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Diseases

Genetic and Rare Diseases Information Center (GARD)

Gaucher disease type 2


Other Names for this Disease
  • GD 2
  • Gaucher disease, infantile cerebral
  • Gaucher disease, acute neuronopathic type
Related Diseases
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Overview

Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Liver and spleen enlargement are often apparent by 3 months of age. Patients typically develop extensive and progressive brain damage and many die by 2 years of age.[1] Gaucher disease type 2 is caused by mutations in the GBA gene. It is inherited in an autosomal recessive pattern.[2] While enzyme replacement therapy is available, there is no effective treatment for the severe brain damage that may occur in patients with this condition.[1]
Last updated: 2/22/2010

References

  1. NINDS Gaucher's Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2009; http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm. Accessed 2/22/2010.
  2. Gaucher disease. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=gaucherdisease. Accessed 2/22/2010.
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Basic Information

  • The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
  • Genetics Home Reference (GHR) contains information on Gaucher disease type 2. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gaucher disease type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • GD 2
  • Gaucher disease, infantile cerebral
  • Gaucher disease, acute neuronopathic type
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.