Combined oxidative phosphorylation defect type 39
ORPHA:565624DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)52
Частый (30–79%)19
HP:0000543Optic disc pallor
HP:0000750Delayed speech and language development
HP:0000817Reduced eye contact
HP:0001273Abnormal corpus callosum morphology
HP:0001317Abnormal cerebellum morphology
HP:0001321Cerebellar hypoplasia
HP:0001344Absent speech
HP:0001662Bradycardia
HP:0002421Poor head control
HP:0002490Increased CSF lactate
HP:0002500Abnormal cerebral white matter morphology
HP:0002505Loss of ambulation
HP:0007321Deep white matter hypodensities
HP:0008763No social interaction
HP:0008872Feeding difficulties in infancy
HP:0008936Axial hypotonia
HP:0011344Severe global developmental delay
HP:0012379Abnormal enzyme/coenzyme activity
HP:0030890Hyperintensity of cerebral white matter on MRI
Периодический (5–29%)33
HP:0002650Scoliosis
HP:0003394Muscle spasm
HP:0003487Babinski sign
HP:0004305Involuntary movements
HP:0005745Congenital foot contractures
HP:0006956Dilation of lateral ventricles
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0007371Corpus callosum atrophy
HP:0011448Ankle clonus
HP:0011470Nasogastric tube feeding in infancy
HP:0012428Prominent calcaneus
HP:0030051Tip-toe gait
HP:0031959Leg dystonia
HP:0000028Cryptorchidism
HP:0000194Open mouth
HP:0000252Microcephaly
HP:0000762Decreased nerve conduction velocity
HP:0001250Seizure
HP:0001260Dysarthria
HP:0001324Muscle weakness
HP:0001347Hyperreflexia
HP:0001511Intrauterine growth retardation
HP:0001998Neonatal hypoglycemia
HP:0002013Vomiting
HP:0002058Myopathic facies
HP:0002059Cerebral atrophy
HP:0002061Lower limb spasticity
HP:0002079Hypoplasia of the corpus callosum
HP:0002151Increased circulating lactate concentration
HP:0002307Drooling
HP:0002353EEG abnormality
HP:0002509Limb hypertonia
HP:0002521Hypsarrhythmia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)