Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
ORPHA:89842DiseaseAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)7
HP:0000987Atypical scarring of skin
HP:0001030Fragile skin
HP:0001510Growth delay
HP:0001903Anemia
HP:0004325Decreased body weight
HP:0008066Abnormal blistering of the skin
HP:0031903Abnormal circulating selenium concentration
Частый (30–79%)21
HP:0000670Carious teeth
HP:0001056Milia
HP:0001508Failure to thrive
HP:0001581Recurrent skin infections
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002031Abnormal esophagus morphology
HP:0002043Esophageal stricture
HP:0003073Hypoalbuminemia
HP:0003202Skeletal muscle atrophy
HP:0003234Decreased circulating carnitine concentration
HP:0004395Malnutrition
HP:0007400Irregular hyperpigmentation
HP:0010450Esophageal stenosis
HP:0011968Feeding difficulties
HP:0031831Decreased serum zinc
HP:0032676Chronic cutaneous wound
HP:0040303Decreased serum iron
HP:0100512Low levels of vitamin D
HP:0200041Skin erosion
Периодический (5–29%)17
HP:0000160Narrow mouth
HP:0000572Visual loss
HP:0000716Depression
HP:0000739Anxiety
HP:0000823Delayed puberty
HP:0001057Aplasia cutis congenita
HP:0001371Flexion contracture
HP:0001644Dilated cardiomyopathy
HP:0001798Anonychia
HP:0001802Absent toenail
HP:0002164Nail dysplasia
HP:0003764Nevus
HP:0004057Mitten deformity
HP:0010296Ankyloglossia
HP:0011471Gastrostomy tube feeding in infancy
HP:0012390Anal fissure
HP:0200020Corneal erosion
Очень редкий (1–4%)1
HP:0002860Squamous cell carcinoma
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)