Autosomal dominant generalized epidermolysis bullosa simplex, severe form
ORPHA:79396DiseaseAutosomal dominantNeonatal
Ассоциированные гены2
Фенотипы (HPO)44
Очень частый (80–99%)6
HP:0000982Palmoplantar keratoderma
HP:0001030Fragile skin
HP:0008066Abnormal blistering of the skin
HP:0008404Nail dystrophy
HP:0010783Erythema
HP:0011354Generalized abnormality of skin
Частый (30–79%)15
HP:0000953Hyperpigmentation of the skin
HP:0001056Milia
HP:0001057Aplasia cutis congenita
HP:0001075Atrophic scars
HP:0001510Growth delay
HP:0001581Recurrent skin infections
HP:0001596Alopecia
HP:0001903Anemia
HP:0006297Enamel hypoplasia
HP:0007589Aplasia cutis congenita on trunk or limbs
HP:0007599Generalized reticulate brown pigmentation
HP:0011471Gastrostomy tube feeding in infancy
HP:0011968Feeding difficulties
HP:0100699Scarring
HP:0200097Oral mucosal blisters
Периодический (5–29%)22
HP:0000540Hypermetropia
HP:0000613Photophobia
HP:0001010Hypopigmentation of the skin
HP:0001263Global developmental delay
HP:0001363Craniosynostosis
HP:0001508Failure to thrive
HP:0001600Abnormality of the larynx
HP:0001601Laryngomalacia
HP:0001609Hoarse voice
HP:0001805Onychogryposis
HP:0002119Ventriculomegaly
HP:0002719Recurrent infections
HP:0002780Bronchomalacia
HP:0003073Hypoalbuminemia
HP:0004313Decreased circulating antibody level
HP:0005483Abnormal epiglottis morphology
HP:0006934Congenital nystagmus
HP:0007483Depigmentation/hyperpigmentation of skin
HP:0007957Corneal opacity
HP:0008944Distal lower limb amyotrophy
HP:0010298Smooth tongue
HP:0100806Sepsis
Очень редкий (1–4%)1
HP:0006739Squamous cell carcinoma of the skin
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)