Netherton syndrome
ORPHA:634DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)14
HP:0000956Acanthosis nigricans
HP:0000964Eczematoid dermatitis
HP:0001025Urticaria
HP:0001595Abnormality of the hair
HP:0002024Malabsorption
HP:0002099Asthma
HP:0002209Sparse scalp hair
HP:0002213Fine hair
HP:0003212Increased circulating IgE level
HP:0007400Irregular hyperpigmentation
HP:0007479Congenital nonbullous ichthyosiform erythroderma
HP:0008064Ichthyosis
HP:0009886Trichorrhexis nodosa
HP:0100326Immunologic hypersensitivity
Частый (30–79%)6
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0002097Emphysema
HP:0002205Recurrent respiratory infections
HP:0004313Decreased circulating antibody level
Периодический (5–29%)11
HP:0000086Ectopic kidney
HP:0000126Hydronephrosis
HP:0000653Sparse eyelashes
HP:0000958Dry skin
HP:0000988Skin rash
HP:0001019Erythroderma
HP:0001944Dehydration
HP:0002719Recurrent infections
HP:0003355Aminoaciduria
HP:0004322Short stature
HP:0045075Sparse eyebrow
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)