Acrodermatitis enteropathica
ORPHA:37DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)12
HP:0000492Abnormal eyelid morphology
HP:0000534Abnormal eyebrow morphology
HP:0000958Dry skin
HP:0001596Alopecia
HP:0002024Malabsorption
HP:0002028Chronic diarrhea
HP:0002120Cerebral cortical atrophy
HP:0004322Short stature
HP:0008066Abnormal blistering of the skin
HP:0010783Erythema
HP:0011354Generalized abnormality of skin
HP:0200039Pustule
Частый (30–79%)14
HP:0000157Abnormality of the tongue
HP:0000206Glossitis
HP:0000221Furrowed tongue
HP:0000498Blepharitis
HP:0000509Conjunctivitis
HP:0000613Photophobia
HP:0000712Emotional lability
HP:0001508Failure to thrive
HP:0001597Abnormality of the nail
HP:0001807Ridged nail
HP:0001818Paronychia
HP:0008402Ridged fingernail
HP:0100825Cheilitis
HP:0200042Skin ulcer
Периодический (5–29%)5
HP:0000505Visual impairment
HP:0001824Weight loss
HP:0002039Anorexia
HP:0004396Poor appetite
HP:0200020Corneal erosion
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | Denmark | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Denmark | Class only |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)