Pyruvate dehydrogenase deficiency
ORPHA:765DiseaseAutosomal recessive, Not applicable, X-linked dominantChildhood, Infancy, Neonatal
Фенотипы (HPO)35
Очень частый (80–99%)5
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001510Growth delay
HP:0001999Abnormal facial shape
HP:0008872Feeding difficulties in infancy
Частый (30–79%)15
HP:0000252Microcephaly
HP:0000496Abnormality of eye movement
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001266Choreoathetosis
HP:0001288Gait disturbance
HP:0001337Tremor
HP:0001511Intrauterine growth retardation
HP:0002789Tachypnea
HP:0007256Abnormal pyramidal sign
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0100453Osteolytic defects of the middle phalanx of the 4th toe
Периодический (5–29%)15
HP:0000218High palate
HP:0000243Trigonocephaly
HP:0000275Narrow face
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000431Wide nasal bridge
HP:0000582Upslanted palpebral fissure
HP:0000767Pectus excavatum
HP:0001012Multiple lipomas
HP:0001332Dystonia
HP:0002007Frontal bossing
HP:0002094Dyspnea
HP:0002119Ventriculomegaly
HP:0100021Cerebral palsy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)