Gaucher Disease

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.

Also Known As:

Gaucher's Disease; Gaucher Disease, Type 1; Gaucher Disease, Type 2; Gaucher Disease, Type 3; Gauchers Disease; Infantile Gaucher Disease; Non-Neuronopathic Gaucher Disease; Subacute Neuronopathic Gaucher Disease; Type 2 Gaucher Disease; Type 3 Gaucher Disease; Cerebroside Lipidosis Syndrome; Acid beta-Glucosidase Deficiency; Acid beta-Glucosidase Deficiency Disease; Acute Neuronopathic Gaucher Disease; Chronic Gaucher Disease; GBA Deficiency; Gaucher Disease Type 3; Gaucher Disease, Acute Neuronopathic; Gaucher Disease, Acute Neuronopathic Type; Gaucher Disease, Chronic; Gaucher Disease, Chronic Neuronopathic Type; Gaucher Disease, Infantile; Gaucher Disease, Infantile Cerebral; Gaucher Disease, Juvenile; Gaucher Disease, Juvenile and Adult, Cerebral; Gaucher Disease, Neuronopathic; Gaucher Disease, Non-Neuronopathic Form; Gaucher Disease, Noncerebral Juvenile; Gaucher Disease, Subacute Neuronopathic Form; Gaucher Disease, Subacute Neuronopathic Type; Gaucher Disease, Type I; Gaucher Disease, Type II; Gaucher Disease, Type III; Gaucher Splenomegaly; Gaucher Syndrome; Glucocerebrosidase Deficiency; Glucocerebrosidosis; Glucosyl Cerebroside Lipidosis; Glucosylceramidase Deficiency; Glucosylceramide Beta-Glucosidase Deficiency; Glucosylceramide Lipidosis; Kerasin Histiocytosis; Kerasin Lipoidosis; Kerasin thesaurismosis; Lipoid Histiocytosis (Kerasin Type); Type 1 Gaucher Disease; Cerebroside Lipidoses, Glucosyl; Cerebroside Lipidosis Syndromes; Cerebroside Lipidosis, Glucosyl; Deficiencies, GBA; Deficiencies, Glucocerebrosidase; Deficiency Disease, Glucocerebrosidase; Deficiency Diseases, Glucocerebrosidase; Deficiency, GBA; Deficiency, Glucocerebrosidase; Disease, Chronic Gaucher; Disease, Gaucher; Disease, Gaucher's; Disease, Gauchers; Disease, Glucocerebrosidase Deficiency; Disease, Infantile Gaucher; Disease, Juvenile Gaucher; Disease, Neuronopathic Gaucher; Disease, Non-Neuronopathic Gaucher; Diseases, Gauchers; Diseases, Glucocerebrosidase Deficiency; GBA Deficiencies; Gaucher Disease, Non Neuronopathic Form; Gaucher Disease, Non-Neuronopathic; Gauchers Diseases; Glucocerebrosidase Deficiencies; Glucocerebrosidase Deficiency Diseases; Glucocerebrosidoses; Glucosyl Cerebroside Lipidoses; Glucosylceramide Lipidoses; Histiocytoses, Kerasin; Histiocytoses, Lipoid (Kerasin Type); Histiocytosis, Kerasin; Histiocytosis, Lipoid (Kerasin Type); Juvenile Gaucher Disease; Kerasin Histiocytoses; Kerasin Lipoidoses; Kerasin thesaurismoses; Lipidoses, Glucosyl Cerebroside; Lipidoses, Glucosylceramide; Lipidosis Syndrome, Cerebroside; Lipidosis Syndromes, Cerebroside; Lipidosis, Glucosyl Cerebroside; Lipidosis, Glucosylceramide; Lipoid Histiocytoses (Kerasin Type); Lipoidoses, Kerasin; Lipoidosis, Kerasin; Non Neuronopathic Gaucher Disease; Splenomegaly, Gaucher; Syndrome, Cerebroside Lipidosis; Syndrome, Gaucher; Syndromes, Cerebroside Lipidosis; thesaurismoses, Kerasin; thesaurismosis, Kerasin; Gaucher Disease Type 1

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gaucher Disease: 3212
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gaucher Disease: 3212
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gaucher Disease: 3212
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Gaucher Disease: 3212
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gaucher Disease: 3212
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gaucher Disease: 3212
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Gaucher Disease: 3212
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Gaucher Disease: 3212
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Gaucher Disease: 3212

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