Gaucher disease

Gaucher's disease or Gaucher disease () (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. [Source: Wikipedia ]

OrphaNet reference
Gaucher disease 
Is A
Lysosomal storage disease
May Cause
Aortic stenosis
Ascites in an infant or child
Avascular necrosis
Biconcave vertebra
Bilateral large kidneys
Bone infarct
Broad tubular bones
Congenital cardiomyopathy
Congenital generalized osteoporosis
Congenital heart disease
Congenital hepatomegaly
Congenital splenomegaly
Congenital widespread osteosclerosis
Cortical bone thickening
Degenerative joint changes
Endplate infarction
Epiphyseal necrosis
Erlenmeyer flask deformity
Esophageal varices
Flat femoral head
Floating teeth
Fragmented femoral head
Fragmented or irregular femoral head
Generalized osteopenia or osteolysis of the jaws
Generalized osteoporosis
Hydrops fetalis
Hyperechoic liver
Intermediate T1 intensity diffuse vertebral body abnormality
Interstitial lung fibrosis
Large anterior canal of a vertebral body
Large destructive bone lesion
Long rib lesion
Loss of inner cortical bone margin
Lytic skeletal lesion
Medial proximal metaphyseal erosion of the long bones
Miliary lung opacities
Mitral insufficiency
Mitral stenosis
Multiple collapsed vertebrae
Multiple expanding rib lesions
Multiple fractures
Multiple osteosclerotic bone lesions
Multiple pulmonary nodules
Multiple radiolucent bone lesions
Multiple well-defined radiolucent jaw lesions
Pathologic fracture
Periapical radiolucency in jaw
Periosteal new bone formation in a child
Polyostotic bone lesions in adults
Polyostotic bone lesions in children
Portal hypertension
Radiolucent skull lesion
Sacroiliac joint disease
Short rib lesion
Skin pigment abnormality
Slipped capital femoral epiphysis
Solitary bone lesion with expansile remodeling
Solitary osteolytic skull lesion
Spinal osteopenia
Split cortex
Thick ribs
Wide diametaphysis
Wide intervertebral disk space
Wide metaphysis
Widespread areas of bone destruction
Widespread cortical bone thinning
Widespread demineralization with coarse trabeculation
Widespread osteosclerosis
Widespread periosteal reaction
Widespread predominantly medullary osteosclerosis
Widespread small irregular lung opacities
May Be Caused by
Gaucher disease - ophthalmoplegia - cardiovascular calcification