Epidermolysis bullosa simplex with pyloric atresia
ORPHA:158684DiseaseAutosomal recessiveNeonatal
Ассоциированные гены2
Фенотипы (HPO)29
Частый (30–79%)12
HP:0000079Abnormality of the urinary system
HP:0001030Fragile skin
HP:0001057Aplasia cutis congenita
HP:0002013Vomiting
HP:0003236Elevated circulating creatine kinase concentration
HP:0003270Abdominal distention
HP:0003341Junctional split
HP:0004399Congenital pyloric atresia
HP:0007585Skin fragility with non-scarring blistering
HP:0008066Abnormal blistering of the skin
HP:0200041Skin erosion
HP:0200097Oral mucosal blisters
Периодический (5–29%)17
HP:0000070Ureterocele
HP:0000075Renal duplication
HP:0000096Glomerulosclerosis
HP:0000110Renal dysplasia
HP:0000126Hydronephrosis
HP:0000795Abnormality of the urethra
HP:0001056Milia
HP:0001075Atrophic scars
HP:0001371Flexion contracture
HP:0001561Polyhydramnios
HP:0003560Muscular dystrophy
HP:0004552Scarring alopecia of scalp
HP:0007385Aplasia cutis congenita of scalp
HP:0007589Aplasia cutis congenita on trunk or limbs
HP:0008404Nail dystrophy
HP:0008551Microtia
HP:0010477Aplasia of the bladder
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)