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MELAS syndrome

Disease Summary
Associated Targets (13)
Tclin

6

Tchem

4

Tbio

3


GARD Rare
Mondo Description 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.
Uniprot Description Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0010789:  MELAS syndrome
GARD:0007009: 
ICD10:E88.41: 
MESH:D017241: 
NCIT:C84885: 
Orphanet:550: 
SCTID:39925003: 
UMLS:C0162671: