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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
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Accession:DOID:3687 term browser browse the term
Definition:A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. (DO)
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;   mitochondrial myopathy-encephalopathy-lactic acidosis-stroke
 narrow_synonym: PARKINSONISM/MELAS OVERLAP SYNDROME
 primary_id: MESH:D017241
 alt_id: OMIM:540000
 xref: EFO:0000192;   ICD10CM:E88.41;   MONDO:0010789;   NCI:C84885
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
MELAS syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G 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:9,120...9,800
Ensembl chr MT:9,120...9,800 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 More... NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:7496173 PMID:15823923 PMID:18587274 PMID:25741868 NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:22638077 PMID:32906214 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:15466014 PMID:15972314 PMID:16849371 PMID:16969869 PMID:17535832 More... NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876 		JBrowse link
G 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:11,359...12,736
Ensembl chr MT:11,359...12,736 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:9299505 PMID:10589546 PMID:11102991 PMID:11198278 PMID:12509858 More... NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:11781695 NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:22499341 NCBI chr15:109,413,726...109,451,813
Ensembl chr15:109,409,771...109,451,676 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: MELAS syndrome ClinVar PMID:17436221 PMID:18546365 PMID:19010300 PMID:19364868 PMID:19762913 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      MELAS syndrome 15
        MERRF/MELAS Overlap Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        peripheral nervous system disease 3991
          neuropathy 3800
            neuromuscular disease 2980
              muscular disease 2091
                muscle tissue disease 1265
                  myopathy 980
                    mitochondrial myopathy 121
                      mitochondrial encephalomyopathy 78
                        MELAS syndrome 15
                          MERRF/MELAS Overlap Syndrome 0
paths to the root