Sjögren-Larsson syndrome
ORPHA:816DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)10
HP:0000958Dry skin
HP:0000962Hyperkeratosis
HP:0001249Intellectual disability
HP:0001257Spasticity
HP:0001264Spastic diplegia
HP:0002652Skeletal dysplasia
HP:0002808Kyphosis
HP:0007256Abnormal pyramidal sign
HP:0008064Ichthyosis
HP:0010783Erythema
Частый (30–79%)11
HP:0000488Retinopathy
HP:0000545Myopia
HP:0000608Macular degeneration
HP:0000613Photophobia
HP:0001250Seizure
HP:0001260Dysarthria
HP:0002167Abnormality of speech or vocalization
HP:0007440Generalized hyperpigmentation
HP:0007703Abnormality of retinal pigmentation
HP:0100533Inflammatory abnormality of the eye
HP:0200020Corneal erosion
Периодический (5–29%)7
HP:0000252Microcephaly
HP:0000682Abnormality of dental enamel
HP:0001025Urticaria
HP:0001252Hypotonia
HP:0001387Joint stiffness
HP:0002650Scoliosis
HP:0004322Short stature
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 | Sweden | Value and class |
| Point prevalence | 1-5 / 10 000 | 16 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)