Phosphoserine aminotransferase deficiency, infantile/juvenile form
ORPHA:284417Etiological subtypeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)7
HP:0001531Failure to thrive in infancy
HP:0002154Hyperglycinemia
HP:0008872Feeding difficulties in infancy
HP:0011451Congenital microcephaly
HP:0012279Hyposerinemia
HP:0012736Profound global developmental delay
HP:0030215Inappropriate crying
Частый (30–79%)8
HP:0000474Thickened nuchal skin fold
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001347Hyperreflexia
HP:0001511Intrauterine growth retardation
HP:0002079Hypoplasia of the corpus callosum
HP:0008936Axial hypotonia
HP:0012430Cerebral white matter hypoplasia
Периодический (5–29%)25
HP:0000316Hypertelorism
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000470Short neck
HP:0001285Spastic tetraparesis
HP:0001320Cerebellar vermis hypoplasia
HP:0001336Myoclonus
HP:0001339Lissencephaly
HP:0001363Craniosynostosis
HP:0001776Bilateral talipes equinovarus
HP:0002392EEG with polyspike wave complexes
HP:0003121Limb joint contracture
HP:0005280Depressed nasal bridge
HP:0006380Knee flexion contracture
HP:0006466Ankle flexion contracture
HP:0006956Dilation of lateral ventricles
HP:0007704Paroxysmal involuntary eye movements
HP:0008064Ichthyosis
HP:0009879Simplified gyral pattern
HP:0011097Epileptic spasm
HP:0011196EEG with focal sharp waves
HP:0011471Gastrostomy tube feeding in infancy
HP:0012448Delayed myelination
HP:0040288Nasogastric tube feeding
HP:0200048Cyanotic episode
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| 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)