Combined oxidative phosphorylation defect type 13
ORPHA:319514DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)2
HP:0002151Increased circulating lactate concentration
HP:0200125Mitochondrial respiratory chain defects
Частый (30–79%)12
HP:0000407Sensorineural hearing impairment
HP:0000639Nystagmus
HP:0001266Choreoathetosis
HP:0001290Generalized hypotonia
HP:0001324Muscle weakness
HP:0002421Poor head control
HP:0002451Limb dystonia
HP:0002490Increased CSF lactate
HP:0007069Profound static encephalopathy
HP:0008936Axial hypotonia
HP:0010994Abnormal corpus striatum morphology
HP:0012448Delayed myelination
Периодический (5–29%)19
HP:0001511Intrauterine growth retardation
HP:0002134Abnormality of the basal ganglia
HP:0002310Orofacial dyskinesia
HP:0003273Hip contracture
HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003554Type 2 muscle fiber atrophy
HP:0003803Type 1 muscle fiber predominance
HP:0006466Ankle flexion contracture
HP:0006895Lower limb hypertonia
HP:0011471Gastrostomy tube feeding in infancy
HP:0011968Feeding difficulties
HP:0040204Elevated CSF neopterin level
HP:0000496Abnormality of eye movement
HP:0000519Developmental cataract
HP:0000762Decreased nerve conduction velocity
HP:0000763Sensory neuropathy
HP:0001273Abnormal corpus callosum morphology
HP:0001344Absent speech
HP:0001508Failure to thrive
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)