Mucopolysaccharidosis type 4
ORPHA:582DiseaseAutosomal recessiveChildhood, Infancy
Фенотипы (HPO)34
Очень частый (80–99%)17
HP:0000164Abnormality of the dentition
HP:0000365Hearing impairment
HP:0000470Short neck
HP:0000768Pectus carinatum
HP:0000772Abnormal rib morphology
HP:0000944Abnormal metaphysis morphology
HP:0001288Gait disturbance
HP:0002750Delayed skeletal maturation
HP:0002857Genu valgum
HP:0004322Short stature
HP:0004349Reduced bone mineral density
HP:0005930Abnormality of epiphysis morphology
HP:0006487Bowing of the long bones
HP:0007957Corneal opacity
HP:0008155Mucopolysacchariduria
HP:0010306Short thorax
HP:0001382Joint hypermobility
Частый (30–79%)15
HP:0000154Wide mouth
HP:0000280Coarse facial features
HP:0000463Anteverted nares
HP:0000670Carious teeth
HP:0000682Abnormality of dental enamel
HP:0000683Grayish enamel
HP:0000926Platyspondyly
HP:0001373Joint dislocation
HP:0001654Abnormal heart valve morphology
HP:0002650Scoliosis
HP:0002673Coxa valga
HP:0002808Kyphosis
HP:0003307Hyperlordosis
HP:0003416Spinal canal stenosis
HP:0100790Hernia
Периодический (5–29%)2
HP:0000256Macrocephaly
HP:0100543Cognitive impairment
Эпидемиология21
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | <1 / 1 000 000 | 0.07 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.76 | Norway | Value and class |
| Point prevalence | 1-5 / 10 000 | 24.2 | Norway | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.48 | Denmark | Value and class |
| Point prevalence | 1-5 / 10 000 | 31 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.73 | Czech Republic | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.45 | Tunisia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.33 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.45 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.36 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.14 | Poland | Value and class |
| Point prevalence | 1-5 / 10 000 | 27.6 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.15 | Japan | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | Switzerland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.62 | Saudi Arabia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.13 | Korea, Republic of | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.14 | Brazil | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 | Portugal | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.038 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.14 | United States | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.07 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)