Dentinogenesis imperfecta
ORPHA:49042DiseaseAutosomal dominantChildhood
Фенотипы (HPO)21
Очень частый (80–99%)2
HP:0006350Obliteration of the pulp chamber
HP:0006486Abnormality of the dental root
Частый (30–79%)9
HP:0000683Grayish enamel
HP:0000694Odontodysplasia
HP:0001382Joint hypermobility
HP:0006282Generalized hypoplasia of dental enamel
HP:0006286Yellow-brown discoloration of the teeth
HP:0006479Abnormality of the dental pulp
HP:0010299Abnormality of dentin
HP:0011084Hypocalcification of dental enamel
HP:0025124Fragile teeth
Периодический (5–29%)7
HP:0000978Bruising susceptibility
HP:0001592Selective tooth agenesis
HP:0006094Finger joint hypermobility
HP:0006335Persistence of primary teeth
HP:0006336Short dental roots
HP:0010485Hyperextensibility at elbow
HP:0045086Knee joint hypermobility
Очень редкий (1–4%)3
HP:0000365Hearing impairment
HP:0000592Blue sclerae
HP:0003010Prolonged bleeding time
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 14.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)