Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Acute cerebral Gaucher disease
  • Cerebroside lipidosis syndrome
  • Gaucher splenomegaly
  • Sphingolipidosis 1
  • Glucocerebrosidosis
  • Glucosylceramidase deficiency
  • Glucosyl cerebroside lipidosis
  • Kerasin lipoidosis
  • Kerasin thesaurismosis
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Home > Genetic & Rare Diseases Information Center (GARD) > Gaucher Disease



Gaucher Disease
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For more information about Gaucher Disease click on the boxes below:
More Detailed Information NLM Gateway Medical Products Services Scientific Conferences Support Groups Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 11 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    • The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
    • Genetics Home Reference (GHR) contains a condition summary on Gaucher Disease. Click on the link to go to GHR and review this summary.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
    • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Gaucher Disease. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Gaucher Disease. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 
Medical Products (Found 3 resources)




  • The medications listed in the table below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search all FDA approved drugs, visit Drugs@FDA You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.


    Generic NameTrade Name
    (Manufacturer Name)    		IndicationResources
    Alglucerase injectionCeredase
    (Genzyme Corporation)    		Long-term enzyme replacement therapy for children, adolescents and adult patients with a confirmed diagnosis of Type I Gaucher disease who exhibit signs and symptoms that are severe enough to result in one or more of the following conditions: a) moderate-Daily Med
    MedlinePlus
    ImigluceraseCerezyme®
    (Genzyme Corporation)    		Enzyme replacement therapy in patients with type I Gaucher's disease.Daily Med
    MedlinePlus
    MiglustatZavesca®
    (Actelion Pharmaceuticals Ltd)    		Treatment of mild to moderate Type I Gaucher disease in adults for whom enzyme replacement therapy is not a therapeutic option (e.g., due to constraints such as allergy, hypersensitivity, or poor venous access).
 
Services (Found 1 resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
 
Scientific Conferences (Found 1 resource)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health

  • Upcoming Conferences

    • Workshop on Glucocerebrosidase and the Synucleinopathies,
      Location: NIH Fogarty Center, Bethesda, MD
      Description: Several new studies have reported evidence for an association between Gaucher disease, the inherited deficiency of glucocerebrosidase, and the synucleinopathies, clinically diverse neurodegenerative disorders characterized by fibrillar α-synuclein inclusions in neuronal and/or glial cell populations. Recently, several groups have reported findings that show an increased frequency of Gaucher mutations in patients with parkinsonism. This conference brought together basic researchers, pathologists, and clinicians from diverse backgrounds studying synucleinopathies and/or Gaucher disease to explore the etiology and significance of this association. The format included presentations from invited speakers and roundtable discussions. Agenda items included talks on clinical, natural history, animal, pathology, cell biology, protein, and molecular studies as well as discussions of strategies for future research and therapeutic advances. A consensus statement will be drafted for publication. Goals included (1) understanding the contribution of mutant glucocerebrosidase to the development of synucleinopathies, (2) better establishing the frequency of this association in different clinical cohorts and determining the relative risk of developing parkinsonism in Gaucher patients and heterozygotes, and (3) raising awareness of how heterozygosity for a rare disease may be a risk factor for common disorders.
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Gaucher Disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
    • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
      Link: http://projectreporter.nih.gov/reporter.cfm

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