Mucopolysaccharidosis type 3
ORPHA:581DiseaseAutosomal recessiveChildhood
Фенотипы (HPO)106
Очень частый (80–99%)12
HP:0000389Chronic otitis media
HP:0000750Delayed speech and language development
HP:0002024Malabsorption
HP:0002208Coarse hair
HP:0002230Generalized hirsutism
HP:0002344Progressive neurologic deterioration
HP:0002360Sleep abnormality
HP:0003541Urinary glycosaminoglycan excretion
HP:0006887Intellectual disability, progressive
HP:0007009Central nervous system degeneration
HP:0008155Mucopolysacchariduria
HP:0010864Intellectual disability, severe
Частый (30–79%)32
HP:0000280Coarse facial features
HP:0000365Hearing impairment
HP:0000388Otitis media
HP:0000518Cataract
HP:0000545Myopia
HP:0000664Synophrys
HP:0000708Atypical behavior
HP:0000752Hyperactivity
HP:0000772Abnormal rib morphology
HP:0000889Abnormality of the clavicle
HP:0001007Hirsutism
HP:0001251Ataxia
HP:0001276Hypertonia
HP:0001288Gait disturbance
HP:0001328Specific learning disability
HP:0001604Vocal cord paresis
HP:0001744Splenomegaly
HP:0001999Abnormal facial shape
HP:0002159Heparan sulfate excretion in urine
HP:0002240Hepatomegaly
HP:0002254Intermittent diarrhea
HP:0002376Developmental regression
HP:0002857Genu valgum
HP:0003312Abnormal form of the vertebral bodies
HP:0004493Craniofacial hyperostosis
HP:0005425Recurrent sinopulmonary infections
HP:0011110Recurrent tonsillitis
HP:0011842Abnormality of skeletal morphology
HP:0011947Respiratory tract infection
HP:0031458Adenoiditis
HP:0100874Thick hair
HP:0410263Brain imaging abnormality
Периодический (5–29%)52
HP:0000023Inguinal hernia
HP:0000158Macroglossia
HP:0000164Abnormality of the dentition
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000268Dolichocephaly
HP:0000391Thickened helices
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000410Mixed hearing impairment
HP:0000510Rod-cone dystrophy
HP:0000580Pigmentary retinopathy
HP:0000718Aggressive behavior
HP:0000726Dementia
HP:0000943Dysostosis multiplex
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001270Motor delay
HP:0001371Flexion contracture
HP:0001385Hip dysplasia
HP:0001387Joint stiffness
HP:0001537Umbilical hernia
HP:0001538Protuberant abdomen
HP:0001633Abnormal mitral valve morphology
HP:0001637Abnormal myocardium morphology
HP:0001640Cardiomegaly
HP:0001646Abnormal aortic valve morphology
HP:0001678Atrioventricular block
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002119Ventriculomegaly
HP:0002505Loss of ambulation
HP:0002650Scoliosis
HP:0002659Increased susceptibility to fractures
HP:0002781Upper airway obstruction
HP:0002870Obstructive sleep apnea
HP:0004349Reduced bone mineral density
HP:0004452Abnormality of the middle ear ossicles
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0006801Hyperactive deep tendon reflexes
HP:0007256Abnormal pyramidal sign
HP:0009928Thick nasal alae
HP:0011951Aspiration pneumonia
HP:0012185Constrictive median neuropathy
HP:0012471Thick vermilion border
HP:0012664Reduced left ventricular ejection fraction
HP:0025160Abnormal temper tantrums
HP:0030195Fatigable weakness of swallowing muscles
HP:0030838Hip pain
HP:0100512Low levels of vitamin D
Очень редкий (1–4%)10
HP:0000546Retinal degeneration
HP:0000618Blindness
HP:0000648Optic atrophy
HP:0000662Nyctalopia
HP:0000710Hyperorality
HP:0000734Disinhibition
HP:0001133Constriction of peripheral visual field
HP:0007759Opacification of the corneal stroma
HP:0007957Corneal opacity
HP:5200321Amplification of sexual behavior
Эпидемиология29
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.21 | Brazil | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.87 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.57 | Germany | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.84 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.89 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.42 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.91 | Czech Republic | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.84 | Sweden | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.63 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.27 | Norway | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.88 | Norway | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.43 | Denmark | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.92 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.36 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.29 | Canada | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.39 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 | Tunisia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.3 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.86 | Poland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.26 | 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 | 1.8 | Saudi Arabia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 | Korea, Republic of | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.62 | Estonia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.4 | Israel | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.8 | Specific population | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.071 | 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)