, MT-ND5, MT-RNR1, MT-TK, MT-TL1
43leigh syndrome9.7CPOX, MT-CO2, MT-ND5, MT-TI, MT-TK, MT-TL1
44pinta disease9.4CPOX, MT-CO2, MT-ND5, MT-TF, MT-TH, MT-TK
45mitochondrial membrane protein-associated neurodegeneration9.1C10orf2, CPOX, MT-CO2, MT-ND5, MT-TF, MT-TH
46atypical follicular adenoma8.1C10orf2, CARS2, CAT, CPOX, DARS2, LONP1

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



Diseases related to merrf syndrome

Symptoms for Merrf Syndrome

About this section

Symptoms:

 51 (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 21)
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 mitochondrial inheritance HP:0001427
17 generalized myoclonic seizures HP:0002123
18 increased serum lactate HP:0002151
19 myopathy HP:0003198
20 ragged-red muscle fibers HP:0003200
21 increased serum pyruvate HP:0003542

Drugs & Therapeutics for Merrf Syndrome

About this section

Drugs for Merrf Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32260-23-16058
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]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
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
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
3North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940
4Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554

Search NIH Clinical Center for Merrf Syndrome


Cochrane evidence based reviews: MERRF Syndrome

Genetic Tests for Merrf Syndrome

About this section

Genetic tests related to Merrf Syndrome:

id Genetic test Affiliating Genes
1 Merrf22 MT-TK
2 Myoclonus with Epilepsy with Ragged Red Fibers24

Anatomical Context for Merrf Syndrome

About this section

MalaCards organs/tissues related to Merrf Syndrome:

33
Testes, Eye, Skin

Animal Models for Merrf Syndrome or affiliated genes

About this section

Publications for Merrf Syndrome

About this section

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

About this section

Clinvar genetic disease variations for Merrf Syndrome:

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 Merrf Syndrome

About this section
Search GEO for disease gene expression data for Merrf Syndrome.

Pathways for genes affiliated with Merrf Syndrome

About this section

Pathways related to Merrf Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
7.7CARS2, DARS2, MT-TF, MT-TH, MT-TI, MT-TK

GO Terms for genes affiliated with Merrf Syndrome

About this section

Cellular components related to Merrf Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057439.2CPOX, MT-CO2, MT-ND5, SDHB
2mitochondrial matrixGO:00057598.7C10orf2, CARS2, DARS2, LONP1
3mitochondrionGO:00057397.1C10orf2, CAT, CPOX, DARS2, LONP1, MT-CO2

Biological processes related to Merrf Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1aerobic respirationGO:000906010.0CAT, SDHB
2respiratory electron transport chainGO:00229049.6MT-CO2, MT-ND5, SDHB
3response to hypoxiaGO:00016669.6CAT, LONP1, MT-ND5
4cellular metabolic processGO:00442379.5MT-CO2, MT-ND5, SDHB
5response to lead ionGO:00102889.4CAT, CPOX

Molecular functions related to Merrf Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1aminoacyl-tRNA ligase activityGO:00048129.7CARS2, DARS2

Sources for Merrf Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet