Brooke-Spiegler syndrome
ORPHA:79493DiseaseAutosomal dominantAdolescent, Adult
Фенотипы (HPO)20
Очень частый (80–99%)1
HP:0031024Cylindroma
Частый (30–79%)6
HP:0000271Abnormality of the face
HP:0000464Abnormality of the neck
HP:0001965Abnormality of the scalp
HP:0012842Skin appendage neoplasm
HP:0025367Trichoepithelioma
HP:0200036Skin nodule
Периодический (5–29%)6
HP:0001892Abnormal bleeding
HP:0002671Basal cell carcinoma
HP:0007606Multiple cutaneous malignancies
HP:0010732Nodular changes affecting the eyelids
HP:0025512Skin-colored papule
HP:0200042Skin ulcer
Очень редкий (1–4%)7
HP:0000365Hearing impairment
HP:0000372Abnormality of the auditory canal
HP:0000505Visual impairment
HP:0010287Abnormality of the submandibular glands
HP:0010288Abnormality of the sublingual glands
HP:0010628Facial palsy
HP:0100684Salivary gland neoplasm
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)