Amelogenesis imperfecta
ORPHA:88661DiseaseAutosomal dominant, Autosomal recessive, X-linked dominantInfancy, Neonatal
Фенотипы (HPO)16
Очень частый (80–99%)2
HP:0006286Yellow-brown discoloration of the teeth
HP:0011073Abnormality of dental color
Частый (30–79%)7
HP:0005216Impaired mastication
HP:0006285Enamel hypomineralization
HP:0006297Enamel hypoplasia
HP:0009102Anterior open-bite malocclusion
HP:0011084Hypocalcification of dental enamel
HP:0011085Hypomature dental enamel
HP:0025124Fragile teeth
Периодический (5–29%)7
HP:0000679Taurodontia
HP:0000685Hypoplasia of teeth
HP:0000687Widely spaced teeth
HP:0006283Multiple unerupted teeth
HP:0010299Abnormality of dentin
HP:0011071Abnormality of permanent molar morphology
HP:0030791Abnormal jaw morphology
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 7.1 | United States | Value and class |
| Point prevalence | 6-9 / 10 000 | 90 | India | Value and class |
| Point prevalence | >1 / 1000 | 142 | Sweden | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)