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Summary Literature (2)
DOID:3687 - MELAS syndrome


Disease Ontology 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.

Synonyms: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES

Xenbase Genes : mt-co1, mt-cyb, nd1, mt-co3, nd5, mt-nd4, nd6

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010789 - MELAS syndrome

OMIM:
OMIM:540000 - MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): mitochondrial encephalomyopathy (is_a)