Mucolipidosis type III
ORPHA:577DiseaseAutosomal recessiveChildhood
Фенотипы (HPO)36
Очень частый (80–99%)11
HP:0000269Prominent occiput
HP:0000505Visual impairment
HP:0001387Joint stiffness
HP:0003264Deficiency of N-acetylglucosamine-1-phosphotransferase
HP:0003272Abnormality of the hip bone
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0004493Craniofacial hyperostosis
HP:0008818Large iliac wings
HP:0008821Hypoplastic inferior ilia
HP:0025261Stiff finger
Частый (30–79%)16
HP:0002857Genu valgum
HP:0003307Hyperlordosis
HP:0007957Corneal opacity
HP:0000280Coarse facial features
HP:0000938Osteopenia
HP:0000943Dysostosis multiplex
HP:0001385Hip dysplasia
HP:0001634Mitral valve prolapse
HP:0002650Scoliosis
HP:0002758Osteoarthritis
HP:0009837Bullet-shaped distal phalanges of the hand
HP:0012185Constrictive median neuropathy
HP:0012532Chronic pain
HP:0030680Abnormal cardiovascular system morphology
HP:0034337Claw hand deformity
HP:0100543Cognitive impairment
Периодический (5–29%)9
HP:0000885Broad ribs
HP:0001072Thickened skin
HP:0001653Mitral regurgitation
HP:0001659Aortic regurgitation
HP:0002091Restrictive ventilatory defect
HP:0002176Spinal cord compression
HP:0002515Waddling gait
HP:0004349Reduced bone mineral density
HP:0012378Fatigue
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.985 | Europe | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.08 | Netherlands | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 1.68 | Portugal | Value and class |
| Point prevalence | 1-5 / 10 000 | 29.55 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.4 | Netherlands | Value and class |
| Point prevalence | 1-5 / 10 000 | 50.4 | Portugal | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)