Niemann-Pick disease

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 with neurological problems, mental retardation, and enlargement of the liver and spleen at a young age. There are four known types of the disease. [A. Niemann (1880–1921), German paediatrician; L. Pick (1868–1944), German pathologist]

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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, 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

  • 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 — 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

  • Niemann-Pick disease — …   Википедия

  • Niemann–Pick disease — …   Useful english dictionary

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