Autosomal erythropoietic protoporphyria
ORPHA:79278DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)10
Очень частый (80–99%)4
HP:0000989Pruritus
HP:0000992Cutaneous photosensitivity
HP:0010472Abnormal circulating porphyrin concentration
HP:0010783Erythema
Периодический (5–29%)6
HP:0000964Eczematoid dermatitis
HP:0000969Edema
HP:0001081Cholelithiasis
HP:0001394Cirrhosis
HP:0001410Decreased liver function
HP:0001935Microcytic anemia
Эпидемиология22
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.012 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.92 | Europe | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.006 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.46 | France | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.007 | Italy | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.62 | Ireland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.018 | Netherlands | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.54 | Italy | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.036 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.39 | Netherlands | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.003 | Poland | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.77 | Norway | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.003 | Spain | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.15 | Poland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.018 | Sweden | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.23 | Spain | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.035 | Switzerland | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.39 | Sweden | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.033 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.7 | Switzerland | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.54 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.75 | Slovenia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)