Gaucher disease
ORPHA:355DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)93
Очень частый (80–99%)5
HP:0001744Splenomegaly
HP:0001903Anemia
HP:0002240Hepatomegaly
HP:0003656Decreased beta-glucocerebrosidase level
HP:0012378Fatigue
Частый (30–79%)30
HP:0000486Strabismus
HP:0000716Depression
HP:0000823Delayed puberty
HP:0000924Abnormality of the skeletal system
HP:0000938Osteopenia
HP:0001081Cholelithiasis
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001373Joint dislocation
HP:0001510Growth delay
HP:0001873Thrombocytopenia
HP:0001882Leukopenia
HP:0001945Fever
HP:0002015Dysphagia
HP:0002027Abdominal pain
HP:0002069Bilateral tonic-clonic seizure
HP:0002123Generalized myoclonic seizure
HP:0002376Developmental regression
HP:0002653Bone pain
HP:0002750Delayed skeletal maturation
HP:0002757Recurrent fractures
HP:0002829Arthralgia
HP:0003281Increased circulating ferritin concentration
HP:0003330Abnormal bone structure
HP:0004975Erlenmeyer flask deformity of the femurs
HP:0008872Feeding difficulties in infancy
HP:0010885Avascular necrosis
HP:0032640Elevated circulating CCL18 level
HP:0100022Abnormality of movement
HP:6000213Elevated circulating Angiotensin-converting enzyme concentration
Периодический (5–29%)55
HP:0001928Abnormality of coagulation
HP:0002071Abnormality of extrapyramidal motor function
HP:0002092Pulmonary arterial hypertension
HP:0002093Respiratory insufficiency
HP:0002119Ventriculomegaly
HP:0002179Opisthotonus
HP:0002206Pulmonary fibrosis
HP:0002754Osteomyelitis
HP:0002756Pathologic fracture
HP:0002758Osteoarthritis
HP:0002797Osteolysis
HP:0002804Arthrogryposis multiplex congenita
HP:0002808Kyphosis
HP:0003233Decreased HDL cholesterol concentration
HP:0003459Polyclonal elevation of IgM
HP:0004322Short stature
HP:0004374Hemiplegia/hemiparesis
HP:0004380Aortic valve calcification
HP:0004382Mitral valve calcification
HP:0006530Abnormal pulmonary interstitial morphology
HP:0006775Multiple myeloma
HP:0006824Cranial nerve paralysis
HP:0007141Sensorimotor neuropathy
HP:0007957Corneal opacity
HP:0008064Ichthyosis
HP:0010702Increased circulating antibody level
HP:0010729Cherry red spot of the macula
HP:0011001Increased bone mineral density
HP:0011227Elevated circulating C-reactive protein concentration
HP:0012115Hepatitis
HP:0031047Paraproteinemia
HP:0000093Proteinuria
HP:0000225Gingival bleeding
HP:0000238Hydrocephalus
HP:0000365Hearing impairment
HP:0000488Retinopathy
HP:0000657Oculomotor apraxia
HP:0000726Dementia
HP:0000790Hematuria
HP:0000939Osteoporosis
HP:0001000Abnormality of skin pigmentation
HP:0001103Abnormal macular morphology
HP:0001252Hypotonia
HP:0001300Parkinsonism
HP:0001337Tremor
HP:0001387Joint stiffness
HP:0001394Cirrhosis
HP:0001395Hepatic fibrosis
HP:0001522Death in infancy
HP:0001637Abnormal myocardium morphology
HP:0001654Abnormal heart valve morphology
HP:0001697Abnormal pericardium morphology
HP:0001789Hydrops fetalis
HP:0001876Pancytopenia
HP:0001892Abnormal bleeding
Очень редкий (1–4%)3
HP:0001399Hepatic failure
HP:0012223Splenic rupture
HP:0034336Splenic infarction
Эпидемиология16
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.7 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.3 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.67 | Spain | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.7 | Austria | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.6 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.74 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.7 | Australia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.13 | Czech Republic | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.35 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.16 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.5 | Hungary | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.45 | Turkey | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.11 | Sweden | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.224 | China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)