Hidrotic ectodermal dysplasia
ORPHA:189DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)27
Частый (30–79%)7
HP:0000653Sparse eyelashes
HP:0000972Palmoplantar hyperkeratosis
HP:0000982Palmoplantar keratoderma
HP:0001596Alopecia
HP:0008070Sparse hair
HP:0008404Nail dystrophy
HP:0045075Sparse eyebrow
Периодический (5–29%)20
HP:0000365Hearing impairment
HP:0000953Hyperpigmentation of the skin
HP:0001072Thickened skin
HP:0001792Small nail
HP:0001798Anonychia
HP:0002209Sparse scalp hair
HP:0002213Fine hair
HP:0002215Sparse axillary hair
HP:0002221Absent axillary hair
HP:0002223Absent eyebrow
HP:0002225Sparse pubic hair
HP:0002555Absent pubic hair
HP:0004528Generalized hypotrichosis
HP:0004779Brittle scalp hair
HP:0005599Hypopigmentation of hair
HP:0008383Slow-growing nails
HP:0011911Abnormality of metacarpophalangeal joint
HP:0031288Cobblestone-like hyperkeratosis
HP:0045059Hyperkeratotic papule
HP:0100759Clubbing of fingers
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)