Mitochondrial DNA-associated Leigh syndrome
ORPHA:255210DiseaseMitochondrial inheritanceChildhood, Infancy
Ассоциированные гены11
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MT-ATP6 | mitochondrially encoded ATP synthase membrane subunit 6 | Disease-causing germline mutation(s) in | gene with protein product | 516060 |
| MT-ND1 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 516000 |
| MT-ND2 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 516001 |
| MT-ND3 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Disease-causing germline mutation(s) in | gene with protein product | 516002 |
| MT-ND4 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Disease-causing germline mutation(s) in | gene with protein product | 516003 |
| MT-ND5 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Disease-causing germline mutation(s) in | gene with protein product | 516005 |
| MT-ND6 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Disease-causing germline mutation(s) in | gene with protein product | 516006 |
| MT-TL1 | mitochondrially encoded tRNA-Leu (UUA/G) 1 | Disease-causing germline mutation(s) in | Non-coding RNA | 590050 |
| MT-TK | mitochondrially encoded tRNA-Lys (AAA/G) | Disease-causing germline mutation(s) in | Non-coding RNA | 590060 |
| MT-TW | mitochondrially encoded tRNA-Trp (UGA/G) | Disease-causing germline mutation(s) in | Non-coding RNA | 590095 |
| MT-TV | mitochondrially encoded tRNA-Val (GUN) | Disease-causing germline mutation(s) in | Non-coding RNA | 590105 |
Фенотипы (HPO)53
Очень частый (80–99%)2
HP:0000816Abnormality of Krebs cycle metabolism
HP:0002490Increased CSF lactate
Частый (30–79%)21
HP:0000580Pigmentary retinopathy
HP:0000597Ophthalmoparesis
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001276Hypertonia
HP:0001324Muscle weakness
HP:0001332Dystonia
HP:0001508Failure to thrive
HP:0002066Gait ataxia
HP:0002069Bilateral tonic-clonic seizure
HP:0002072Chorea
HP:0002123Generalized myoclonic seizure
HP:0002151Increased circulating lactate concentration
HP:0002572Episodic vomiting
HP:0003648Lacticaciduria
HP:0007141Sensorimotor neuropathy
HP:0007183Focal T2 hyperintense basal ganglia lesion
HP:0008947Floppy infant
HP:0011344Severe global developmental delay
HP:0100660Dyskinesia
Периодический (5–29%)28
HP:0002104Apnea
HP:0002240Hepatomegaly
HP:0002376Developmental regression
HP:0002483Bulbar signs
HP:0002883Hyperventilation
HP:0003348Hyperalaninemia
HP:0003481Segmental peripheral demyelination/remyelination
HP:0003737Mitochondrial myopathy
HP:0004885Episodic respiratory distress
HP:0007108Demyelinating peripheral neuropathy
HP:0012469Infantile spasms
HP:0031434Abnormal speech prosody
HP:0031546Cardiac conduction abnormality
HP:0100611Multiple glomerular cysts
HP:0000091Abnormal renal tubule morphology
HP:0000407Sensorineural hearing impairment
HP:0000510Rod-cone dystrophy
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001265Hyporeflexia
HP:0001347Hyperreflexia
HP:0001399Hepatic failure
HP:0001639Hypertrophic cardiomyopathy
HP:0001644Dilated cardiomyopathy
HP:0001945Fever
HP:0002015Dysphagia
HP:0002045Hypothermia
HP:0002094Dyspnea
Очень редкий (1–4%)2
HP:0003200Ragged-red muscle fibers
HP:0003572Low plasma citrulline
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)