Mucolipidosis type II
ORPHA:576DiseaseAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)63
Очень частый (80–99%)13
HP:0000212Gingival overgrowth
HP:0000280Coarse facial features
HP:0001072Thickened skin
HP:0001270Motor delay
HP:0001537Umbilical hernia
HP:0001538Protuberant abdomen
HP:0001609Hoarse voice
HP:0002474Expressive language delay
HP:0004322Short stature
HP:0006596Restricted chest movement
HP:0008897Postnatal growth retardation
HP:0030680Abnormal cardiovascular system morphology
HP:0031650Abnormal atrioventricular valve physiology
Частый (30–79%)16
HP:0000388Otitis media
HP:0000405Conductive hearing impairment
HP:0000774Narrow chest
HP:0001363Craniosynostosis
HP:0001376Limitation of joint mobility
HP:0001633Abnormal mitral valve morphology
HP:0001653Mitral regurgitation
HP:0002091Restrictive ventilatory defect
HP:0002465Poor speech
HP:0002540Inability to walk
HP:0002870Obstructive sleep apnea
HP:0005280Depressed nasal bridge
HP:0010444Pulmonary insufficiency
HP:0012368Flat face
HP:0045027Abnormality of the thoracic cavity
HP:0100543Cognitive impairment
Периодический (5–29%)30
HP:0000023Inguinal hernia
HP:0000286Epicanthus
HP:0000586Shallow orbits
HP:0001433Hepatosplenomegaly
HP:0001540Diastasis recti
HP:0001562Oligohydramnios
HP:0001638Cardiomyopathy
HP:0001646Abnormal aortic valve morphology
HP:0001655Patent foramen ovale
HP:0001659Aortic regurgitation
HP:0001712Left ventricular hypertrophy
HP:0001762Talipes equinovarus
HP:0001824Weight loss
HP:0002205Recurrent respiratory infections
HP:0002213Fine hair
HP:0002808Kyphosis
HP:0002827Hip dislocation
HP:0003273Hip contracture
HP:0005487Prominent metopic ridge
HP:0006203Decreased movement range in interphalangeal joints
HP:0006248Limited wrist movement
HP:0006380Knee flexion contracture
HP:0006467Limited shoulder movement
HP:0007421Telangiectases of the cheeks
HP:0008936Axial hypotonia
HP:0010307Stridor
HP:0011314Abnormality of long bone morphology
HP:0011359Dry hair
HP:0011364White hair
HP:0012389Appendicular hypotonia
Очень редкий (1–4%)4
HP:0000407Sensorineural hearing impairment
HP:0001744Splenomegaly
HP:0004887Respiratory failure requiring assisted ventilation
HP:0011471Gastrostomy tube feeding in infancy
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 | Europe | Value and class |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.81 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.16 | Netherlands | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 16.2 | Specific population | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.05 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)