Niemann-Pick disease
Severe lysosomal storage disease caused by deficiency in sphingomyelinase; excess sphingomyelin is stored in ‘foam’ cells (macrophages) in spleen, bone-marrow and lymphoid tissue. More common in Ashkenazi Jews than other groups.

Dictionary of molecular biology. 2004.

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  • Niemann–Pick disease — Niemann Pick disease Classification and external resources ICD 10 E75.2 (ILDS E75.230) ICD 9 272.7 …   Wikipedia

  • Niemann-Pick disease — Infobox Disease Name = Niemann Pick disease Caption = DiseasesDB = ICD10 = ICD10|E|75|2|e|70 (ILDS E75.230) ICD9 = ICD9|272.7 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D009542 Niemann Pick Disease is one of a group of… …   Wikipedia

  • Niemann-Pick disease — A disorder of the metabolism of a lipid (fat) called sphingomyelin that usually causes the progressive development of enlargement of the liver and spleen (hepatosplenomegaly), swollen glands (lymphadenopathy), anemia and mental and physical… …   Medical dictionary

  • Niemann-Pick disease — noun a disorder of lipid metabolism that is inherited as an autosomal recessive trait • Hypernyms: ↑inborn error of metabolism, ↑lipidosis, ↑autosomal recessive disease, ↑autosomal recessive defect * * * ˈnēˌmänˈpik noun Usage: usually… …   Useful english dictionary

  • Niemann-Pick disease — /nee meuhn pik /, Pathol. a rare, hereditary lipid storage disease, occurring primarily among Ashkenazic Jews, in which abnormal lipid metabolism results in enlargement of the liver, spleen, and lymph nodes, and in progressive mental and physical …   Universalium

  • Niemann-Pick disease — an inherited (autosomal recessive) disorder of lipid metabolism due to a defect in the enzyme sphingomyelinase and resulting in accumulation of sphingomyelin and other phospholipids in the bone marrow, brain, liver, and spleen. Patients present… …   The new mediacal dictionary

  • Niemann-Pick disease — …   Википедия

  • Niemann–Pick disease — …   Useful english dictionary

  • Niemann-Pick disease, type C — Classification and external resources ICD 10 E75.2 (ILDS E75.230) ICD 9 272.7 …   Wikipedia

  • Niemann-Pick disease, SMPD1-associated — Classification and external resources ICD 10 E75.2 (ILDS E75.230) ICD 9 272.7 …   Wikipedia

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