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تعداد ایتم قابل مشاهده باقیمانده : 3 مورد
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Gaucher disease classification

Gaucher disease classification
  Type 1 Type 2 Type 3a Type 3b Type 3c
Onset Childhood to adult First months Childhood Childhood Childhood
Hematologic Anemia, thrombocytopenia Thrombocytopenia Anemia More severe anemia and thrombocytopenia Minimal
Skeletal Osteopenia, osteosclerosis, bone pain/crises Minimal Osteopenia, osteosclerosis Severe skeletal findings, including vertebral compression fractures and osteonecrosis of the long bones Minimal
Neurologic Parkinson disease, may have peripheral neuropathy Strabismus, generalized seizures, hypertonia, apnea, impaired swallow, stridor, progressive loss of milestones Progressive dementia, ataxia, and myoclonus; slowed horizontal saccades Slowed horizontal saccades Slowed horizontal saccades; can have hydrocephalus
Other systems Hepatosplenomegaly, hepatic fibrosis, interstitial lung disease, pulmonary hypertension, hematologic malignancies, delayed growth and puberty Hepatosplenomegaly, congenital ichthyosis  Variable

Hepatosplenomegaly, thoracic lymph node enlargement, pulmonary infiltrates, development of "gaucheromas" or bone cysts, kyphosis/scoliosis

Cardiac and vascular calcifications, mild splenomegaly; can have corneal opacities
Progression Slow or none Rapid Variable Variable Variable
Pathogenic variant association Diverse
c.1226A>G (N370S allele)
Diverse Diverse Diverse c.1342G>C (homozygosity for D409H)
Ethnic predilection More common in Ashkenazi Jews Panethnic Panethnic Panethnic Panethnic
Graphic 56005 Version 10.0