Combined oxidative phosphorylation defect type 23
ORPHA:444013DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)2
HP:0001639Hypertrophic cardiomyopathy
HP:0003128Lactic acidosis
Частый (30–79%)2
HP:0000707Abnormality of the nervous system
HP:0008947Floppy infant
Периодический (5–29%)23
HP:0000505Visual impairment
HP:0000961Cyanosis
HP:0001250Seizure
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001635Congestive heart failure
HP:0001667Right ventricular hypertrophy
HP:0001712Left ventricular hypertrophy
HP:0001716Wolff-Parkinson-White syndrome
HP:0002415Leukodystrophy
HP:0002878Respiratory failure
HP:0003388Easy fatigability
HP:0008347Decreased activity of mitochondrial complex IV
HP:0008872Feeding difficulties in infancy
HP:0010307Stridor
HP:0011923Decreased activity of mitochondrial complex I
HP:0012666Severely reduced ejection fraction
HP:0012696Abnormal thalamic MRI signal intensity
HP:0012747Abnormal brainstem MRI signal intensity
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0012763Paroxysmal dyspnea
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | 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)