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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 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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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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G 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
JBrowse link
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:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G 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
JBrowse link
G 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
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 chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia ClinVar PMID:28492532 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Pus1 pseudouridine synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD
ClinVar
PMID:28492532 NCBI chr12:51,936,721...51,945,930
Ensembl chr12:51,937,175...51,945,928
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:28492532 NCBI chr11:88,882,615...88,888,377
Ensembl chr11:88,882,616...88,888,377
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 OMIM
ClinVar
PMID:7726239, PMID:14981724, PMID:15108122, PMID:17056637, PMID:23707380, PMID:25227147, PMID:25741868, PMID:28492532 NCBI chr12:51,936,721...51,945,930
Ensembl chr12:51,937,175...51,945,928
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:28492532 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM
ClinVar
PMID:12075011, PMID:20598274, PMID:22504945, PMID:23918765, PMID:24088041, PMID:24344687, PMID:24430573, PMID:25741868, PMID:26633545, PMID:28492532, PMID:30026338 NCBI chr11:88,882,615...88,888,377
Ensembl chr11:88,882,616...88,888,377
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980, PMID:27812026, PMID:29350304 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      MELAS syndrome 17
        MERRF/MELAS Overlap Syndrome 0
        myopathy, lactic acidosis, and sideroblastic anemia + 4
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  myopathy 668
                    mitochondrial myopathy 89
                      mitochondrial encephalomyopathy 51
                        MELAS syndrome 17
                          MERRF/MELAS Overlap Syndrome 0
                          myopathy, lactic acidosis, and sideroblastic anemia + 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.