Mucopolysaccharidosis type 2
ORPHA:580DiseaseX-linked recessiveChildhood
Фенотипы (HPO)73
Очень частый (80–99%)5
HP:0000256Macrocephaly
HP:0000280Coarse facial features
HP:0001376Limitation of joint mobility
HP:0001627Abnormal heart morphology
HP:0004322Short stature
Частый (30–79%)35
HP:0000023Inguinal hernia
HP:0000158Macroglossia
HP:0000212Gingival overgrowth
HP:0000293Full cheeks
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000488Retinopathy
HP:0000546Retinal degeneration
HP:0000708Atypical behavior
HP:0000762Decreased nerve conduction velocity
HP:0000943Dysostosis multiplex
HP:0001268Mental deterioration
HP:0001510Growth delay
HP:0001537Umbilical hernia
HP:0001609Hoarse voice
HP:0001654Abnormal heart valve morphology
HP:0001744Splenomegaly
HP:0002028Chronic diarrhea
HP:0002159Heparan sulfate excretion in urine
HP:0002240Hepatomegaly
HP:0002344Progressive neurologic deterioration
HP:0002360Sleep abnormality
HP:0002376Developmental regression
HP:0002788Recurrent upper respiratory tract infections
HP:0004582Irregularity of vertebral bodies
HP:0005781Contractures of the large joints
HP:0006979Sleep-wake cycle disturbance
HP:0007994Peripheral visual field loss
HP:0008301Dermatan sulfate excretion in urine
HP:0010535Sleep apnea
HP:0012471Thick vermilion border
HP:0030044Flexion contracture of digit
HP:0030812Enlarged tonsils
HP:0100543Cognitive impairment
HP:0410018Recurrent ear infections
Периодический (5–29%)26
HP:0000336Prominent supraorbital ridges
HP:0000362Otosclerosis
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0000648Optic atrophy
HP:0000752Hyperactivity
HP:0001085Papilledema
HP:0001263Global developmental delay
HP:0001334Communicating hydrocephalus
HP:0001385Hip dysplasia
HP:0001633Abnormal mitral valve morphology
HP:0001638Cardiomyopathy
HP:0001641Abnormal pulmonary valve morphology
HP:0001679Abnormal aortic morphology
HP:0001702Abnormal tricuspid valve morphology
HP:0002176Spinal cord compression
HP:0002781Upper airway obstruction
HP:0003552Muscle stiffness
HP:0007703Abnormality of retinal pigmentation
HP:0007957Corneal opacity
HP:0008843Hip osteoarthritis
HP:0010656Abnormal epiphyseal ossification
HP:0012185Constrictive median neuropathy
HP:0012478Temporomandibular joint ankylosis
HP:0030466Abnormal full-field electroretinogram
HP:0031416Abnormal nasal mucus secretion
Очень редкий (1–4%)7
HP:0000718Aggressive behavior
HP:0000822Hypertension
HP:0001129Large central visual field defect
HP:0001250Seizure
HP:0011675Arrhythmia
HP:0025160Abnormal temper tantrums
HP:0100710Impulsivity
Эпидемиология27
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.31 | Sweden | Value and class |
| Point prevalence | 1-9 / 100 000 | 9.1 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.43 | Czech Republic | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.71 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.07 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.74 | Australia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.16 | Estonia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 | Canada | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.09 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.64 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.21 | Italy | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 | Netherlands | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.5 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.13 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.4 | Norway | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.27 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.68 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.46 | Poland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.84 | Japan | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.46 | Switzerland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.74 | Korea, Republic of | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.29 | Tunisia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.26 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.37 | Brazil | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.07 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)