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MELAS

ORPHA:550 · Disease · Disorder

HPO 表現型（共 87 項）

Very frequent (99-80%)(13)

  • Abnormal mitochondria in muscle tissueHP:0008316
  • AphasiaHP:0002381
  • Aplasia/Hypoplasia of the cerebral white matterHP:0012429
  • DementiaHP:0000726
  • EEG abnormalityHP:0002353
  • Increased circulating lactate concentrationHP:0002151
  • Lactic acidosisHP:0003128
  • MigraineHP:0002076
  • Muscle weaknessHP:0001324
  • Ragged-red muscle fibersHP:0003200
  • SeizureHP:0001250
  • Stroke-like episodeHP:0002401
  • Widened cerebral subarachnoid spaceHP:0012766

Frequent (79-30%)(26)

  • AnxietyHP:0000739
  • AtaxiaHP:0001251
  • Basal ganglia calcificationHP:0002135
  • Bilateral tonic-clonic seizureHP:0002069
  • DepressionHP:0000716
  • Diabetes mellitusHP:0000819
  • EncephalopathyHP:0001298
  • Fluctuations in consciousnessHP:0007159
  • Focal-onset seizureHP:0007359
  • Gait disturbanceHP:0001288
  • HemiparesisHP:0001269
  • Impaired visuospatial constructive cognitionHP:0010794
  • Increased CSF lactateHP:0002490
  • Increased CSF protein concentrationHP:0002922
  • Memory impairmentHP:0002354
  • MyoclonusHP:0001336
  • MyopathyHP:0003198
  • Peripheral neuropathyHP:0009830
  • PsychosisHP:0000709
  • Recurrent paroxysmal headacheHP:0002331
  • Sensorineural hearing impairmentHP:0000407
  • Short attention spanHP:0000736
  • Short statureHP:0004322
  • Specific learning disabilityHP:0001328
  • Visual lossHP:0000572
  • VomitingHP:0002013

Occasional (29-5%)(45)

  • Abnormal central motor functionHP:0011442
  • Agenesis of corpus callosumHP:0001274
  • AnemiaHP:0001903
  • Bipolar affective disorderHP:0007302
  • Brain atrophyHP:0012444
  • Cardiac conduction abnormalityHP:0031546
  • CardiomyopathyHP:0001638
  • Cerebral cortical atrophyHP:0002120
  • Concentric hypertrophic cardiomyopathyHP:0005157
  • ConstipationHP:0002019
  • DiarrheaHP:0002014
  • Dilated cardiomyopathyHP:0001644
  • Distal peripheral sensory neuropathyHP:0007067
  • Elevated brain lactate level by MRSHP:0012707
  • ErythemaHP:0010783
  • Exercise intoleranceHP:0003546
  • Failure to thriveHP:0001508
  • FeverHP:0001945
  • Focal segmental glomerulosclerosisHP:0000097
  • Gastrointestinal dysmotilityHP:0002579
  • Global developmental delayHP:0001263
  • HypertrichosisHP:0000998
  • Hypertrophic cardiomyopathyHP:0001639
  • Hypoplasia of the corpus callosumHP:0002079
  • Intestinal pseudo-obstructionHP:0004389
  • Mixed demyelinating and axonal polyneuropathyHP:0007327
  • Motor delayHP:0001270
  • NephropathyHP:0000112
  • Optic atrophyHP:0000648
  • Peripheral axonal neuropathyHP:0003477
  • Personality changesHP:0000751
  • Pigmentary retinopathyHP:0000580
  • Progressive external ophthalmoplegiaHP:0000590
  • ProteinuriaHP:0000093
  • Proximal tubulopathyHP:0000114
  • Psychotic mentationHP:0001345
  • Pulmonary arterial hypertensionHP:0002092
  • Recurrent pancreatitisHP:0100027
  • Reduced consciousnessHP:0004372
  • Sensorimotor neuropathyHP:0007141
  • StutteringHP:0025268
  • Type I diabetes mellitusHP:0100651
  • Type II diabetes mellitusHP:0005978
  • VitiligoHP:0001045
  • Wolff-Parkinson-White syndromeHP:0001716

Very rare (<4-1%)(3)

  • Hypogonadotropic hypogonadismHP:0000044
  • HypoparathyroidismHP:0000829
  • HypothyroidismHP:0000821