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NP nasopharynx, nasopharyngeal; near point; necrotizing pancreatitis; neonatal-perinatal; neuritic plag...
NPD narcissistic personality disorder; natriuretic plasma dialysate; negative pressure device; Niemann-P...
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NPC NIEMANN: Pick disease type C
NPD Niemann Pick disease
NP-C Niemann-Pick Type C
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  • Niemann Pick's cell
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Niemann disease <disease> A family of severe lysosomal storage diseases resulting in an accumulation of sphingomyelin and other phospholipids in the reticuloendothelial system.
The best studied forms are due to deficiency of sphingomyelinase and it is more common in Ashkenazi Jews than other groups.
Clinical signs include foam cells in the blood and marrow, hepatosplenomegaly and neurologic degeneration. Diagnosis is confirmed by enzyme assay on leukocytes or fibroblasts and specific mutations in the gene are now recognised.
(29 Dec 1997)
Niemann's splenomegaly Enlargement of spleen occurring in Niemann-Pick disease.
(05 Mar 2000)
Niemann, Albert <person> German physician, 1880-1921.
See: Niemann-Pick cell, Niemann-Pick disease, Niemann disease, Niemann's splenomegaly.
(05 Mar 2000)
Niemann-Pick cell A relatively large, rounded or polygonal, mononuclear cell, with indistinctly or palely staining, foamlike cytoplasm that contains numerous droplets of a phosphatide, sphingomyelin; such cell's are widely distributed in the spleen and other tissues, especially those rich in reticuloendothelial components, in patients with Niemann-Pick disease.
Synonym: Niemann-Pick cell.
(05 Mar 2000)
Niemann-Pick disease <disease> A family of severe lysosomal storage diseases resulting in an accumulation of sphingomyelin and other phospholipids in the reticuloendothelial system.
The best studied forms are due to deficiency of sphingomyelinase and it is more common in Ashkenazi Jews than other groups.
Clinical signs include foam cells in the blood and marrow, hepatosplenomegaly and neurologic degeneration. Diagnosis is confirmed by enzyme assay on leukocytes or fibroblasts and specific mutations in the gene are now recognised.
(29 Dec 1997)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 4 ÆäÀÌÁö: 1
  • Niemann-Pick Disease, Type A - »õâ The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the RETICULOENDOTHELIAL SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
    Synonyms : Classical Niemann-Pick Disease, Niemann-Pick Disease, Acute Neuronopathic Form, Niemann-Pick Disease, Acute Neurovisceral Form, Niemann-Pick Disease, Neuronopathic Type, Niemann-Pick's Disease Type A, Type A Niemann-Pick Disease, Niemann Pick Disease, Type A
  • Niemann-Pick Disease, Type B - »õâ An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type).
    Synonyms : Niemann-Pick Disease, Adult Non-Neuronopathic, Niemann-Pick Disease, Non-Neuronopathic Type, Niemann-Pick Disease, Type E, Niemann-Pick Disease, Visceral, Niemann-Pick's Disease Type B, Niemann-Pick's Disease Type E, Type B Niemann-Pick Disease
  • Niemann-Pick Disease, Type C - »õâ An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.
    Synonyms : Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia, Niemann-Pick Disease with Cholesterol Esterification Block, Niemann-Pick Disease without Sphingomyelinase Deficiency, Niemann-Pick Disease, Chronic Neuronopathic Form
  • Niemann-Pick Diseases - »õâ 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.
    Synonyms : Niemann Pick Disease, Niemann Pick Diseases
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Niemann-Pick disease a disorder of lipid metabolism that is inherited as an autosomal recessive trait
Ãâó: wordnet.princeton.edu/perl/webwn
Niemann's d. 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) in the classic type, accounting for 85 per cent of the patients: onset is in early infancy; CNS damage is severe; death occurs by 4 years. Type B (chronic nonneuronopathic) has onset in early infancy but does not affect the CNS or intelligence; normal life-span 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.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
Niemann's disease Niemann-Pick disease; see under disease.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
Niemann-Pick c.’s round, oval, or polyhedral cells present in the bone marrow and spleen in Niemann-Pick disease; they have foamy, lipid-containing cytoplasm, in the form of sphingomyelin, which gives a positive reaction with Sudan III and other fat stains. Called also Pick c's.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
Niemann-Pick cells, disease see under cell and disease.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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Niemann a disorder of lipid metabolism that is inherited as an autosomal recessive trait
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