Propionic acidemia
ORPHA:35DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)11
Очень частый (80–99%)5
HP:0001943Hypoglycemia
HP:0001987Hyperammonemia
HP:0001992Organic aciduria
HP:0002019Constipation
HP:0003353Propionyl-CoA carboxylase deficiency
Частый (30–79%)5
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002240Hepatomegaly
HP:0010978Abnormality of immune system physiology
HP:0011675Arrhythmia
Периодический (5–29%)1
HP:0001638Cardiomyopathy
Эпидемиология9
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | >1 / 1000 | 100 | Canada | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.5 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4 | Germany | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 33 | Saudi Arabia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.7 | Japan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.23 | Korea, Republic of | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.0278 | China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)