Introduction: Gaucher Disease
Gaucher Disease: Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. (Source: Genes and Disease by the National Center for Biotechnology) ... more about Gaucher Disease.
Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. More detailed information about the symptoms, causes, and treatments of Gaucher Disease is available below.
Symptoms of Gaucher Disease
- Symptoms of Type 1 Gaucher Disease:
- Symptoms may appear early in childhood or in adulthood
- Anemia
- Fatigue
- Bruising easily
See full list of 26 symptoms of Gaucher Disease
Medical Textbooks Online about Gaucher Disease
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Book excerpts: Copyright © 2007 Lippincott Williams & Wilkins. All rights reserved.
Wrongly Diagnosed with Gaucher Disease?
Causes of Gaucher Disease
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Treatments for Gaucher Disease
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Videos for Gaucher Disease
Your Rights as a Patient
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Poor Sleep's Effect on Health
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Patient Surveys for Gaucher Disease
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Prognosis for Gaucher Disease
Prognosis for Gaucher Disease: There is no permanent cure for Gaucher’s. Enzyme replacement therapy is very beneficial for type 1 patients and most of the type 3 patients with this condition. (Source: excerpt from NINDS Gaucher's Disease Information Page: NINDS)
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Reseach about Gaucher Disease
Visit our research pages for current research about Gaucher Disease treatments.
Clinical Trials for Gaucher Disease
The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Gaucher Disease include:
- A Study of the Efficacy and Safety of Genz-112638 in Type 1 Gaucher Patients - This study is currently recruiting patients (Current: 23 Nov 2006) - Genz-112638
- Safety and Efficacy of Cerezyme Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease - This study is no longer recruiting patients (Current: 23 Nov 2006) - Cerezyme
- A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. - This study has been completed (Current: 23 Nov 2006) - Cerezyme (imiglucerase for injection)
- International Collaborative Gaucher Registry (ICGG) - This study is currently recruiting patients (Current: 23 Nov 2006)
- Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease - This study is currently recruiting patients (Current: 23 Nov 2006)
See full list of 24 Clinical Trials for Gaucher Disease
Statistics for Gaucher Disease
- Medical statistics for Gaucher Disease
- Prevalence and incidence statistics for Gaucher Disease
- Death and Mortality statistics for Gaucher Disease
- Society statistics for Gaucher Disease
Types of Gaucher Disease
- Type 1 adult Gaucher disease - most common; adult Gaucher disease, or chronic non-neuronopathic
- Type 2 infantile Gaucher disease - infantile, or acute neuronopathic
- Type 3 juvenile Gaucher disease - juvenile, or subacute neuronopathic
Read more about Types of Gaucher Disease
Medical Guidebooks and Ebooks for Gaucher Disease
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Article Excerpts about Gaucher Disease
Genes and Disease by the National Center for Biotechnology (Excerpt)
Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. (Source: Genes and Disease by the National Center for Biotechnology)
NINDS Gaucher's Disease Information Page: NINDS (Excerpt)
Gaucher’s disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and, in rare cases, the brain. (Source: excerpt from NINDS Gaucher's Disease Information Page: NINDS)
Wiki article about Gaucher Disease
See full article about Gaucher Disease
Definitions of Gaucher Disease:
An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see GLUCOSYLCERAMIDASE) featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells). The most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities. The neuronopathic forms are divided into infantile and juvenile forms. The infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly. The juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ATAXIA, myoclonic SEIZURES, and spasticity. The neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. (From Baillieres Clin Haematol 1997 Dec;10(4):711-23; Menkes, Textbook of Child Neurology, 5th ed, p97) - (Source - Diseases Database)
Gaucher Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Gaucher Disease, or a subtype of Gaucher Disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Gaucher Disease as a "rare disease".
Source - Orphanet
- Gaucher Disease
- What is Gaucher Disease?
- Online Medical Textbooks for Gaucher Disease
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- Information Guides
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- Misdiagnosis of Gaucher Disease
- Associated Conditions of Gaucher Disease
- Treatments for Gaucher Disease
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- Cure Research for Gaucher Disease
- Statistics about Gaucher Disease
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- Articles about Gaucher Disease
- Glossary for Gaucher Disease
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- External links relating to Gaucher Disease
- Wiki Article
- Gaucher's disease (Professional Guide to Diseases (Eighth Edition))
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