Gaucher disease type 1
ORPHA:77259Clinical subtypeAutosomal recessiveAll ages
Ассоциированные гены2
Фенотипы (HPO)49
Очень частый (80–99%)13
HP:0000823Delayed puberty
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001510Growth delay
HP:0001744Splenomegaly
HP:0001971Hypersplenism
HP:0002039Anorexia
HP:0002240Hepatomegaly
HP:0002653Bone pain
HP:0002750Delayed skeletal maturation
HP:0002797Osteolysis
HP:0003656Decreased beta-glucocerebrosidase level
HP:0010885Avascular necrosis
Частый (30–79%)10
HP:0000225Gingival bleeding
HP:0000978Bruising susceptibility
HP:0001433Hepatosplenomegaly
HP:0001873Thrombocytopenia
HP:0001876Pancytopenia
HP:0001903Anemia
HP:0001928Abnormality of coagulation
HP:0002027Abdominal pain
HP:0003281Increased circulating ferritin concentration
HP:0031830Pinguecula
Периодический (5–29%)22
HP:0000716Depression
HP:0000790Hematuria
HP:0001081Cholelithiasis
HP:0001409Portal hypertension
HP:0001541Ascites
HP:0001882Leukopenia
HP:0001892Abnormal bleeding
HP:0002092Pulmonary arterial hypertension
HP:0002176Spinal cord compression
HP:0002756Pathologic fracture
HP:0002758Osteoarthritis
HP:0002953Vertebral compression fracture
HP:0003233Decreased HDL cholesterol concentration
HP:0004322Short stature
HP:0004975Erlenmeyer flask deformity of the femurs
HP:0005230Biliary tract obstruction
HP:0006530Abnormal pulmonary interstitial morphology
HP:0006775Multiple myeloma
HP:0007141Sensorimotor neuropathy
HP:0010702Increased circulating antibody level
HP:0032640Elevated circulating CCL18 level
HP:0034336Splenic infarction
Очень редкий (1–4%)4
HP:0001300Parkinsonism
HP:0001394Cirrhosis
HP:0001399Hepatic failure
HP:0012223Splenic rupture
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.48 | Italy | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)