RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: MELAS syndrome
Accession: DOID:3687
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Definition: A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)
Synonyms: exact_synonym: JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE; MELAS; Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes; Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes; Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode; Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
narrow_synonym: PARKINSONISM/MELAS OVERLAP SYNDROME
primary_id: MESH:D017241 ; RDO:0001537
alt_id: OMIM:540000
xref: ICD10CM:E88.41 ; NCI:C84885
For additional species annotation, visit the
Alliance of Genome Resources .
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
ClinVar
PMID:25037980 PMID:27812026 PMID:29350304
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD ClinVar
PMID:127819 PMID:6213205 PMID:7987332 PMID:8019558 PMID:8572257 PMID:9450881 PMID:9742104 PMID:11069477 PMID:11175301 PMID:20301595 PMID:31965079
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Mt-co2
mitochondrially encoded cytochrome c oxidase II
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Mt-co3
mitochondrially encoded cytochrome c oxidase III
ISO
DNA:mutation:exon:m.9957T>C (F251L)(human) CTD Direct Evidence: marker/mechanism
CTD
PMID:18587274
RGD:5491184
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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Mt-cyb
mitochondrially encoded cytochrome b
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:snps:cds:m.3697G>A, m.3946G>A, m.3949T>C (human) ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15466014 PMID:15972314 PMID:16849371 PMID:16969869 PMID:17535832 PMID:17562939 PMID:18504678 PMID:18590963 PMID:18977334 PMID:21364701 PMID:24830958 , PMID:15466014
RGD:5490235
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Mt-nd4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
ClinVar
PMID:1323207 PMID:3395302 PMID:8213827
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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Mt-nd5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
ISO
DNA:mutations:exons:p. D393N, M237T (human) ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke CTD Direct Evidence: marker/mechanism DNA:mutation:exon:m.13513G>A (D393N)(human) DNA:mutation:exon:m.13849A>C (N505H)(human)
ClinVar CTD
PMID:9299505 PMID:10589546 PMID:12509858 PMID:12624137 PMID:12796552 PMID:14520659 PMID:14730434 PMID:15576045 PMID:15767514 PMID:16306525 PMID:16816025 PMID:17400793 PMID:18332249 PMID:18977334 PMID:22249460 PMID:22577219 PMID:25741868 PMID:26894521 , PMID:21850008 , PMID:10589546 , PMID:18587274
RGD:5491173 , RGD:5507825 , RGD:5491184
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
CTD ClinVar
PMID:11781695
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Ndufs1
NADH:ubiquinone oxidoreductase core subunit S1
ISO
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
ClinVar
PMID:22499341
NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11907800
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11907800
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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