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Leigh syndrome

ORPHA:506DiseaseAutosomal recessive, Mitochondrial inheritance, X-linked recessiveAll ages

Ассоциированные гены (1)

IARS2
isoleucyl-tRNA synthetase 2, mitochondrial
Disease-causing germline mutation(s) in
OMIM: 612801

Фенотипы (98)

Очень частый (80–99%) — 7
HP:0002151Increased circulating lactate concentration
HP:0002490Increased CSF lactate
HP:0003128Lactic acidosis
HP:0003648Lacticaciduria
HP:0008947Floppy infant
HP:0012379Abnormal enzyme/coenzyme activity
HP:0100022Abnormality of movement
Частый (30–79%) — 30
HP:0000407Sensorineural hearing impairment
HP:0000587Abnormal optic nerve morphology
HP:0000602Ophthalmoplegia
HP:0000648Optic atrophy
HP:0000998Hypertrichosis
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001639Hypertrophic cardiomyopathy
HP:0002171Gliosis
HP:0002344Progressive neurologic deterioration
HP:0002376Developmental regression
HP:0002415Leukodystrophy
HP:0002493Upper motor neuron dysfunction
HP:0002928Decreased activity of the pyruvate dehydrogenase complex
HP:0004305Involuntary movements
HP:0006943Diffuse spongiform leukoencephalopathy
HP:0007183Focal T2 hyperintense basal ganglia lesion
HP:0008336Complex organic aciduria
HP:0008972Decreased activity of mitochondrial respiratory chain
HP:0011923Decreased activity of mitochondrial complex I
HP:0011968Feeding difficulties
HP:0012696Abnormal thalamic MRI signal intensity
HP:0012707Elevated brain lactate level by MRS
HP:0012747Abnormal brainstem MRI signal intensity
HP:0012748Focal T2 hyperintense brainstem lesion
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0031691Severe viral infection
HP:0100321Abnormality of the dentate nucleus
HP:0410263Brain imaging abnormality
Периодический (5–29%) — 41
HP:0000508Ptosis
HP:0000639Nystagmus
HP:0000924Abnormality of the skeletal system
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001264Spastic diplegia
HP:0001266Choreoathetosis
HP:0001274Agenesis of corpus callosum
HP:0001324Muscle weakness
HP:0001332Dystonia
HP:0001399Hepatic failure
HP:0001635Congestive heart failure
HP:0001903Anemia
HP:0001943Hypoglycemia
HP:0001993Ketoacidosis
HP:0002015Dysphagia
HP:0002071Abnormality of extrapyramidal motor function
HP:0002072Chorea
HP:0002079Hypoplasia of the corpus callosum
HP:0002305Athetosis
HP:0002460Distal muscle weakness
HP:0002487Hyperkinetic movements
HP:0002521Hypsarrhythmia
HP:0002542Olivopontocerebellar atrophy
HP:0002793Abnormal pattern of respiration
HP:0002828Multiple joint contractures
HP:0002878Respiratory failure
HP:0002909Generalized aminoaciduria
HP:0003198Myopathy
HP:0003202Skeletal muscle atrophy
HP:0003219Ethylmalonic aciduria
HP:0003348Hyperalaninemia
HP:0003390Sensory axonal neuropathy
HP:00035353-Methylglutaconic aciduria
HP:0008347Decreased activity of mitochondrial complex IV
HP:0009830Peripheral neuropathy
HP:0011924Decreased activity of mitochondrial complex III
HP:0012120Methylmalonic aciduria
HP:0200147Neuronal loss in basal ganglia
HP:0410145Decreased biotinidase activity
Очень редкий (1–4%) — 20
HP:0000100Nephrotic syndrome
HP:0000124Renal tubular dysfunction
HP:0000348High forehead
HP:0000400Macrotia
HP:0000518Cataract
HP:0000964Eczematoid dermatitis
HP:0001272Cerebellar atrophy
HP:0001511Intrauterine growth retardation
HP:0001596Alopecia
HP:0001629Ventricular septal defect
HP:0001875Decreased total neutrophil count
HP:0001947Renal tubular acidosis
HP:0001999Abnormal facial shape
HP:0002133Status epilepticus
HP:0002579Gastrointestinal dysmotility
HP:0008314Decreased activity of mitochondrial complex II
HP:0011335Frontal hirsutism
HP:0012469Infantile spasms
HP:0040197Encephalomalacia
HP:0100660Dyskinesia

Эпидемиология (4)

Prevalence at birth
1-9 / 100 000
Europe
Annual incidence
1-9 / 100 000
Australia
Point prevalence
Unknown
Worldwide
Point prevalence
1-9 / 100 000
Europe

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы

OrphanetOMIMOpen TargetsClinicalTrials