Pyruvate dehydrogenase E1-beta deficiency
ORPHA:255138Clinical subtypeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)23
Частый (30–79%)8
HP:0001252Hypotonia
HP:0001274Agenesis of corpus callosum
HP:0001999Abnormal facial shape
HP:0002683Abnormality of the calvaria
HP:0002928Decreased activity of the pyruvate dehydrogenase complex
HP:0003128Lactic acidosis
HP:0004325Decreased body weight
HP:0012758Neurodevelopmental delay
Периодический (5–29%)15
HP:0001250Seizure
HP:0001251Ataxia
HP:0001302Pachygyria
HP:0001315Reduced tendon reflexes
HP:0001321Cerebellar hypoplasia
HP:0001511Intrauterine growth retardation
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002365Hypoplasia of the brainstem
HP:0006970Periventricular leukomalacia
HP:0007016Corticospinal tract hypoplasia
HP:0007109Periventricular cysts
HP:0007165Periventricular heterotopia
HP:0007772Impaired smooth pursuit
HP:0200012Short corpus callosum
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)