Punctate palmoplantar keratoderma type 1
ORPHA:79501DiseaseAutosomal dominantAdolescent, Adult
Ассоциированные гены2
Фенотипы (HPO)25
Очень частый (80–99%)4
HP:0000972Palmoplantar hyperkeratosis
HP:0000982Palmoplantar keratoderma
HP:0011124Abnormality of epidermal morphology
HP:0045059Hyperkeratotic papule
Частый (30–79%)3
HP:0025092Epidermal acanthosis
HP:0025114Hypergranulosis
HP:0040162Orthokeratosis
Периодический (5–29%)5
HP:0002861Melanoma
HP:0003002Breast carcinoma
HP:0012500Verrucous papule
HP:0012531Pain
HP:0100751Esophageal neoplasm
Очень редкий (1–4%)13
HP:0002671Basal cell carcinoma
HP:0002860Squamous cell carcinoma
HP:0005584Renal cell carcinoma
HP:0006725Pancreatic adenocarcinoma
HP:0008404Nail dystrophy
HP:0010622Neoplasm of the skeletal system
HP:0012125Prostate cancer
HP:0012126Stomach cancer
HP:0012189Hodgkin lymphoma
HP:0030692Brain neoplasm
HP:0040274Adenocarcinoma of the small intestine
HP:0040276Adenocarcinoma of the colon
HP:0100526Neoplasm of the lung
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 437 | Worldwide | Case(s) |
| Point prevalence | 1-9 / 100 000 | 1.17 | Croatia | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.3 | Slovenia | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.22 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)