Progressive encephalopathy with leukodystrophy due to DECR deficiency
ORPHA:431361DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Частый (30–79%)28
HP:0000252Microcephaly
HP:0000639Nystagmus
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001266Choreoathetosis
HP:0001272Cerebellar atrophy
HP:0001319Neonatal hypotonia
HP:0001332Dystonia
HP:0001508Failure to thrive
HP:0001733Pancreatitis
HP:0001947Renal tubular acidosis
HP:0001992Organic aciduria
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002161Hyperlysinemia
HP:0002415Leukodystrophy
HP:0002448Progressive encephalopathy
HP:0002470Nonprogressive cerebellar ataxia
HP:0002478Progressive spastic quadriplegia
HP:0003206Decreased activity of NADPH oxidase
HP:0003234Decreased circulating carnitine concentration
HP:0004897Stress/infection-induced lactic acidosis
HP:0010536Central sleep apnea
HP:0010967Abnormal circulating carnitine concentration
HP:0011951Aspiration pneumonia
HP:0012547Abnormal involuntary eye movements
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0100704Cerebral visual impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)