Gaucher disease type 3
ORPHA:77261Clinical subtypeAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)9
HP:0000486Strabismus
HP:0000602Ophthalmoplegia
HP:0001298Encephalopathy
HP:0001744Splenomegaly
HP:0002240Hepatomegaly
HP:0002659Increased susceptibility to fractures
HP:0002797Osteolysis
HP:0010885Avascular necrosis
HP:0012378Fatigue
Частый (30–79%)18
HP:0002653Bone pain
HP:0000726Dementia
HP:0000823Delayed puberty
HP:0000938Osteopenia
HP:0001250Seizure
HP:0001251Ataxia
HP:0001288Gait disturbance
HP:0001510Growth delay
HP:0001789Hydrops fetalis
HP:0001873Thrombocytopenia
HP:0001876Pancytopenia
HP:0001903Anemia
HP:0002123Generalized myoclonic seizure
HP:0002750Delayed skeletal maturation
HP:0004963Calcification of the aorta
HP:0007885Slowed horizontal saccades
HP:0010702Increased circulating antibody level
HP:0011001Increased bone mineral density
Периодический (5–29%)13
HP:0000093Proteinuria
HP:0000164Abnormality of the dentition
HP:0000674Anodontia
HP:0000790Hematuria
HP:0001637Abnormal myocardium morphology
HP:0001654Abnormal heart valve morphology
HP:0001698Pericardial effusion
HP:0002092Pulmonary arterial hypertension
HP:0002205Recurrent respiratory infections
HP:0004322Short stature
HP:0004380Aortic valve calcification
HP:0004382Mitral valve calcification
HP:0006530Abnormal pulmonary interstitial morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.05 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)