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Nie·mann-Pick dis·ease(nē'mahn pik), [MIM*257200]
lipidosis with accumulation of sphingomyelin in histiocytes in the liver, spleen, lymph nodes, and bone marrow due to a deficiency of sphingomyelinase; associated with hepatosplenomegaly, physical and mental retardation, and neurologic manifestations; macular cherry-red spots may occur at a later stage; occurs most commonly in Ashkenazi Jewish infants and leads to early death; a more benign form may occur in adults. There are several variants: type A, the classic infantile form; type B, the visceral form; type C, the juvenile form; type D, the Nova Scotia variant; and type E, the adult form; all are of autosomal recessive inheritance with types A and B caused by mutation in the acid sphingomyelinase gene (SMPD) on chromosome 11p.
Farlex Partner Medical Dictionary © Farlex 2012
sphingomyelin lipidosisNiemann-Pick disease, see there.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
Niemann,Albert, German physician, 1880-1921.
Niemann disease - Synonym(s): Niemann-Pick disease
Niemann splenomegaly - enlargement of spleen occurring in Niemann-Pick disease.
Niemann-Pick cell - Synonym(s): Pick cell
Niemann-Pick disease - lipid histiocytosis that occurs most commonly in Jewish infants and leads to early death. Synonym(s): Niemann disease; sphingomyelin lipidosis
Medical Eponyms © Farlex 2012