Niemann-Pick Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/niemann-pick-disease

Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.

genetic conditions

References

Gabandé-Rodríguez E, Boya P, Labrador V, Dotti CG, Ledesma MD. Highsphingomyelin levels induce lysosomal damage and autophagy dysfunction in NiemannPick disease type A. Cell Death Differ. 2014 Jun;21(6):864-75. doi:10.1038/cdd.2014.4.
Garver WS, Francis GA, Jelinek D, Shepherd G, Flynn J, Castro G, Walsh VockleyC, Coppock DL, Pettit KM, Heidenreich RA, Meaney FJ. The National Niemann-Pick C1disease database: report of clinical features and health problems. Am J Med GenetA. 2007 Jun 1;143A(11):1204-11.
Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E,Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE,Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ. Acid sphingomyelinase(Asm) deficiency patients in The Netherlands and Belgium: disease spectrum andnatural course in attenuated patients. Mol Genet Metab. 2012 Nov;107(3):526-33.doi: 10.1016/j.ymgme.2012.06.015.
Irun P, Mallén M, Dominguez C, Rodriguez-Sureda V, Alvarez-Sala LA, Arslan N, Bermejo N, Guerrero C, Perez de Soto I, Villalón L, Giraldo P, Pocovi M.Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. Clin Genet. 2013 Oct;84(4):356-61. doi: 10.1111/cge.12076.
McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP. Natural history ofType A Niemann-Pick disease: possible endpoints for therapeutic trials.Neurology. 2006 Jan 24;66(2):228-32.
McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP.Morbidity and mortality in type B Niemann-Pick disease. Genet Med. 2013Aug;15(8):618-23. doi: 10.1038/gim.2013.4.
Mengel E, Klünemann HH, Lourenço CM, Hendriksz CJ, Sedel F, Walterfang M, KolbSA. Niemann-Pick disease type C symptomatology: an expert-based clinicaldescription. Orphanet J Rare Dis. 2013 Oct 17;8:166. doi:10.1186/1750-1172-8-166. Review.
Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, VanierMT, Pineda M. Disease and patient characteristics in NP-C patients: findings froman international disease registry. Orphanet J Rare Dis. 2013 Jan 16;8:12. doi:10.1186/1750-1172-8-12. Erratum in: Orphanet J Rare Dis. 2013;8:73.
Sturley SL, Patterson MC, Balch W, Liscum L. The pathophysiology andmechanisms of NP-C disease. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):83-7.Review.
Vance JE. Lipid imbalance in the neurological disorder, Niemann-Pick Cdisease. FEBS Lett. 2006 Oct 9;580(23):5518-24.
Walkley SU, Suzuki K. Consequences of NPC1 and NPC2 loss of function inmammalian neurons. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):48-62. Review.
Wasserstein MP, Desnick RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C,McGovern MM. The natural history of type B Niemann-Pick disease: results from a10-year longitudinal study. Pediatrics. 2004 Dec;114(6):e672-7.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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