Summary Literature (0)

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,

Echinobase Genes : mt-nd1, mt-co1, mt-co2, mt-co3, mt-nd5, ND6, mt-cyb


OMIM:

MIM: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