MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:7824
Name:MERRF Syndrome
Definition:A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)
Alternative IDs:DO:DOID:310|OMIM:545000
ParentIDs:MESH:D017237|MESH:D020191|MESH:D020739
TreeNumbers:C05.651.460.620.530 |C10.228.140.163.100.545 |C10.228.140.490.375.130.650.700 |C10.228.140.490.493.063.650.700 |C10.668.491.500.500.550 |C16.320.565.189.545 |C18.452.132.100.545 |C18.452.648.189.545 |C18.452.660.560.620.530
Synonyms:Fukuhara Disease |Fukuhara Syndrome |MERRF |MERRF SYNDROME |Myoclonic Epilepsy and Ragged Red Fibers |Myoclonic Epilepsy Associated with Ragged Red Fibers |Myoclonic Epilepsy Associated with Ragged-Red Fibers |Myoclonic Epilepsy with Ragged Red Fibers |Myoclonic
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: D017243
MeSH: D017243
OMIM: 545000;
MSeqDR LSDB: 00162;  
Genes:
Phenotypes
1 HP:0001427Mitochondrial inheritance
2 HP:0001251Ataxia
3 HP:0002123Generalized myoclonic seizures
4 HP:0002151Increased serum lactate
5 HP:0003542Increased serum pyruvate
6 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
7 HP:0001336Myoclonus
NAMDC:  Myoclonus
8 HP:0003198Myopathy
NAMDC:  Myopathy
9 HP:0003200Ragged-red muscle fibers
10 HP:0001250Seizures
NAMDC:  Seizures
11 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
12 HP:0001257Spasticity
NAMDC:  Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
m.13042G>A4540MT-ND5Likely pathogenicrs267606898RCV000010347|RCV000010348|RCV000010349|RCV000854885|RCV002260592; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551|MedGen:C1838951|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:53M1304213042M:g.13042G>AClinGen:CA120633,OMIM:516005.0008C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.611G>A4558MT-TFPathogenicrs118203886RCV000010187; NMONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551M611611m.611G>AClinGen:CA340924,OMIM:590070.0002C0162672 545000 Myoclonus with epilepsy with ragged red fibers;
m.4284G>A4565MT-TIConflicting interpretations of pathogenicityrs121434468RCV000010227|RCV000850716|RCV001838978|RCV002247292; NMedGen:C0559758|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551M42844284M:g.4284G>AClinGen:CA120571,OMIM:590045.0004C0559758 Multisystem disorder;
NC_012920.1(MT-CYB):m.4296G>A4565MT-TIPathogenic/Likely pathogenicrs1603219393RCV000850719|RCV002249542; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551M42964296M:g.4296G>A-
m.8344A>G4566MT-TKPathogenicrs118192098RCV000010193|RCV000010192|RCV000010194|RCV000224965|RCV000495310|RCV000850950|RCV001729345; YMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551|MONDO:MONDO:0010796,MedGen:C1838867,OMIM:556500|MedGen:CN517202|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0010M83448344M:g.8344A>GClinGen:CA254836,OMIM:590060.0001C0023264 256000 Leigh syndrome;
m.8356T>C4566MT-TKPathogenicrs118192099RCV000010196|RCV000010195|RCV000850957; YMedGen:C3151970|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83568356M:g.8356T>CClinGen:CA120554,OMIM:590060.0002C3151970 MERRF/MELAS overlap syndrome;
m.8361G>A4566MT-TKPathogenicrs118192104RCV000010202; YMONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551M83618361m.8361G>AClinGen:CA340925,OMIM:590060.0007C0162672 545000 Myoclonus with epilepsy with ragged red fibers;
m.8363G>A4566MT-TKPathogenicrs118192100RCV000010197|RCV000144004|RCV000192053|RCV000850961; YMedGen:C4016620|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M83638363M:g.8363G>AClinGen:CA120555,OMIM:590060.0003C4016620 Cardiomyopathy and Deafness;
m.3256C>T4567MT-TL1Pathogenicrs199474659RCV000010213|RCV000010214|RCV000850697; YMONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551|MedGen:C4017627|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550M32563256M:g.3256C>TClinGen:CA120561,OMIM:590050.0003C4017627 Diabetes mellitus, noninsulin-dependent, maternally transmitted;
m.3271T>C4567MT-TL1Pathogenicrs199474658RCV000010212|RCV000507161|RCV000763624; YMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN169374|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550; MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551M32713271M:g.3271T>CClinGen:CA254839,OMIM:590050.0002C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.3274A>G4567MT-TL1Conflicting interpretations of pathogenicityrs199474666RCV000010221|RCV000850703|RCV002288480; NMedGen:C4016618|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551M32743274M:g.3274A>GClinGen:CA120568,OMIM:590050.0010C4016618 Neuropsychiatric disorder and early-onset cataract;
NC_012920.1(MT-CYB):m.16002T>C4571MT-TPPathogenic/Likely pathogenicrs1603225633RCV000851169|RCV002249545; NMONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551M1600216002M:g.16002T>C-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000198786 MSeqDR Search EnsemblMT-ND5111mitochondrially encoded NADH dehydrogenase 5 [Source:HGNC Symbol;Acc:7461]00162
ENSG00000210049 MSeqDR Search EnsemblMT-TF111mitochondrially encoded tRNA phenylalanine [Source:HGNC Symbol;Acc:7481]00162
ENSG00000210176 MSeqDR Search EnsemblMT-TH100mitochondrially encoded tRNA histidine [Source:HGNC Symbol;Acc:7487]00162
ENSG00000210156 MSeqDR Search EnsemblMT-TK144mitochondrially encoded tRNA lysine [Source:HGNC Symbol;Acc:7489]00162
ENSG00000209082 MSeqDR Search EnsemblMT-TL1113mitochondrially encoded tRNA leucine 1 (UUA/G) [Source:HGNC Symbol;Acc:7490]00162
ENSG00000210151 MSeqDR Search EnsemblMT-TS1100mitochondrially encoded tRNA serine 1 (UCN) [Source:HGNC Symbol;Acc:7497]00162
ENSG00000210184 MSeqDR Search EnsemblMT-TS2100mitochondrially encoded tRNA serine 2 (AGU/C) [Source:HGNC Symbol;Acc:7498]00162

*Click on gene and variants to check details. Or view all variants in new page