Fucosidosis
ORPHA:349DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)17
HP:0000248Brachycephaly
HP:0000280Coarse facial features
HP:0000365Hearing impairment
HP:0000821Hypothyroidism
HP:0000943Dysostosis multiplex
HP:0000975Hyperhidrosis
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001999Abnormal facial shape
HP:0002240Hepatomegaly
HP:0002808Kyphosis
HP:0005595Generalized hyperkeratosis
HP:0008155Mucopolysacchariduria
HP:0008430Anterior beaking of lumbar vertebrae
HP:0010864Intellectual disability, severe
HP:0011220Prominent forehead
HP:0100578Lipoatrophy
Частый (30–79%)9
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001626Abnormality of the cardiovascular system
HP:0002510Spastic tetraplegia
HP:0003199Decreased muscle mass
HP:0005264Abnormality of the gallbladder
HP:0007957Corneal opacity
HP:0011276Vascular skin abnormality
Периодический (5–29%)5
HP:0000164Abnormality of the dentition
HP:0001063Acrocyanosis
HP:0001597Abnormality of the nail
HP:0001640Cardiomegaly
HP:0007256Abnormal pyramidal sign
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 161 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | 0.06 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.63 | Cuba | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)