Gaucher Disease

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Is a:
  • Disease or Syndrome
Definition:
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (glucosylceramidase) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the mononuclear phagocyte system. The characteristic Gaucher cells, glycosphingolipid-filled histiocytes, displace normal cells in bone marrow and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. This type shows moderate to severe neurological effect in childhood. This type afflicts both children and adults who show no neurological effect. It is more prevalent in people of Ashkenazi Jewish ancestry. This type usually shows severe neurological effect in the first year of life.
Synonyms:
  • Acid beta Glucosidase Deficiency Disease
  • Acid beta-Glucosidase Deficiency Disease
  • Acute Neuronopathic Gaucher Disease
  • Cerebroside Lipidosis Syndrome
  • Chronic Gaucher Disease
  • Gaucher Disease, Acute Neuronopathic
  • Gaucher Disease, Chronic
  • Gaucher Disease, Infantile
  • Gaucher Disease, Juvenile
  • Gaucher Disease, Neuronopathic
  • Gaucher Disease, Non Neuronopathic Form
  • Gaucher Disease, Non-Neuronopathic
  • Gaucher Disease, Non-Neuronopathic Form
  • Gaucher Disease, Subacute Neuronopathic Form
  • Gaucher Disease, Type 1
  • Gaucher Disease, Type 2
  • Gaucher Disease, Type 3
  • Gaucher's Disease
  • Gauchers Disease
  • Glucocerebrosidase Deficiency Disease
  • Glucocerebrosidase Deficiency Diseases
  • Glucosylceramide Beta Glucosidase Deficiency Disease
  • Glucosylceramide Beta-Glucosidase Deficiency Disease
  • Infantile Gaucher Disease
  • Juvenile Gaucher Disease
  • Neuronopathic Gaucher Disease
  • Non Neuronopathic Gaucher Disease
  • Non-Neuronopathic Gaucher Disease
  • Subacute Neuronopathic Gaucher Disease
  • Type 1 Gaucher Disease
  • Type 2 Gaucher Disease
  • Type 3 Gaucher Disease
Broader Topics:
Narrower Topics:
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