Peroxisomal acyl-CoA oxidase deficiency
ORPHA:2971DiseaseAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)15
HP:0000407Sensorineural hearing impairment
HP:0000512Abnormal electroretinogram
HP:0000649Abnormality of visual evoked potentials
HP:0000668Hypodontia
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001347Hyperreflexia
HP:0001939Abnormality of metabolism/homeostasis
HP:0002167Abnormality of speech or vocalization
HP:0002353EEG abnormality
HP:0002376Developmental regression
HP:0010864Intellectual disability, severe
HP:0012639Abnormal nervous system morphology
Частый (30–79%)12
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000486Strabismus
HP:0000545Myopia
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001508Failure to thrive
HP:0001522Death in infancy
HP:0002093Respiratory insufficiency
HP:0002240Hepatomegaly
HP:0005280Depressed nasal bridge
Периодический (5–29%)2
HP:0001161Hand polydactyly
HP:0001276Hypertonia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)