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Cephalin lipidosis

MedGen UID:
395225
•Concept ID:
C1859307
•
Disease or Syndrome
Synonym: Cephalin Lipidosis
 
Monarch Initiative: MONDO:0008933
OMIM®: 212800

Clinical features

From HPO
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
Abnormality of the spleen
MedGen UID:
871264
•Concept ID:
C4025749
•
Anatomical Abnormality
An abnormality of the spleen.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson's Disease.
López de Frutos L, Almeida F, Murillo-Saich J, Conceição VA, Guma M, Queheberger O, Giraldo P, Miltenberger-Miltenyi G
Int J Mol Sci 2022 Sep 8;23(18) doi: 10.3390/ijms231810387. PMID: 36142296Free PMC Article
Lipidomics profiling and risk of cardiovascular disease in the prospective population-based Bruneck study.
Stegemann C, Pechlaner R, Willeit P, Langley SR, Mangino M, Mayr U, Menni C, Moayyeri A, Santer P, Rungger G, Spector TD, Willeit J, Kiechl S, Mayr M
Circulation 2014 May 6;129(18):1821-31. Epub 2014 Mar 12 doi: 10.1161/CIRCULATIONAHA.113.002500. PMID: 24622385
Evaluation and validation of multiple cell lines and primary mouse macrophages to predict phospholipidosis potential.
LeCureux L, Cheng CS, Herbst J, Reilly TP, Lehman-McKeeman L, Otieno M
Toxicol In Vitro 2011 Dec;25(8):1934-43. Epub 2011 Jul 13 doi: 10.1016/j.tiv.2011.06.017. PMID: 21767630
Phospholipid composition in late infantile neuronal ceroid lipofuscinosis.
Granier LA, Langley K, Leray C, Sarlieve LL
Eur J Clin Invest 2000 Nov;30(11):1011-7. doi: 10.1046/j.1365-2362.2000.00757.x. PMID: 11114964
Comparison of N-acyl phosphatidylethanolamines with different N-acyl groups as activators of glucocerebrosidase in various forms of Gaucher's disease.
Basu A, Prence E, Garrett K, Glew RH, Ellingson JS
Arch Biochem Biophys 1985 Nov 15;243(1):28-34. doi: 10.1016/0003-9861(85)90770-2. PMID: 3933429

Diagnosis

Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease.
Boenzi S, Catesini G, Sacchetti E, Tagliaferri F, Dionisi-Vici C, Deodato F
Mol Genet Metab 2021 Dec;134(4):337-343. Epub 2021 Nov 16 doi: 10.1016/j.ymgme.2021.11.005. PMID: 34810067
Lipidomics profiling and risk of cardiovascular disease in the prospective population-based Bruneck study.
Stegemann C, Pechlaner R, Willeit P, Langley SR, Mangino M, Mayr U, Menni C, Moayyeri A, Santer P, Rungger G, Spector TD, Willeit J, Kiechl S, Mayr M
Circulation 2014 May 6;129(18):1821-31. Epub 2014 Mar 12 doi: 10.1161/CIRCULATIONAHA.113.002500. PMID: 24622385
Phospholipidosis assay in HepG2 cells and rat or rhesus hepatocytes using phospholipid probe NBD-PE.
Bhandari N, Figueroa DJ, Lawrence JW, Gerhold DL
Assay Drug Dev Technol 2008 Jun;6(3):407-19. doi: 10.1089/adt.2007.119. PMID: 18537465
Phospholipid composition in late infantile neuronal ceroid lipofuscinosis.
Granier LA, Langley K, Leray C, Sarlieve LL
Eur J Clin Invest 2000 Nov;30(11):1011-7. doi: 10.1046/j.1365-2362.2000.00757.x. PMID: 11114964
Decreased erythrocyte and platelet phospholipids and fatty acids in juvenile neuronal ceroid-lipofuscinosis (Batten disease).
Bennett MJ, Galloway JH, Cartwright IJ, Gillis WS, Hosking GP
Neuropediatrics 1990 Nov;21(4):202-5. doi: 10.1055/s-2008-1071496. PMID: 2290481

Therapy

From the Cover: Potentiation of Drug-Induced Phospholipidosis In Vitro through PEGlyated Graphene Oxide as the Nanocarrier.
Yang L, Zhong X, Li Q, Zhang X, Wang Y, Yang K, Zhang LW
Toxicol Sci 2017 Mar 1;156(1):39-53. doi: 10.1093/toxsci/kfw233. PMID: 28013220
High content screening analysis of phospholipidosis: validation of a 96-well assay with CHO-K1 and HepG2 cells for the prediction of in vivo based phospholipidosis.
van de Water FM, Havinga J, Ravesloot WT, Horbach GJ, Schoonen WG
Toxicol In Vitro 2011 Dec;25(8):1870-82. Epub 2011 May 30 doi: 10.1016/j.tiv.2011.05.026. PMID: 21651975

Prognosis

A lipidomic cell-based assay for studying drug-induced phospholipidosis and steatosis.
García-Cañaveras JC, Peris-Díaz MD, Alcoriza-Balaguer MI, Cerdán-Calero M, Donato MT, Lahoz A
Electrophoresis 2017 Sep;38(18):2331-2340. Epub 2017 Jun 8 doi: 10.1002/elps.201700079. PMID: 28512733
Lipidomics profiling and risk of cardiovascular disease in the prospective population-based Bruneck study.
Stegemann C, Pechlaner R, Willeit P, Langley SR, Mangino M, Mayr U, Menni C, Moayyeri A, Santer P, Rungger G, Spector TD, Willeit J, Kiechl S, Mayr M
Circulation 2014 May 6;129(18):1821-31. Epub 2014 Mar 12 doi: 10.1161/CIRCULATIONAHA.113.002500. PMID: 24622385
Evaluation and validation of multiple cell lines and primary mouse macrophages to predict phospholipidosis potential.
LeCureux L, Cheng CS, Herbst J, Reilly TP, Lehman-McKeeman L, Otieno M
Toxicol In Vitro 2011 Dec;25(8):1934-43. Epub 2011 Jul 13 doi: 10.1016/j.tiv.2011.06.017. PMID: 21767630
High content screening analysis of phospholipidosis: validation of a 96-well assay with CHO-K1 and HepG2 cells for the prediction of in vivo based phospholipidosis.
van de Water FM, Havinga J, Ravesloot WT, Horbach GJ, Schoonen WG
Toxicol In Vitro 2011 Dec;25(8):1870-82. Epub 2011 May 30 doi: 10.1016/j.tiv.2011.05.026. PMID: 21651975
Relationship between in vitro phospholipidosis assay using HepG2 cells and 2-week toxicity studies in rats.
Miyamoto S, Matsumoto A, Mori I, Horinouchi A
Toxicol Mech Methods 2009 Oct;19(8):477-85. doi: 10.1080/15376510903322834. PMID: 19793005

Clinical prediction guides

The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis.
Marcos AL, Corradi GR, Mazzitelli LR, Casali CI, Fernández Tome MDC, Adamo HP, de Tezanos Pinto F
Biochim Biophys Acta Biomembr 2019 Oct 1;1861(10):182993. Epub 2019 May 24 doi: 10.1016/j.bbamem.2019.05.015. PMID: 31132336
A lipidomic cell-based assay for studying drug-induced phospholipidosis and steatosis.
García-Cañaveras JC, Peris-Díaz MD, Alcoriza-Balaguer MI, Cerdán-Calero M, Donato MT, Lahoz A
Electrophoresis 2017 Sep;38(18):2331-2340. Epub 2017 Jun 8 doi: 10.1002/elps.201700079. PMID: 28512733
From the Cover: Potentiation of Drug-Induced Phospholipidosis In Vitro through PEGlyated Graphene Oxide as the Nanocarrier.
Yang L, Zhong X, Li Q, Zhang X, Wang Y, Yang K, Zhang LW
Toxicol Sci 2017 Mar 1;156(1):39-53. doi: 10.1093/toxsci/kfw233. PMID: 28013220
Lipidomics profiling and risk of cardiovascular disease in the prospective population-based Bruneck study.
Stegemann C, Pechlaner R, Willeit P, Langley SR, Mangino M, Mayr U, Menni C, Moayyeri A, Santer P, Rungger G, Spector TD, Willeit J, Kiechl S, Mayr M
Circulation 2014 May 6;129(18):1821-31. Epub 2014 Mar 12 doi: 10.1161/CIRCULATIONAHA.113.002500. PMID: 24622385
Evaluation and validation of multiple cell lines and primary mouse macrophages to predict phospholipidosis potential.
LeCureux L, Cheng CS, Herbst J, Reilly TP, Lehman-McKeeman L, Otieno M
Toxicol In Vitro 2011 Dec;25(8):1934-43. Epub 2011 Jul 13 doi: 10.1016/j.tiv.2011.06.017. PMID: 21767630

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