MCID: MRR001
MIFTS: 43

Merrf Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Muscle diseases

Aliases & Classifications for Merrf Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 36MeSH, 65UMLS, 51Orphanet, 24GTR, 21GeneReviews, 22GeneTests, 47Novoseek, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Merrf Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61


Classifications:



External Ids:

Disease Ontology10 DOID:310
ICD1027 E88.42
MeSH36 D017243
NCIt42 C84889
Orphanet51 551
ICD10 via Orphanet28 G71.3
MESH via Orphanet37 D017243
UMLS via Orphanet66 C0162672
UMLS65 C0162672

Summaries for Merrf Syndrome

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NIH Rare Diseases:45 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: Merrf Syndrome, also known as merrf, is related to merrf/melas overlap syndrome and gingivitis, and has symptoms including abnormality of movement, emg abnormality and myopathy. 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 eye, heart and prostate.

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 NBK1520

Related Diseases for Merrf Syndrome

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

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1merrf/melas overlap syndrome12.4
2gingivitis10.4
3hallermann-streiff syndrome10.4
4infertility10.4
5melas syndrome10.4
6digeorge syndrome 210.4MT-TK, MT-TL1
7malignant mixed epithelial mesenchymal tumor of ovary10.3MT-TL1, MT-TS1
8mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.3MT-ND5, MT-TK, MT-TL1
9mitochondrial disorders10.3MT-ND5, MT-TK, MT-TL1
10mertk-related retinitis pigmentosa10.2MT-TH, MT-TK, MT-TL1
11arthrogryposis with oculomotor limitation and electroretinal anomalies10.2MT-RNR1, MT-TS1
12nonsyndromic hearing loss and deafness, autosomal dominant10.1MT-RNR1, MT-TS1
13hiv-110.1
14prostate cancer10.1
15hepatocellular carcinoma10.1
16obesity10.1
17cataract10.1
18diabetic foot ulcers10.1
19fecal incontinence10.1
20osteopetrosis10.1
21lissencephaly10.1
22lymphoma10.1
23imperforate anus10.1
24prostatitis10.1
25cutis laxa10.1
26frontal lobe epilepsy10.1
27colonic pseudo-obstruction10.1
28decubitus ulcer10.1
29rem sleep behavior disorder10.1
30senile cataract10.1
31fatty acid oxidation disorders10.1
32congenital horner syndrome10.1MT-RNR1, MT-TH, MT-TS1
33matsoukas liarikos giannika syndrome10.1MT-TK, MT-TL1
34noonan syndrome with multiple lentigines10.1MT-RNR1, MT-TS1
35alcoholic cardiomyopathy10.0CPOX, MT-CO2, MT-ND5, MT-TL1
36mitochondrial dna depletion syndrome 710.0C10orf2, MT-TL1
37idiopathic juvenile osteoporosis9.9C10orf2, MT-TI, SDHB
38leigh syndrome9.5CPOX, MT-CO2, MT-ND5, MT-TI, MT-TK, MT-TL1
39mitochondrial membrane protein-associated neurodegeneration8.6C10orf2, CPOX, MT-CO2, MT-ND5, MT-TF, MT-TH
40plexopathy8.4C10orf2, CPOX, DARS2, MT-CO2, MT-ND5, MT-TF
41thoracic outlet syndrome7.0C10orf2, 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

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

Drugs & Therapeutics for Merrf Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32360-23-16058
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
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
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
3Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554
4North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940

Search NIH Clinical Center for Merrf Syndrome


Cochrane evidence based reviews: merrf syndrome

Genetic Tests for Merrf Syndrome

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Genetic tests related to Merrf Syndrome:

id Genetic test Affiliating Genes
1 Merrf22 MT-TK

Anatomical Context for Merrf Syndrome

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MalaCards organs/tissues related to Merrf Syndrome:

33
Eye, Heart, Prostate, Smooth muscle, Neutrophil

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
Structural and functional evaluation of macula in a 9-year-old boy with occult macular dystrophy and his affected elder sibling. (27013831)
2016
2
Long-term remission of primary cutaneous neutrophil-rich CD30+ anaplastic large cell lymphoma treated with topical imiquimod. A case report. (25809386)
2015
3
Cauda equina syndrome associated with dural ectasia in chronic anlylosing spondylitis. (25628815)
2014
4
New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome. (22591219)
2013
5
Cyclic vomiting syndrome in adults. (24234235)
2013
6
Melatonin synthesized by T lymphocytes as a ligand of the retinoic acid-related orphan receptor. (21736617)
2011
7
Warfarin use and outcomes in patients with advanced chronic systolic heart failure without atrial fibrillation, prior thromboembolic events, or prosthetic valves. (21185004)
2011
8
The role of email guidance in internet-based cognitive-behavioural self-care treatment for bulimia nervosa. (21394832)
2011
9
Animal science. Rinderpest, deadly for cattle, joins smallpox as a vanquished disease. (20966223)
2010
10
Enhancement of BK(Ca) channel activity induced by hydrogen peroxide: involvement of lipid phosphatase activity of PTEN. (19646416)
2009
11
Transglutaminase 2 is central to induction of the arterial calcification program by smooth muscle cells. (18202319)
2008
12
Chronic prostatitis (CP)/chronic pelvic pain syndrome (CPPS): what do we know? (17695413)
2007
13
Lipid-lowering therapy in high-risk persons. (16845146)
2006
14
Epidermal growth factor receptor-dependent and -independent pathways in hydrogen peroxide-induced mitogen-activated protein kinase activation in cardiomyocytes and heart fibroblasts. (15574683)
2005
15
Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. (16227348)
2005
16
Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. (12760743)
2003
17
Performance of a generic health-related quality of life measure in a clinic population with rheumatic disease. (14558051)
2003
18
Menstrual cycle effects on the neurohumoral and autonomic nervous systems regulating the cardiovascular system. (11932284)
2002
19
Images in cardiology. Endomyocardial fibrosis associated with antiphospholipid syndrome. (10979722)
2000
20
Ectopic trifid ureter causing recurrent acute epididymitis. (9467498)
1998
21
Transfection of primary tumor cells and tumor cell lines with plasmid DNA/lipid complexes. (9570303)
1998
22
Molecular events underlying schistosomiasis-related bladder cancer. (7628866)
1995
23
Contrasting effects of alpha, beta, and gamma interferons on nonspecific suppressor function in multiple sclerosis. (1371908)
1992
24
Oral focal epithelial hyperplasia removed with CO2 laser. (2170540)
1990
25
Splenic abscess on ultrasonography. (3522231)
1986
26
Computed cranial tomography in congenital rubella syndrome. (7103774)
1982
27
Retinal light exposure and cystoid macular edema. (7387520)
1980

Variations for Merrf Syndrome

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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

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Search GEO for disease gene expression data for Merrf Syndrome.

Pathways for genes affiliated with Merrf Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
7.8CARS2, DARS2, MT-TF, MT-TH, MT-TI, MT-TK

GO Terms for genes affiliated with Merrf Syndrome

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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

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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