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Niemann-Pick disease type B


Other Names for this Disease
  • Niemann Pick disease type B
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Overview


Niemann-Pick disease type B is an inherited condition involving lipid metabolism. People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain. Signs and symptoms may include enlarged liver and spleen, growth retardation, and problems with lung function including frequent lung infections. Other signs include blood abnormalities such as elevated levels of cholesterol and other lipids (fats), and decreased numbers of blood cells involved in clotting (platelets). It is caused by changes (mutations) in the SMPD1 gene. It is inherited in an autosomal recessive fashion.[1]
Last updated: 8/2/2010

References

  1. Niemann-Pick disease. Genetics Home Reference. 2006; http://www.ghr.nlm.nih.gov/condition/niemann-pick-disease. Accessed 8/2/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Niemann-Pick disease type B. 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 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.

In Depth Information

  • Medscape Reference 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.
  • 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 Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Niemann-Pick disease type B. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles