Mucopolysaccharidosis type 6
ORPHA:583DiseaseAutosomal recessiveChildhood
Фенотипы (HPO)27
Очень частый (80–99%)13
HP:0000179Thick lower lip vermilion
HP:0000246Sinusitis
HP:0000280Coarse facial features
HP:0000389Chronic otitis media
HP:0000944Abnormal metaphysis morphology
HP:0001387Joint stiffness
HP:0001508Failure to thrive
HP:0002656Epiphyseal dysplasia
HP:0002788Recurrent upper respiratory tract infections
HP:0003521Disproportionate short-trunk short stature
HP:0007759Opacification of the corneal stroma
HP:0008155Mucopolysacchariduria
HP:0009928Thick nasal alae
Частый (30–79%)8
HP:0000365Hearing impairment
HP:0000470Short neck
HP:0000885Broad ribs
HP:0001744Splenomegaly
HP:0002808Kyphosis
HP:0002857Genu valgum
HP:0003300Ovoid vertebral bodies
HP:0100790Hernia
Периодический (5–29%)6
HP:0030680Abnormal cardiovascular system morphology
HP:0000158Macroglossia
HP:0000505Visual impairment
HP:0001654Abnormal heart valve morphology
HP:0030680Abnormal cardiovascular system morphology
HP:0100543Cognitive impairment
Эпидемиология27
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.16 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.23 | Germany | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.15 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.42 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.23 | Sweden | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.3 | Sweden | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.07 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.2 | Norway | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.05 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.7 | Denmark | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.05 | Czech Republic | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.37 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 | Canada | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.14 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.27 | Estonia | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.059 | Colombia | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.16 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.3 | Turkey | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.0132 | Poland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.85 | Saudi Arabia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.28 | Brazil | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.03 | Japan | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.11 | Switzerland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Tunisia | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.019 | Korea, Republic of | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.04 | United States | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.011 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)