Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
ORPHA:79408DiseaseAutosomal recessiveNeonatal
Ассоциированные гены2
Фенотипы (HPO)58
Очень частый (80–99%)12
HP:0000670Carious teeth
HP:0001030Fragile skin
HP:0001056Milia
HP:0001075Atrophic scars
HP:0001371Flexion contracture
HP:0001510Growth delay
HP:0001903Anemia
HP:0004057Mitten deformity
HP:0004386Gastrointestinal inflammation
HP:0008066Abnormal blistering of the skin
HP:0012532Chronic pain
HP:0200097Oral mucosal blisters
Частый (30–79%)11
HP:0000478Abnormality of the eye
HP:0000716Depression
HP:0000739Anxiety
HP:0001798Anonychia
HP:0001891Iron deficiency anemia
HP:0001965Abnormality of the scalp
HP:0002860Squamous cell carcinoma
HP:0008404Nail dystrophy
HP:0011354Generalized abnormality of skin
HP:0031446Erosion of oral mucosa
HP:0032676Chronic cutaneous wound
Периодический (5–29%)29
HP:0000083Renal insufficiency
HP:0000099Glomerulonephritis
HP:0000160Narrow mouth
HP:0000572Visual loss
HP:0000794IgA deposition in the glomerulus
HP:0000823Delayed puberty
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001057Aplasia cutis congenita
HP:0001581Recurrent skin infections
HP:0001644Dilated cardiomyopathy
HP:0001917Renal amyloidosis
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002839Urinary bladder sphincter dysfunction
HP:0004395Malnutrition
HP:0004791Esophageal ulceration
HP:0008366Foot joint contracture
HP:0010296Ankyloglossia
HP:0011936Decreased plasma total carnitine
HP:0012056Cutaneous melanoma
HP:0012227Urethral stricture
HP:0012390Anal fissure
HP:0012622Chronic kidney disease
HP:0031831Decreased serum zinc
HP:0031903Abnormal circulating selenium concentration
HP:0100508Abnormality of vitamin metabolism
HP:0100512Low levels of vitamin D
HP:0200020Corneal erosion
Очень редкий (1–4%)2
HP:0000079Abnormality of the urinary system
HP:0031464Genital blistering
Исключён (0%)4
HP:0000982Palmoplantar keratoderma
HP:0002671Basal cell carcinoma
HP:0006297Enamel hypoplasia
HP:0012252Abnormal respiratory system morphology
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.3 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.963 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.2222 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)