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Disease Gaucher Disease

Name Gaucher Disease
Synonyms Acid beta-Glucosidase Deficiency | Acid beta-Glucosidase Deficiency Disease | Acute Neuronopathic Gaucher Disease | Cerebroside Lipidoses, Glucosyl | Cerebroside Lipidosis, Glucosyl | Cerebroside Lipidosis Syndrome | Cerebroside Lipidosis Syndromes | Chronic Gaucher Disease | Deficiencies, GBA | Deficiencies, Glucocerebrosidase | Deficiency Disease, Glucocerebrosidase | Deficiency Diseases, Glucocerebrosidase | Deficiency, GBA | Deficiency, Glucocerebrosidase | Disease, Chronic Gaucher | Disease, Gaucher | Disease, Gauchers | Disease, Gaucher's | Disease, Glucocerebrosidase Deficiency | Disease, Infantile Gaucher | Disease, Juvenile Gaucher | Disease, Neuronopathic Gaucher | Disease, Non-Neuronopathic Gaucher | Diseases, Gauchers | Diseases, Glucocerebrosidase Deficiency | 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, JUVENILE AND ADULT, CEREBRAL GAUCHER DISEASE, TYPE IIIA, INCLUDED | Gaucher Disease, Neuronopathic | Gaucher Disease, Noncerebral Juvenile | Gaucher Disease, Non-Neuronopathic | Gaucher Disease, Non Neuronopathic Form | Gaucher Disease, Non-Neuronopathic Form | GAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED | Gaucher Disease, Subacute Neuronopathic Form | Gaucher Disease, Subacute Neuronopathic Type | Gaucher Disease Type 1 | Gaucher Disease, Type 1 | Gaucher Disease Type 2 | Gaucher Disease, Type 2 | Gaucher Disease Type 3 | Gaucher Disease, Type 3 | Gaucher Disease, Type I | Gaucher Disease, Type II | Gaucher Disease, Type III | GAUCHER DISEASE, TYPE IIIB, INCLUDED | Gaucher's Disease | Gauchers Disease | Gauchers Diseases | Gaucher Splenomegaly | Gaucher Syndrome | GBA Deficiencies | GBA Deficiency | GD I | GD II | GD III | 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) | Infantile Gaucher Disease | Juvenile Gaucher Disease | 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 | Neuronopathic Gaucher Disease | Non Neuronopathic Gaucher Disease | Non-Neuronopathic Gaucher Disease | Splenomegaly, Gaucher | Subacute Neuronopathic Gaucher Disease | Syndrome, Cerebroside Lipidosis | Syndrome, Gaucher | Syndromes, Cerebroside Lipidosis | thesaurismoses, Kerasin | thesaurismosis, Kerasin | Type 1 Gaucher Disease | Type 2 Gaucher Disease | Type 3 Gaucher Disease
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.
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D005776
OMIM® IDs 230800 | 230900 | 231000
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gaucher Disease Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gaucher Disease Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gaucher Disease Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gaucher Disease Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gaucher Disease Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gaucher Disease Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gaucher Disease Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gaucher Disease Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gaucher Disease Has associated chemicals Has associated genes

Top ↑ Descendants

Gaucher Disease Has associated chemicals Has associated genes
  Acute cerebral Gaucher disease
  Gaucher Disease, Atypical, Due To Saposin C Deficiency Has associated chemicals Has associated genes
  Gaucher Disease, Norrbottnian Type
  Gaucher Disease, Perinatal Lethal Has associated chemicals Has associated genes
  Gaucher Disease, Type IIIa
  Gaucher Disease, Type IIIb
  Gaucher Disease, Type Iiic Has associated chemicals Has associated genes
  Gaucher-like disease