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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gaucher Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gaucher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gaucher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease

Preferred term

Gaucher Disease  

Type

  • mesh:Descriptor

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.

Broader concept

Related concepts

Synonym(s)

  • Acid beta-Glucosidase Deficiency
  • Acid beta-Glucosidase Deficiency Disease
  • Cerebroside Lipidosis Syndrome
  • Gaucher's Disease
  • Gauchers Disease
  • Gaucher Splenomegaly
  • Gaucher Syndrome
  • Glucocerebrosidase Deficiency
  • Glucocerebrosidase Deficiency Disease
  • Glucocerebrosidosis
  • Glucosylceramidase Deficiency
  • Glucosylceramide Beta-Glucosidase Deficiency
  • Glucosylceramide Beta-Glucosidase Deficiency Disease
  • Glucosylceramide Lipidosis
  • Glucosyl Cerebroside Lipidosis
  • Kerasin Histiocytosis
  • Kerasin Lipoidosis
  • Kerasin thesaurismosis
  • Lipoid Histiocytosis (Kerasin Type)

Allowable Qualifier(s)

In other languages

  • Maladie de Gaucher

    French

  • Déficit en bêta-glucocérébrosidase
  • Sphingolipidose héréditaire de Gaucher

URI

http://data.loterre.fr/ark:/67375/JVR-HLT6W05B-B

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