Mucolipidosis type III alpha/beta
ORPHA:423461Clinical subtypeAutosomal recessiveAdolescent, Adult, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)36
Очень частый (80–99%)4
HP:0001387Joint stiffness
HP:0004322Short stature
HP:0008897Postnatal growth retardation
HP:0010471Oligosacchariduria
Частый (30–79%)19
HP:0000212Gingival overgrowth
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000403Recurrent otitis media
HP:0000405Conductive hearing impairment
HP:0000470Short neck
HP:0000943Dysostosis multiplex
HP:0001072Thickened skin
HP:0001288Gait disturbance
HP:0001371Flexion contracture
HP:0001653Mitral regurgitation
HP:0001659Aortic regurgitation
HP:0002653Bone pain
HP:0002751Kyphoscoliosis
HP:0005280Depressed nasal bridge
HP:0009023Abdominal wall muscle weakness
HP:0012069Keratan sulfate excretion in urine
HP:0040160Generalized osteoporosis
Периодический (5–29%)11
HP:0001537Umbilical hernia
HP:0001540Diastasis recti
HP:0001609Hoarse voice
HP:0001635Congestive heart failure
HP:0001667Right ventricular hypertrophy
HP:0002505Loss of ambulation
HP:0002788Recurrent upper respiratory tract infections
HP:0002797Osteolysis
HP:0007957Corneal opacity
HP:0012185Constrictive median neuropathy
HP:0100543Cognitive impairment
Очень редкий (1–4%)2
HP:0000407Sensorineural hearing impairment
HP:0000520Proptosis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 13 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)