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Hypoprebetalipoproteinemia

MedGen UID:
318569
•Concept ID:
C1720772
•
Disease or Syndrome

Definition

A condition with abnormally low levels of PREBETA-LIPOPROTEINS in the blood. [from MeSH]

Professional guidelines

PubMed

Guidance for the diagnosis and treatment of hypolipidemia disorders.
Bredefeld C, Hussain MM, Averna M, Black DD, Brin MF, Burnett JR, Charrière S, Cuerq C, Davidson NO, Deckelbaum RJ, Goldberg IJ, Granot E, Hegele RA, Ishibashi S, Karmally W, Levy E, Moulin P, Okazaki H, Poinsot P, Rader DJ, Takahashi M, Tarugi P, Traber MG, Di Filippo M, Peretti N
J Clin Lipidol 2022 Nov-Dec;16(6):797-812. Epub 2022 Sep 29 doi: 10.1016/j.jacl.2022.08.009. PMID: 36243606
Clinical utility gene card for: Tangier disease.
Hooper AJ, McCormick SPA, Hegele RA, Burnett JR
Eur J Hum Genet 2017 Jun;25(7):e1-3. Epub 2017 May 24 doi: 10.1038/ejhg.2017.72. PMID: 28537273Free PMC Article
Pathogenesis and management of lipoprotein disorders.
Schaefer EJ, Levy RI
N Engl J Med 1985 May 16;312(20):1300-10. doi: 10.1056/NEJM198505163122007. PMID: 3887163

Recent clinical studies

Etiology

PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
Matarin MM, Singleton AB, Houlden H
Neurosci Lett 2006 Oct 23;407(2):162-5. Epub 2006 Sep 7 doi: 10.1016/j.neulet.2006.08.030. PMID: 16962235
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ
Neurology 2002 Jun 11;58(11):1673-4. doi: 10.1212/wnl.58.11.1673. PMID: 12058097

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