Mucopolysaccharidosis type 1
ORPHA:579DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)57
Очень частый (80–99%)17
HP:0000023Inguinal hernia
HP:0000246Sinusitis
HP:0000280Coarse facial features
HP:0000389Chronic otitis media
HP:0000944Abnormal metaphysis morphology
HP:0001171Split hand
HP:0001387Joint stiffness
HP:0001608Abnormality of the voice
HP:0001744Splenomegaly
HP:0002230Generalized hirsutism
HP:0002650Scoliosis
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0005930Abnormality of epiphysis morphology
HP:0007957Corneal opacity
HP:0008155Mucopolysacchariduria
HP:0100790Hernia
Частый (30–79%)28
HP:0000179Thick lower lip vermilion
HP:0000212Gingival overgrowth
HP:0000232Everted lower lip vermilion
HP:0000256Macrocephaly
HP:0000268Dolichocephaly
HP:0000271Abnormality of the face
HP:0000293Full cheeks
HP:0000294Low anterior hairline
HP:0000365Hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000488Retinopathy
HP:0000501Glaucoma
HP:0000687Widely spaced teeth
HP:0000691Microdontia
HP:0001249Intellectual disability
HP:0002024Malabsorption
HP:0002104Apnea
HP:0002205Recurrent respiratory infections
HP:0002376Developmental regression
HP:0002829Arthralgia
HP:0003272Abnormality of the hip bone
HP:0003401Paresthesia
HP:0005105Abnormal nasal morphology
HP:0005280Depressed nasal bridge
HP:0009928Thick nasal alae
HP:0012735Cough
HP:0100625Enlarged thorax
HP:0100765Abnormality of the tonsils
Периодический (5–29%)12
HP:0000238Hydrocephalus
HP:0000505Visual impairment
HP:0000648Optic atrophy
HP:0001373Joint dislocation
HP:0001635Congestive heart failure
HP:0001639Hypertrophic cardiomyopathy
HP:0001646Abnormal aortic valve morphology
HP:0001654Abnormal heart valve morphology
HP:0003416Spinal canal stenosis
HP:0004374Hemiplegia/hemiparesis
HP:0010885Avascular necrosis
HP:0100261Abnormal tendon morphology
Эпидемиология28
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.69 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.33 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.19 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 | Sweden | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.7 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.85 | Norway | Value and class |
| Point prevalence | 1-5 / 10 000 | 31 | Norway | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.54 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | 7.4 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.8 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.07 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.63 | Tunisia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.11 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.58 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.14 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.72 | Czech Republic | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.82 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.22 | Poland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.23 | Japan | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.19 | 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 | 0.21 | Korea, Republic of | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.24 | Brazil | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Israel | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.1 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)