Sialidosis type 2
ORPHA:87876DiseaseAutosomal recessiveAntenatal, Childhood, Infancy, Neonatal
Фенотипы (HPO)31
Очень частый (80–99%)19
HP:0000023Inguinal hernia
HP:0000112Nephropathy
HP:0000280Coarse facial features
HP:0000365Hearing impairment
HP:0000750Delayed speech and language development
HP:0000943Dysostosis multiplex
HP:0001103Abnormal macular morphology
HP:0001263Global developmental delay
HP:0001537Umbilical hernia
HP:0001541Ascites
HP:0001744Splenomegaly
HP:0001789Hydrops fetalis
HP:0002240Hepatomegaly
HP:0002808Kyphosis
HP:0004322Short stature
HP:0007957Corneal opacity
HP:0010306Short thorax
HP:0010741Pedal edema
HP:0100022Abnormality of movement
Частый (30–79%)7
HP:0000768Pectus carinatum
HP:0000939Osteoporosis
HP:0001250Seizure
HP:0001251Ataxia
HP:0001290Generalized hypotonia
HP:0001337Tremor
HP:0003202Skeletal muscle atrophy
Периодический (5–29%)5
HP:0001324Muscle weakness
HP:0001371Flexion contracture
HP:0001618Dysphonia
HP:0002094Dyspnea
HP:0005561Abnormality of bone marrow cell morphology
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)