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Metadata
DOID DOID:3687
Name MELAS syndrome
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.
https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes
Xrefs

ICD10CM:E88.41

MESH:D017241

NCI:C84885

OMIM:540000

SNOMEDCT_US_2018_03_01:39925003

UMLS_CUI:C0162671

Subsets

NCIthesaurus

Synonyms

MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES [EXACT]

Relationships

is_a mitochondrial encephalomyopathy

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