Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
ORPHA:79096DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)2
HP:0002133Status epilepticus
HP:0200134Epileptic encephalopathy
Частый (30–79%)20
HP:0000496Abnormality of eye movement
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001336Myoclonus
HP:0001508Failure to thrive
HP:0001560Abnormality of the amniotic fluid
HP:0001622Premature birth
HP:0001942Metabolic acidosis
HP:0001943Hypoglycemia
HP:0002151Increased circulating lactate concentration
HP:0002283Global brain atrophy
HP:0002317Unsteady gait
HP:0003785Decreased CSF homovanillic acid concentration
HP:0005961Hypoargininemia
HP:0008936Axial hypotonia
HP:0010851EEG with burst suppression
HP:0011968Feeding difficulties
HP:0025430High-pitched cry
HP:0030917Low APGAR score
Периодический (5–29%)7
HP:0000252Microcephaly
HP:0005522Pyridoxine-responsive sideroblastic anemia
HP:0010895Abnormality of glycine metabolism
HP:0010900Abnormality of threonine metabolism
HP:0010904Abnormal circulating histidine concentration
HP:0010909Abnormality of arginine metabolism
HP:0010917Abnormality of tyrosine metabolism
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)