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Niemann-Pick Diseases
Definition: A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.

Synonym(s): Niemann-Pick Disease / Niemann Pick Disease / Niemann Pick Diseases /

Narrow term(s):
   Niemann-Pick Disease, Type A    Niemann-Pick Disease, Type B    Niemann-Pick Disease, Type C

See also:
Sea-Blue Histiocyte Syndrome  Sphingomyelin Phosphodiesterase   

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Niemann-Pick disease?
Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain.
This disorder is divided into four main types based on the genetic cause and the signs and symptoms exhibited by the patient. Type A Niemann-Pick disease begins during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to thrive, and progressive deterioration of the nervous system. Children aff ...

How common is Niemann-Pick disease?
Niemann-Pick disease, type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 people. The incidence for other populations is unknown.

Niemann-Pick disease, type B occurs in all populations; however, the incidence is unknown.

The incidence of Niemann-Pick disease, type C is estimated to be 1 in 150,000 people. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia. T ...

More information from the Genetics Home Reference Website
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  Web resources for "Niemann-Pick Diseases"
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view the robot description of the site Niemann-Pick disease Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comwww.wrongdiagnosis.com  
view the HON description of the site HONcode - Recent Events Hosted on Behalf of the NNPDF and our Families www.nnpdf.org 22
view the HON description of the site HONcode - Niemann-Pick disease - Genetics Home Referenceghr.nlm.nih.gov 7
view the robot description of the site Welcome to the Niemann-Pick Disease Group (UK)www.niemannpick.org.uk  
view the robot description of the site Niemann-Pick Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 3
view the HON description of the site HONcode - Niemann-Pick disease: MedlinePlus Medical Encyclopediawww.nlm.nih.gov 2
view the HON description of the site HONcode - Orphanet: Niemann Pick disease type Awww.orpha.net 6
view the robot description of the site Niemann-Pick Disease - Cedars-Sinaiwww.cedars-sinai.edu  
view the robot description of the site Whonamedit - Niemann-Pick disease (Ludwig Pick)www.whonamedit.com 2
view the robot description of the site Niemann Pick Disease Center - Mount Sinai School of Medicinewww.mssm.edu  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
view the robot description of the site Abstract | Niemann-Pick disease type Cwww.ojrd.com 2
view the robot description of the site Ehealthconnection | Health Informationwww.ehealthconnection.com  
view the HON description of the site HONcode - Niemann-Pick - Story of Valeria www.eurordis.org  
view the robot description of the site Niemann- Pick Disease - Ara Parseghian Medical Research Foundation - Lysosomal Diseasewww.parseghian.org  
 
 

See also: - Sphingomyelin Phosphodiesterase

Broader term(s): - Sphingolipidoses - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Histiocytosis - Lymphatic Diseases
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Broader term(s): - Nervous System Diseases
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Broader term(s): - Nervous System Diseases

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  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
                  Histiocytosis
                      Histiocytosis, Non-Langerhans-Cell 
      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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