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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > 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
... > 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 > Lysosomal Storage Diseases > 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 > 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
... > 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 > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease

Preferred term

Gaucher Disease  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Acid beta-Glucosidase Deficiency
  • Acid beta-Glucosidase Deficiency Disease
  • Cerebroside Lipidoses, Glucosyl
  • Cerebroside Lipidosis, Glucosyl
  • Cerebroside Lipidosis Syndrome
  • Cerebroside Lipidosis Syndromes
  • Deficiencies, Glucocerebrosidase
  • Deficiency Disease, Glucocerebrosidase
  • Deficiency Diseases, Glucocerebrosidase
  • Deficiency, Glucocerebrosidase
  • Disease, Gaucher's
  • Disease, Gauchers
  • Disease, Glucocerebrosidase Deficiency
  • Diseases, Gauchers
  • Diseases, Glucocerebrosidase Deficiency
  • Gaucher's Disease
  • Gauchers Disease
  • Gauchers Diseases
  • Gaucher Splenomegaly
  • Gaucher Syndrome
  • Glucocerebrosidase Deficiencies
  • Glucocerebrosidase Deficiency
  • Glucocerebrosidase Deficiency Disease
  • Glucocerebrosidase Deficiency Diseases
  • Glucocerebrosidoses
  • Glucocerebrosidosis
  • Glucosylceramidase Deficiency
  • Glucosylceramide Beta-Glucosidase Deficiency
  • Glucosylceramide Beta-Glucosidase Deficiency Disease
  • Glucosylceramide Lipidoses
  • Glucosylceramide Lipidosis
  • Glucosyl Cerebroside Lipidoses
  • Glucosyl Cerebroside Lipidosis
  • Histiocytoses, Kerasin
  • Histiocytoses, Lipoid (Kerasin Type)
  • Histiocytosis, Kerasin
  • Histiocytosis, Lipoid (Kerasin Type)
  • Kerasin Histiocytoses
  • Kerasin Histiocytosis
  • Kerasin Lipoidoses
  • Kerasin Lipoidosis
  • Kerasin thesaurismoses
  • Kerasin thesaurismosis
  • Lipidoses, Glucosylceramide
  • Lipidoses, Glucosyl Cerebroside
  • Lipidosis, Glucosylceramide
  • Lipidosis, Glucosyl Cerebroside
  • Lipidosis Syndrome, Cerebroside
  • Lipidosis Syndromes, Cerebroside
  • Lipoid Histiocytoses (Kerasin Type)
  • Lipoid Histiocytosis (Kerasin Type)
  • Lipoidoses, Kerasin
  • Lipoidosis, Kerasin
  • Splenomegaly, Gaucher
  • Syndrome, Cerebroside Lipidosis
  • Syndrome, Gaucher
  • Syndromes, Cerebroside Lipidosis
  • thesaurismoses, Kerasin
  • thesaurismosis, Kerasin

Scope note

  • 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.

History note

  • 2000(1966)

In other languages

URI

http://www.yso.fi/onto/mesh/D005776

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