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MELAS syndrome

rare

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

Identifiers
MONDO:0010789 OMIM:540000Orphanet:550
Part of
Mitochondrial encephalomyopathySyndromic disease
Also known as
MELAS · mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes · mitochondrial encephalomyopathy, lactic acidosis and stroke · mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes · mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Subtypes

All diseases Rare only
Disease Subtypes
MELAS syndrome caused by mutation in MTND1
MELAS syndrome caused by mutation in MTND5
MELAS syndrome caused by mutation in MTND6
MELAS syndrome caused by mutation in MTTC
MELAS syndrome caused by mutation in MTTH
MELAS syndrome caused by mutation in MTTK
MELAS syndrome caused by mutation in MTTL1
MELAS syndrome caused by mutation in MTTQ
MELAS syndrome caused by mutation in MTTS1
MELAS syndrome caused by mutation in MTTS2

Projects

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