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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.

Synonym(s): Cerebroside Lipidosis Syndrome / Gaucher Disease Type 1 / Gaucher Disease Type 2 / Glucocerebrosidase Deficiency Disease / Glucosylceramide Beta-Glucosidase Deficiency Disease / Neuronopathic Gaucher Disease / Acid beta-Glucosidase Deficiency Disease / Acute Neuronopathic Gaucher Disease / Chronic Gaucher Disease / Gaucher Disease Type 3 / Gaucher Disease, Acute Neuronopathic / Gaucher Disease, Chronic / Gaucher Disease, Infantile / Gaucher Disease, Juvenile / Gaucher Disease, 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 / Infantile Gaucher Disease / Non-Neuronopathic Gaucher Disease / Subacute Neuronopathic Gaucher Disease / Type 1 Gaucher Disease / Type 2 Gaucher Disease / Type 3 Gaucher Disease / Acid beta Glucosidase Deficiency Disease / Cerebroside Lipidosis Syndromes / Deficiency Disease, Glucocerebrosidase / Deficiency Diseases, Glucocerebrosidase / Disease, Chronic Gaucher / Disease, Gaucher / Disease, Gaucher's / Disease, Glucocerebrosidase Deficiency / Disease, Infantile Gaucher / Disease, Juvenile Gaucher / Disease, Neuronopathic Gaucher / Disease, Non-Neuronopathic Gaucher / Diseases, Glucocerebrosidase Deficiency / Gaucher Disease, Non Neuronopathic Form / Gaucher Disease, Non-Neuronopathic / Gauchers Disease / Glucocerebrosidase Deficiency Diseases / Glucosylceramide Beta Glucosidase Deficiency Disease / Juvenile Gaucher Disease / Lipidosis Syndrome, Cerebroside / Lipidosis Syndromes, Cerebroside / Non Neuronopathic Gaucher Disease / Syndrome, Cerebroside Lipidosis / Syndromes, Cerebroside Lipidosis
See also:
Glucosylceramidase   

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Gaucher disease?
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside.
Genetic changes are related to the following types of Gaucher disease.

Gaucher disease, type 1
Gaucher disease, type 2
Gaucher disease, type 3
Gaucher-like disease

The signs and symptoms of Gaucher disease vary widely among affected individuals. The major features of this disorder include enlargement of the liver and spleen (hepatosplenomegal ...

How common is Gaucher disease?
This disease is seen in 1 in 50,000 to 100,000 people in the general population. Type 1 Gaucher disease is the most common form of the disorder, and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The disorder affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. Types 2 and 3 Gaucher disease and Gaucher-like disease are uncommon, and do not occur more frequently in people of Ashkenazi Jewish descent.


More information from the Genetics Home Reference Website
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  Web resources for "Gaucher Disease"
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view the robot description of the site Gaucher Disease Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comwww.wrongdiagnosis.com 2
view the robot description of the site Lymphland's more articles on lymphedemawww.lymphland.com 2
view the HON description of the site HONcode - Gaucher disease - Genetics Home Referenceghr.nlm.nih.gov 9
view the HON description of the site HONcode - Gaucher Disease: Causes, Symptoms, and Treatmentwww.webmd.com  
view the robot description of the site Gaucher Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 4
view the robot description of the site BBC - Health: Gaucher disease www.bbc.co.uk 2
view the HON description of the site HONcode - Shire to Present Important Study Findings for Gaucher Disease Treatment and GLD Development Program at the Lysosomal Disease Network (LDN) World Symposium - Dru...www.drugs.com 10
view the HON description of the site HONcode - Orphanet: Gaucher disease type 2www.orpha.net 16
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view the HON description of the site HONcode - Gaucher's Disease: MedlinePluswww.nlm.nih.gov 2
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
view the HON description of the site HONcode - Shire Receives Fast Track Designation for velaglucerase alfa for Gaucher Disease - News Press Release | PharmiWeb.comwww.pharmiweb.com  
view the HON description of the site HONcode - Gaucher's disease - MayoClinic.comwww.mayoclinic.com 2
view the robot description of the site Gauchers Association - Information and Support for those affected by Gaucher Diseasewww.gaucher.org.uk  
view the HON description of the site HONcode - Gaucher diseasewww.healthcentral.com  
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See also: - Glucosylceramidase

Broader term(s): - Sphingolipidoses - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases
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  Medical image(s) for "Gaucher Disease"
click below to enlargeGaucher's Disease (Chromosome 1)
www.ncbi.nlm.nih.gov
Copyright © NCBI - Genes and Disease Gaucher's Disease (Chromosome 1)
Broader term(s): - Nervous System Diseases
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Broader term(s): - Nervous System Diseases

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  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors
                      Lysosomal Storage Diseases
                          Lysosomal Storage Diseases, Nervous System
                              Sphingolipidoses 
                      Lipid Metabolism, Inborn Errors
                          Lipidoses
                              Sphingolipidoses 
                      Brain Diseases, Metabolic, Inborn
                          Lysosomal Storage Diseases, Nervous System
                              Sphingolipidoses 
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Lipid Metabolism Disorders
                      Lipidoses
                          Sphingolipidoses 
                  Brain Diseases, Metabolic
                      Brain Diseases, Metabolic, Inborn
                          Lysosomal Storage Diseases, Nervous System
                              Sphingolipidoses 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Metabolism, Inborn Errors
                      Lysosomal Storage Diseases
                          Lysosomal Storage Diseases, Nervous System
                              Sphingolipidoses 
                      Lipid Metabolism, Inborn Errors
                          Lipidoses
                              Sphingolipidoses 
                      Brain Diseases, Metabolic, Inborn
                          Lysosomal Storage Diseases, Nervous System
                              Sphingolipidoses 
      Diseases
          Nervous System Diseases
              Central Nervous System Diseases
                  Brain Diseases
                      Brain Diseases, Metabolic
                          Brain Diseases, Metabolic, Inborn
                              Lysosomal Storage Diseases, Nervous System
                                  Sphingolipidoses 

MeSH 2010 © U.S. National Library of Medicine®.

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