Combined oxidative phosphorylation defect type 7
ORPHA:254930DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)42
Очень частый (80–99%)3
HP:0000505Visual impairment
HP:0000648Optic atrophy
HP:0003202Skeletal muscle atrophy
Частый (30–79%)15
HP:0000602Ophthalmoplegia
HP:0001123Visual field defect
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001508Failure to thrive
HP:0001761Pes cavus
HP:0002313Spastic paraparesis
HP:0002395Lower limb hyperreflexia
HP:0002936Distal sensory impairment
HP:0003477Peripheral axonal neuropathy
HP:0003693Distal amyotrophy
HP:0007256Abnormal pyramidal sign
HP:0007340Lower limb muscle weakness
HP:0031629Impaired tandem gait
HP:0100543Cognitive impairment
Периодический (5–29%)24
HP:0000508Ptosis
HP:0000639Nystagmus
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001283Bulbar palsy
HP:0001284Areflexia
HP:0001349Facial diplegia
HP:0002079Hypoplasia of the corpus callosum
HP:0002376Developmental regression
HP:0002500Abnormal cerebral white matter morphology
HP:0002540Inability to walk
HP:0002590Paralytic ileus
HP:0002943Thoracic scoliosis
HP:0003380Decreased number of peripheral myelinated nerve fibers
HP:0003484Upper limb muscle weakness
HP:0005216Impaired mastication
HP:0007641Dyschromatopsia
HP:0008947Floppy infant
HP:0011471Gastrostomy tube feeding in infancy
HP:0012696Abnormal thalamic MRI signal intensity
HP:0012707Elevated brain lactate level by MRS
HP:0012747Abnormal brainstem MRI signal intensity
HP:0020049Exodeviation
HP:0200136Oral-pharyngeal dysphagia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)