Disease Browser
Parent Node: Brain Diseases, Metabolic, Inborn (D020739) Parent Node: Mitochondrial Encephalomyopathies (D017237) Parent Node: Myoclonic Epilepsies, Progressive (D020191) ..Starting node MERRF Syndrome (D017243) Child Nodes:
Sister Nodes: ..Amyotrophic Lateral Sclerosis With Polyglucosan Bodies (C565955) ..Epilepsy, Progressive Myoclonic 2B (C564976) ..Epilepsy, Progressive Myoclonic 3 (C567095) ..EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726) ..Lafora Disease (D020192) ..MERRF Syndrome (D017243) 00162 ; ..Myoclonic epilepsy with choreoathetosis (C538427) ..Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia (C580388) ..SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950) ..Unverricht-Lundborg Syndrome (D020194) UMLS . MedGen , OMIM ,ClinVar , CTD
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 00162 ; Genes: Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar m.13042G>A 4540 MT-ND5 Likely pathogenic rs267606898 RCV000010347|RCV000010348|RCV000010349|RCV000854885|RCV002260592 ; Y MONDO: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:53 M 13042 13042 M:g.13042G>A ClinGen:CA120633,OMIM:516005.0008 C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; m.611G>A 4558 MT-TF Pathogenic rs118203886 RCV000010187 ; N MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551 M 611 611 m.611G>A ClinGen:CA340924,OMIM:590070.0002 C0162672 545000 Myoclonus with epilepsy with ragged red fibers; m.4284G>A 4565 MT-TI Conflicting interpretations of pathogenicity rs121434468 RCV000010227|RCV000850716|RCV001838978|RCV002247292 ; N MedGen:C0559758|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MedGen:CN517202|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551 M 4284 4284 M:g.4284G>A ClinGen:CA120571,OMIM:590045.0004 C0559758 Multisystem disorder; NC_012920.1(MT-CYB):m.4296G>A 4565 MT-TI Pathogenic/Likely pathogenic rs1603219393 RCV000850719|RCV002249542 ; N MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551 M 4296 4296 M:g.4296G>A - m.8344A>G 4566 MT-TK Pathogenic rs118192098 RCV000010193|RCV000010192|RCV000010194|RCV000224965|RCV000495310|RCV000850950|RCV001729345 ; Y MONDO: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:0010 M 8344 8344 M:g.8344A>G ClinGen:CA254836,OMIM:590060.0001 C0023264 256000 Leigh syndrome; m.8356T>C 4566 MT-TK Pathogenic rs118192099 RCV000010196|RCV000010195|RCV000850957 ; Y MedGen:C3151970|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550 M 8356 8356 M:g.8356T>C ClinGen:CA120554,OMIM:590060.0002 C3151970 MERRF/MELAS overlap syndrome; m.8361G>A 4566 MT-TK Pathogenic rs118192104 RCV000010202 ; Y MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551 M 8361 8361 m.8361G>A ClinGen:CA340925,OMIM:590060.0007 C0162672 545000 Myoclonus with epilepsy with ragged red fibers; m.8363G>A 4566 MT-TK Pathogenic rs118192100 RCV000010197|RCV000144004|RCV000192053|RCV000850961 ; Y MedGen: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:550 M 8363 8363 M:g.8363G>A ClinGen:CA120555,OMIM:590060.0003 C4016620 Cardiomyopathy and Deafness; m.3256C>T 4567 MT-TL1 Pathogenic rs199474659 RCV000010213|RCV000010214|RCV000850697 ; Y MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551|MedGen:C4017627|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550 M 3256 3256 M:g.3256C>T ClinGen:CA120561,OMIM:590050.0003 C4017627 Diabetes mellitus, noninsulin-dependent, maternally transmitted; m.3271T>C 4567 MT-TL1 Pathogenic rs199474658 RCV000010212|RCV000507161|RCV000763624 ; Y MONDO: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:551 M 3271 3271 M:g.3271T>C ClinGen:CA254839,OMIM:590050.0002 C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; m.3274A>G 4567 MT-TL1 Conflicting interpretations of pathogenicity rs199474666 RCV000010221|RCV000850703|RCV002288480 ; N MedGen:C4016618|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551 M 3274 3274 M:g.3274A>G ClinGen:CA120568,OMIM:590050.0010 C4016618 Neuropsychiatric disorder and early-onset cataract; NC_012920.1(MT-CYB):m.16002T>C 4571 MT-TP Pathogenic/Likely pathogenic rs1603225633 RCV000851169|RCV002249545 ; N MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0010790,MedGen:C0162672,OMIM:545000, Orphanet:551 M 16002 16002 M:g.16002T>C -
MSeqDR Portal Ensembl Gene ID Associated Gene Name LSDB Genes LSDB Variants clinVar hits Description Disease id ENSG00000198786 MT-ND5 1 1 1 mitochondrially encoded NADH dehydrogenase 5 [Source:HGNC Symbol;Acc:7461] 00162 ENSG00000210049 MT-TF 1 1 1 mitochondrially encoded tRNA phenylalanine [Source:HGNC Symbol;Acc:7481] 00162 ENSG00000210176 MT-TH 1 0 0 mitochondrially encoded tRNA histidine [Source:HGNC Symbol;Acc:7487] 00162 ENSG00000210156 MT-TK 1 4 4 mitochondrially encoded tRNA lysine [Source:HGNC Symbol;Acc:7489] 00162 ENSG00000209082 MT-TL1 1 1 3 mitochondrially encoded tRNA leucine 1 (UUA/G) [Source:HGNC Symbol;Acc:7490] 00162 ENSG00000210151 MT-TS1 1 0 0 mitochondrially encoded tRNA serine 1 (UCN) [Source:HGNC Symbol;Acc:7497] 00162 ENSG00000210184 MT-TS2 1 0 0 mitochondrially encoded tRNA serine 2 (AGU/C) [Source:HGNC Symbol;Acc:7498] 00162
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MERRF Syndrome 
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