Alpha-1-antitrypsin deficiency
ORPHA:60DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)21
Очень частый (80–99%)3
HP:0002097Emphysema
HP:0002110Bronchiectasis
HP:0032025Reduced circulating alpha-1-antitrypsin concentration
Частый (30–79%)9
HP:0000952Jaundice
HP:0001395Hepatic fibrosis
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0006579Prolonged neonatal jaundice
HP:0008176Neonatal unconjugated hyperbilirubinemia
HP:0012115Hepatitis
HP:0012387Bronchitis
HP:0045051Decreased DLCO
HP:6000976Intrahepatic inclusion bodies
Периодический (5–29%)7
HP:0001394Cirrhosis
HP:0001396Cholestasis
HP:0001409Portal hypertension
HP:0001531Failure to thrive in infancy
HP:0002099Asthma
HP:0006510Chronic pulmonary obstruction
HP:0032230Cytoplasmic antineutrophil antibody positivity
Очень редкий (1–4%)2
HP:0001402Hepatocellular carcinoma
HP:0012490Panniculitis
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 47.5 | Ireland | Value and class |
| Point prevalence | 1-5 / 10 000 | 20 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 25 | Germany | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 17 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | 33 | Specific population | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 63.5 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)