Dowling-Degos disease
ORPHA:79145DiseaseAutosomal dominantAdolescent, Adult
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PSENEN | presenilin enhancer, gamma-secretase subunit | Disease-causing germline mutation(s) in | gene with protein product | 607632 |
| KRT5 | keratin 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 148040 |
| POFUT1 | protein O-fucosyltransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 607491 |
| POGLUT1 | protein O-glucosyltransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 615618 |
Фенотипы (HPO)25
Очень частый (80–99%)1
HP:0007456Progressive reticulate hyperpigmentation
Частый (30–79%)3
HP:0000464Abnormality of the neck
HP:0000962Hyperkeratosis
HP:0030052Inguinal freckling
Периодический (5–29%)12
HP:0000989Pruritus
HP:0001034Hypermelanotic macule
HP:0001155Abnormality of the hand
HP:0001231Abnormal fingernail morphology
HP:0002046Heat intolerance
HP:0012855Scrotal hyperpigmentation
HP:0025473Hyperpigmented papule
HP:0030350Erythematous papule
HP:0031293Digital pitting scar
HP:0031447Penile freckling
HP:0040154Acne inversa
HP:0045059Hyperkeratotic papule
Очень редкий (1–4%)9
HP:0001369Arthritis
HP:0009123Mixed hypo- and hyperpigmentation of the skin
HP:0010610Palmar pits
HP:0011354Generalized abnormality of skin
HP:0020073Hypopigmented macule
HP:0030442Anal margin squamous cell carcinoma
HP:0031525Keratoacanthoma
HP:0200037Skin vesicle
HP:0200040Epidermoid cyst
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)