Combined oxidative phosphorylation defect type 29
ORPHA:478029DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)22
Очень частый (80–99%)22
HP:0000488Retinopathy
HP:0001138Optic neuropathy
HP:0002069Bilateral tonic-clonic seizure
HP:0002151Increased circulating lactate concentration
HP:0002180Neurodegeneration
HP:0002283Global brain atrophy
HP:0002370Poor coordination
HP:0002416Subependymal cysts
HP:0002490Increased CSF lactate
HP:0002579Gastrointestinal dysmotility
HP:0002922Increased CSF protein concentration
HP:0003739Myoclonic spasms
HP:0003808Abnormal muscle tone
HP:0011344Severe global developmental delay
HP:0011451Congenital microcephaly
HP:0011923Decreased activity of mitochondrial complex I
HP:0011924Decreased activity of mitochondrial complex III
HP:0012332Abnormal autonomic nervous system physiology
HP:0012448Delayed myelination
HP:0030884Gastrojejunal tube feeding in infancy
HP:0040078Axonal degeneration
HP:0100275Diffuse cerebellar atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | 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)