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Hierarchy  - English - French - German - Spanish - Portuguese - Italian - Dutch    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 RETICULOENDOTHELIAL 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 / Glucocerebrosidase Deficiency Disease / Glucosylceramide Beta-Glucosidase Deficiency Disease / Neuronopathic Gaucher Disease / See also: Glucosylceramidase    MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

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 © Genetics Home Reference Browse - New search       Web resources for "Gaucher Disease"   English (34)  French (7)  German (1)  Spanish (3)    Italian (2)   = Site with HON description   -   = Site with a robot description info: enter the site: (click below) domain of the site:   Gaucher Disease Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com www.wrongdiagnosis.com 2 Lymphland's more articles on lymphedema www.lymphland.com   HONcode - Gaucher disease - Genetics Home Reference ghr.nlm.nih.gov 7 HONcode - http://www.healthatoz.com/healthatoz/Ato... www.healthatoz.com 2 BBC - Health: Gaucher disease www.bbc.co.uk   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 15 Gaucher Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS) www.ninds.nih.gov 3 HONcode - Orphanet: Gaucher disease type 3 www.orpha.net 9 Pages - Home www.lsdregistry.net 10 HONcode - Gaucher's Disease: MedlinePlus www.nlm.nih.gov 2 rare-diseases — National Organization for Rare Disorders www.rarediseases.org   next results See also: - Glucosylceramidase Broader term(s): - Sphingolipidoses - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Reticuloendotheliosis - Lymphoma - Neoplasms Browse - New search       Medical image(s) for "Gaucher Disease" click below to enlarge www.gaucher.org.uk Gauchers Association UK How genes for glucocerebrosidase are passed on Copyright © 1991 Genzyme Corporation click below to enlarge www.ncbi.nlm.nih.gov Copyright © NCBI - Genes and Disease Gaucher's Disease (Chromosome 1) Broader term(s): - Brain Diseases, Metabolic - Brain Diseases - Lymphoma - Neoplasms Browse - New search       Medical News for "Gaucher Disease" No results for this term. More health news Broader term(s): - Nervous System Diseases - Lymphoma - Neoplasms Browse - New search       Scientific articles from MEDLINE for "Gaucher Disease"   - English - French - German - Spanish - Portuguese - Italian - Dutch     All recent articles  Therapy:  by recall    /  by precision  Diagnosis:  by recall    /  by precision  Etiology:  by recall    /  by precision  Prognosis:  by recall    /  by precision Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy Browse - New search       Clinical Trials for "Gaucher Disease" ClinicalTrials.gov - Linking patients to medical research Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. A Study of the Efficacy and Safety of Genz-112638 in Type 1 Gaucher Patients A Long-Term Extension Study of AT2101 in Type 1 Gaucher Patients International Collaborative Gaucher Group (ICGG) Gaucher Registry Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease   More results See also: - Glucosylceramidase Broader term(s): - Sphingolipidoses - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Lymphoma - Neoplasms Browse - New search       Medical Conferences/Events for "Gaucher Disease" No results for this term. Consult HON's world-wide database of medical meetings Browse - New search       Refine the search for  "Gaucher Disease" Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy   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           Hemic and Lymphatic Diseases               Lymphatic Diseases                   Reticuloendotheliosis        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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