Combined oxidative phosphorylation defect type 27
ORPHA:477774DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)29
Частый (30–79%)17
HP:0000365Hearing impairment
HP:0000529Progressive visual loss
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002123Generalized myoclonic seizure
HP:0002133Status epilepticus
HP:0002151Increased circulating lactate concentration
HP:0002273Tetraparesis
HP:0002376Developmental regression
HP:0002500Abnormal cerebral white matter morphology
HP:0002506Diffuse cerebral atrophy
HP:0003200Ragged-red muscle fibers
HP:0008347Decreased activity of mitochondrial complex IV
HP:0011923Decreased activity of mitochondrial complex I
HP:0011924Decreased activity of mitochondrial complex III
HP:0031165Multifocal seizures
HP:0200134Epileptic encephalopathy
Периодический (5–29%)12
HP:0000729Autistic behavior
HP:0001344Absent speech
HP:0001790Nonimmune hydrops fetalis
HP:0002015Dysphagia
HP:0002079Hypoplasia of the corpus callosum
HP:0004305Involuntary movements
HP:0007351Upper limb postural tremor
HP:0010853EEG with periodic lateralized epileptiform discharges
HP:0012531Pain
HP:0025517Hypoplastic hippocampus
HP:0040288Nasogastric tube feeding
HP:0100275Diffuse cerebellar atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)