Mucopolysaccharidosis type 7
ORPHA:584DiseaseAutosomal recessiveAdolescent, Antenatal, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)14
HP:0000023Inguinal hernia
HP:0000280Coarse facial features
HP:0001004Lymphedema
HP:0001249Intellectual disability
HP:0001537Umbilical hernia
HP:0001541Ascites
HP:0002103Abnormality of the pleura
HP:0002205Recurrent respiratory infections
HP:0002650Scoliosis
HP:0004607Anterior beaking of lower thoracic vertebrae
HP:0005019Diaphyseal thickening
HP:0007957Corneal opacity
HP:0008430Anterior beaking of lumbar vertebrae
HP:0012368Flat face
Частый (30–79%)9
HP:0001252Hypotonia
HP:0001387Joint stiffness
HP:0001744Splenomegaly
HP:0001789Hydrops fetalis
HP:0001840Metatarsus adductus
HP:0003272Abnormality of the hip bone
HP:0008155Mucopolysacchariduria
HP:0010655Epiphyseal stippling
HP:0012115Hepatitis
Периодический (5–29%)3
HP:0000470Short neck
HP:0100026Arteriovenous malformation
HP:0100625Enlarged thorax
Эпидемиология10
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.01 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.24 | Netherlands | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.02 | Brazil | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.02 | Czech Republic | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.02 | Japan | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.038 | Switzerland | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.047 | Australia | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.007 | United States | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.027 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.29 | Canada | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)