Papillon-Lefèvre syndrome
ORPHA:678DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)11
HP:0000164Abnormality of the dentition
HP:0000166Severe periodontitis
HP:0000230Gingivitis
HP:0000704Periodontitis
HP:0000972Palmoplantar hyperkeratosis
HP:0000982Palmoplantar keratoderma
HP:0001231Abnormal fingernail morphology
HP:0006308Atrophy of alveolar ridges
HP:0006323Premature loss of primary teeth
HP:0009804Tooth agenesis
HP:0200039Pustule
Частый (30–79%)7
HP:0001581Recurrent skin infections
HP:0001597Abnormality of the nail
HP:0002205Recurrent respiratory infections
HP:0002514Cerebral calcification
HP:0008404Nail dystrophy
HP:0011132Chronic furunculosis
HP:0100838Recurrent cutaneous abscess formation
Периодический (5–29%)11
HP:0000998Hypertrichosis
HP:0001053Hypopigmented skin patches
HP:0001073Cigarette-paper scars
HP:0001166Arachnodactyly
HP:0002230Generalized hirsutism
HP:0002231Sparse body hair
HP:0002797Osteolysis
HP:0002860Squamous cell carcinoma
HP:0002861Melanoma
HP:0008069Neoplasm of the skin
HP:0100523Liver abscess
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.25 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)