Niemann-Pick disease

(redirected from Niemann-Pick disease type C)
Also found in: Dictionary, Thesaurus, Encyclopedia.

Niemann-Pick disease

 [ne´mahn pik´]
a lysosomal storage disease due to sphingomyelin accumulation in the reticuloendothelial system; there are five types distinguished by age of onset, amount of central nervous system involvement, and degree of enzyme deficiency. At least some types are characterized by foamy reticular cells containing phospholipids which infiltrate the liver, spleen, lungs, lymph nodes, and bone marrow.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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

Niemann-Pick disease

(nē′mən-pĭk′)
n.
An inherited disorder of lipid metabolism characterized by the accumulation of lipids in the spleen and liver and sometimes in the lungs, bone marrow, and brain. It is divided into several types, one of which occurs chiefly in infants of eastern European Jewish descent.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

Niemann-Pick disease

Metabolism A rapidly progressive AR storage disease with progressive neurologic damage due to sphingomyelinase deficiency; NPD type A is AR, more common in Ashkenazi Jews and is characterized by accumulation of excess sphingomyelin and cholesterol in the brain, BM, liver, spleen Clinical Early infancy onset with feeding problems and delayed or regressing motor development, progressive vision and hearing loss; late onset NPD is characterized by movement disorders and seizures. See Niemann-Pick cell.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

Niemann-Pick disease

An autosomal recessive hereditary disease in which the absence of an enzyme causes defective metabolism of SPHINGOMYELIN. A sphingolipidosis. There is abnormal accumulation of sphingomyelin causing enlargement of the liver and spleen, anaemia and severe neurological damage leading to physical and mental retardation and often death in early childhood. At least six varieties, having differing prognoses, have been described. Some have onset in adult life and do not affect the nervous system. The gene was identified in 1997. (Albert Neimann, 1880–1921, German paediatrician; and Ludwig Pick, 1868–1935, German physician).
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

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

Pick,

Ludwig, German physician, 1868-1935.
Niemann-Pick cell - Synonym(s): Pick cell
Niemann-Pick disease - see under Niemann
Pick cell - a relatively large mononuclear cell widely distributed in the spleen and other tissues in Niemann-Pick disease. Synonym(s): Niemann-Pick cell
Pick tubular adenoma - a testicular tumor. Synonym(s): androblastoma
Medical Eponyms © Farlex 2012
References in periodicals archive ?
Arimoclomol, the company's lead candidate, is in clinical development for four orphan diseases: Niemann-Pick disease Type C, Gaucher disease, sporadic Inclusion Body Myositis, and Amyotrophic Lateral Sclerosis.
The company is currently in the process of applying for multi-national, multi-center clinical trials with its lead asset (IB1001) for the treatment of Niemann-Pick disease Type C (NPC), GM2 Gangliosidosis (Tay-Sachs and Sandhoff disease) and inherited Cerebellar Ataxias (CA).
Biotechnology company CTD Holdings Inc (Other OTC:CTDH) reported on Thursday that it has started enrolling patients under its Phase I clinical study in the US to evaluate the intravenous administration of Trappsol Cyclo in patients with Niemann-Pick Disease Type C (NPC) at the Children's Hospital & Research Center Oakland.
Biotechnology company CTD Holdings (Other OTC:CTDH) disclosed on Wednesday that it has submitted a Clinical Trial Application (CTA) in Italy to launch a Phase I/II clinical trial of its Trappsol Cyclo for the treatment of Niemann-Pick Disease Type C.
Lucy Mathieson, two, has the terminal Niemann-Pick disease type C, which affects only 300 people worldwide.
M2 PHARMA-December 22, 2016-CTD Holdings files Clinical Trial Application in Italy to initiate Phase I/II clinical trial of Trappsol Cyclo for Niemann-Pick Disease Type C
Lucy Mathieson, two, was born with Niemann-Pick disease type C, a genetic condition affecting 50 to 60 people in the UK.
The event is being held in aid of two-year-old Lucy Mathieson, from Washington, who was born with the rare terminal Niemann-Pick disease type C.
Lucy was born with a one-in-250 million terminal complaint, Niemann-Pick disease type C, a genetic condition affecting 50-60 people in the UK and 300 in America.
She was born with Niemann-Pick disease type C, a genetic condition affecting 50-60 people in the UK and 300 in America.
Here are some facts surrounding Niemann-Pick disease type C