Meta pathway lipodystrophy, dyslipidemia and hyperlipidemia (WP5105)

Homo sapiens

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Dyslipidemia is a change (either increase or decrease) of adipose levels within the blood. When there is a significant increase of this, the term hyperlipidemia is used. With a significant decrease, we talk about hypolipoproteinemia. Both hyperlipidemia and hypolipoproteinemia can be classified as either acquired or familial. Familial hyperlipidemia can be classified in five types according to the Fredrickson classification.For this classification see Quispe et al. 2019 https://doi.org/10.5114/aoms.2019.87207. Lipodystrophy is a change (either increase or decrease) of adipose levels within the lipid tissue deposits. Lipodystrophy is classified based on wether the disease is acquired or congenital, but also wether it is geralized (through the entire body) or partial (in specific parts of the body). This classification was based on the following information by Akinci et al. [https://www.ncbi.nlm.nih.gov/books/NBK513130/]

Authors

Ulas Babayigit , Friederike Ehrhart , Egon Willighagen , Lars Willighagen , and Eric Weitz

Activity

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

familial combined hyperlipidemia hyperlipoproteinemia type III abetalipoproteinemia acquired generalized lipodystrophy lipodystrophy hyperlipoproteinemia type IV hyperlipoproteinemia type V familial chylomicronemia syndrome familial partial lipodystrophy type 1 Tangier disease Norum disease familial partial lipodystrophy type 6 familial partial lipodystrophy type 3 congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 4 familial partial lipodystrophy type 5 familial hyperlipidemia familial partial lipodystrophy type 2 hypolipoproteinemia congenital generalized lipodystrophy type 3 familial hypercholesterolemia familial partial lipodystrophy type 4 lipid metabolism disorder

Pathway Ontology

disease pathway

Participants

Label Type Compact URI Comment

References

  1. Acquired hyperlipidemia (secondary dyslipoproteinemias). Chait A, Brunzell JD. Endocrinol Metab Clin North Am. 1990 Jun;19(2):259–78. PubMed Europe PMC Scholia
  2. Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. Garg A. J Clin Endocrinol Metab. 2011 Nov;96(11):3313–25. PubMed Europe PMC Scholia
  3. Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. Berglund L, Brunzell JD, Goldberg AC, Goldberg IJ, Sacks F, Murad MH, et al. J Clin Endocrinol Metab. 2012 Sep;97(9):2969–89. PubMed Europe PMC Scholia
  4. Hypobetalipoproteinemia and abetalipoproteinemia. Welty FK. Curr Opin Lipidol. 2014 Jun;25(3):161–8. PubMed Europe PMC Scholia
  5. Lipodystrophy Syndromes: Presentation and Treatment. Akinci B, Sahinoz M, Oral E. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, et al., editors. Endotext. South Dartmouth (MA): MDText.com, Inc.; 2018. PubMed Europe PMC Scholia
  6. Genetic and secondary causes of severe HDL deficiency and cardiovascular disease. Geller AS, Polisecki EY, Diffenderfer MR, Asztalos BF, Karathanasis SK, Hegele RA, et al. J Lipid Res. 2018 Dec;59(12):2421–35. PubMed Europe PMC Scholia
  7. Characterization of lipoprotein profiles in patients with hypertriglyceridemic Fredrickson-Levy and Lees dyslipidemia phenotypes: the Very Large Database of Lipids Studies 6 and 7. Quispe R, Hendrani AD, Baradaran-Noveiry B, Martin SS, Brown E, Kulkarni KR, et al. Arch Med Sci. 2019 Sep;15(5):1195–202. PubMed Europe PMC Scholia