6-pyruvoyl-tetrahydropterin synthase deficiency
ORPHA:13Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)31
Частый (30–79%)2
HP:0001252Hypotonia
HP:0002179Opisthotonus
Периодический (5–29%)29
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0000508Ptosis
HP:0000711Restlessness
HP:0000713Agitation
HP:0000716Depression
HP:0000750Delayed speech and language development
HP:0000980Pallor
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001266Choreoathetosis
HP:0001270Motor delay
HP:0001276Hypertonia
HP:0001347Hyperreflexia
HP:0002015Dysphagia
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002071Abnormality of extrapyramidal motor function
HP:0002072Chorea
HP:0002169Clonus
HP:0002329Drowsiness
HP:0002421Poor head control
HP:0002487Hyperkinetic movements
HP:0002521Hypsarrhythmia
HP:0002527Falls
HP:0003781Excessive salivation
HP:0010553Oculogyric crisis
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | <1 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | <1 / 1 000 000 | 0.0854 | Brazil | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3094 | China | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.5258 | Hong Kong | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)