Hurler syndrome
ORPHA:93473Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)59
Очень частый (80–99%)26
HP:0000280Coarse facial features
HP:0000293Full cheeks
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000574Thick eyebrow
HP:0000924Abnormality of the skeletal system
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001376Limitation of joint mobility
HP:0001638Cardiomyopathy
HP:0001654Abnormal heart valve morphology
HP:0001744Splenomegaly
HP:0002007Frontal bossing
HP:0002230Generalized hirsutism
HP:0002240Hepatomegaly
HP:0002652Skeletal dysplasia
HP:0003468Abnormal vertebral morphology
HP:0005280Depressed nasal bridge
HP:0008155Mucopolysacchariduria
HP:0012384Rhinitis
HP:0100021Cerebral palsy
HP:0100729Large face
HP:0100765Abnormality of the tonsils
HP:0100790Hernia
Частый (30–79%)26
HP:0000158Macroglossia
HP:0000232Everted lower lip vermilion
HP:0000238Hydrocephalus
HP:0000268Dolichocephaly
HP:0000365Hearing impairment
HP:0000488Retinopathy
HP:0000501Glaucoma
HP:0000716Depression
HP:0000772Abnormal rib morphology
HP:0000822Hypertension
HP:0000889Abnormality of the clavicle
HP:0000940Abnormal diaphysis morphology
HP:0001510Growth delay
HP:0001522Death in infancy
HP:0002028Chronic diarrhea
HP:0002205Recurrent respiratory infections
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0003275Narrow pelvis bone
HP:0004322Short stature
HP:0005930Abnormality of epiphysis morphology
HP:0007957Corneal opacity
HP:0009811Abnormality of the elbow
HP:0011968Feeding difficulties
HP:0012471Thick vermilion border
HP:0100490Camptodactyly of finger
Периодический (5–29%)7
HP:0001000Abnormality of skin pigmentation
HP:0001681Angina pectoris
HP:0001706Endocardial fibroelastosis
HP:0002313Spastic paraparesis
HP:0003416Spinal canal stenosis
HP:0007256Abnormal pyramidal sign
HP:0040129Abnormal nerve conduction velocity
Эпидемиология11
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.76 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.64 | Germany | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | Denmark | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Denmark | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.05 | Portugal | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.06 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.93 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 | Europe | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.07 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.26 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)