Inherited epidermodysplasia verruciformis
ORPHA:302DiseaseAutosomal recessiveAll ages
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TMC6 | transmembrane channel like 6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605828 |
| TMC8 | transmembrane channel like 8 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605829 |
| IL7 | interleukin 7 | Disease-causing germline mutation(s) in | gene with protein product | 146660 |
| CIB1 | calcium and integrin binding 1 | Disease-causing germline mutation(s) in | gene with protein product | 602293 |
Фенотипы (HPO)11
Очень частый (80–99%)7
HP:0001051Seborrheic dermatitis
HP:0001581Recurrent skin infections
HP:0002715Abnormality of the immune system
HP:0200034Papule
HP:0200035Skin plaque
HP:0200039Pustule
HP:0200043Verrucae
Частый (30–79%)2
HP:0001053Hypopigmented skin patches
HP:0007565Multiple cafe-au-lait spots
Периодический (5–29%)2
HP:0002860Squamous cell carcinoma
HP:0100585Telangiectasia of the skin
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | 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)