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GENATLAS PHENOTYPE
last update : 18-05-2011
Symbol MELAS
Location mt
HGNC id 7008
Name mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome
Corresponding gene MT-ND1 , MT-ND4 , MT-ND5 , MT-TL1 , MT-CO2 , MT-TS1
Main clinical features
  • lactic acidosis, stroke-like episodes, often associated to pigmentary retinopathy, episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness
    • Genetic determination mitochondrial
    Related entries . including hypertrophic cardiomyopathy, with diffuse atrophy of cortex, polymicrogyria, gliosis of the white matter and in any cases isolated cerebellar ataxia
    Function/system disorder
    Type disease
    Gene product
    Name . mitochondrial tR-L (3243nt, 3256nt, 3260nt, 3271nt, 12315nt, 15015nt, 15422nt), tR-I (4320nt), +R-S (7512nt) ; ND5 (13513 nt, A12770G), A13084G ; ND4 (A11084G) ; MTTL1 (A3243G mutation, A3302G mutation ) ; MTND1 (E214K) or (Y215H), situated in a matrix-side loop, which appears to be highly sensitive to structural perturbations
    Remark(s)
    Genotype/Phenotype correlations (C3287A) in the TpsiC loop of tRNA(Leu(UUR)), associated to mitochondrial encephalomyopathy and moderate retinal dysfunction