Niemann disease

Niemann disease
Niemann-Pick disease a lysosomal storage disease due to a deficiency of sphingomyelin phosphodiesterase with sphingomyelin accumulation in the reticuloendothelial system. There are five types distinguished by age of onset and by the amount of CNS involvement and of sphingomyelin phosphodiesterase activity. Type A (acute neuronopathic) is the classic type, accounting for 85 per cent of patients; onset is in early infancy, CNS damage is severe, and death occurs by 4 years. Type B (chronic nonneuronopathic) has onset in early infancy but does not affect the CNS or intelligence, and a normal lifespan is possible. Type C (chronic neuronopathic) has variable ages of onset (at 2 years or older) and of death (from age 5 to adulthood) and variable CNS involvement. Type D (the Nova Scotia variant) resembles type C; type E (the adult, nonneuronopathic form) may be a late-onset variant of type C. Called also sphingomyelin lipidosis and sphingomyelinase deficiency.

Medical dictionary. 2011.

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  • Niemann disease — Nie·mann disease (neґmahn) [Albert Niemann, German pediatrician, 1880–1921] Niemann Pick disease; see under disease …   Medical dictionary

  • 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, 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 — 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

  • Disease, Niemann-Pick — 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

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   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-Krankheit — Klassifikation nach ICD 10 E75.2 Sonstige Sphingolipidosen (incl. Niemann Pick Krankheit) …   Deutsch Wikipedia

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