Sialidosis type 1
ORPHA:812DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)42
Очень частый (80–99%)30
HP:0000179Thick lower lip vermilion
HP:0000280Coarse facial features
HP:0000407Sensorineural hearing impairment
HP:0000431Wide nasal bridge
HP:0000488Retinopathy
HP:0000505Visual impairment
HP:0000529Progressive visual loss
HP:0000639Nystagmus
HP:0000768Pectus carinatum
HP:0000943Dysostosis multiplex
HP:0000962Hyperkeratosis
HP:0001250Seizure
HP:0001251Ataxia
HP:0001288Gait disturbance
HP:0001336Myoclonus
HP:0001350Slurred speech
HP:0001744Splenomegaly
HP:0002167Abnormality of speech or vocalization
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0002750Delayed skeletal maturation
HP:0003355Aminoaciduria
HP:0003461Increased urinary O-linked sialopeptides
HP:0004322Short stature
HP:0007957Corneal opacity
HP:0010306Short thorax
HP:0010729Cherry red spot of the macula
HP:0011276Vascular skin abnormality
HP:0012061Urinary excretion of sialylated oligosaccharides
HP:0100022Abnormality of movement
Частый (30–79%)10
HP:0000762Decreased nerve conduction velocity
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001324Muscle weakness
HP:0001337Tremor
HP:0002007Frontal bossing
HP:0002353EEG abnormality
HP:0003202Skeletal muscle atrophy
HP:0003312Abnormal form of the vertebral bodies
HP:0100790Hernia
Периодический (5–29%)2
HP:0000518Cataract
HP:0002808Kyphosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | <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)