Darier disease
ORPHA:218DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)6
HP:0000989Pruritus
HP:0001034Hypermelanotic macule
HP:0001597Abnormality of the nail
HP:0008410Subungual hyperkeratotic fragments
HP:0045059Hyperkeratotic papule
HP:0200016Acrokeratosis
Частый (30–79%)12
HP:0000498Blepharitis
HP:0000982Palmoplantar keratoderma
HP:0001000Abnormality of skin pigmentation
HP:0001072Thickened skin
HP:0001097Keratoconjunctivitis sicca
HP:0001595Abnormality of the hair
HP:0001808Fragile nails
HP:0005212Anal mucosal leukoplakia
HP:0010610Palmar pits
HP:0010612Plantar pits
HP:0031288Cobblestone-like hyperkeratosis
HP:6001074Longitudinal erythronychia
Периодический (5–29%)7
HP:0000716Depression
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0007302Bipolar affective disorder
HP:0011859Punctate keratitis
HP:0012733Macule
HP:0200037Skin vesicle
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.8 | Slovenia | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.4 | Europe | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.31 | Singapore | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)