U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hdl Deficiency, Type 2

MedGen UID:
778139
•Concept ID:
C3711531
•
Disease or Syndrome
Synonym: Low Serum Hdl Cholesterol

Recent clinical studies

Etiology

Associations between the number of natural teeth and metabolic syndrome in adults.
Zhu Y, Hollis JH
J Clin Periodontol 2015 Feb;42(2):113-20. Epub 2015 Jan 29 doi: 10.1111/jcpe.12361. PMID: 25581485
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
Fasano T, Zanoni P, Rabacchi C, Pisciotta L, Favari E, Adorni MP, Deegan PB, Park A, Hlaing T, Feher MD, Jones B, Uzak AS, Kardas F, Dardis A, Sechi A, Bembi B, Minuz P, Bertolini S, Bernini F, Calandra S
Mol Genet Metab 2012 Nov;107(3):534-41. Epub 2012 Aug 18 doi: 10.1016/j.ymgme.2012.08.005. PMID: 22959828

Diagnosis

A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family.
Maranghi M, Truglio G, Gallo A, Grieco E, Verrienti A, Montali A, Gallo P, Alesini F, Arca M, Lucarelli M
Biochem Biophys Res Commun 2019 Jan 8;508(2):487-493. Epub 2018 Nov 30 doi: 10.1016/j.bbrc.2018.11.064. PMID: 30503498
Fish-eye disease: Another under-recognized cause of familial corneal opacification.
Kapoor S
Ophthalmic Genet 2016 Sep;37(3):349. Epub 2016 Feb 8 doi: 10.3109/13816810.2015.1059461. PMID: 26854387
Associations between the number of natural teeth and metabolic syndrome in adults.
Zhu Y, Hollis JH
J Clin Periodontol 2015 Feb;42(2):113-20. Epub 2015 Jan 29 doi: 10.1111/jcpe.12361. PMID: 25581485
HDL deficiency due to a new insertion mutation (ApoA-INashua) and review of the literature.
Lee EY, Klementowicz PT, Hegele RA, Asztalos BF, Schaefer EJ
J Clin Lipidol 2013 Mar-Apr;7(2):169-73. Epub 2012 Nov 17 doi: 10.1016/j.jacl.2012.10.011. PMID: 23415437Free PMC Article
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
Fasano T, Zanoni P, Rabacchi C, Pisciotta L, Favari E, Adorni MP, Deegan PB, Park A, Hlaing T, Feher MD, Jones B, Uzak AS, Kardas F, Dardis A, Sechi A, Bembi B, Minuz P, Bertolini S, Bernini F, Calandra S
Mol Genet Metab 2012 Nov;107(3):534-41. Epub 2012 Aug 18 doi: 10.1016/j.ymgme.2012.08.005. PMID: 22959828

Prognosis

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
Fasano T, Zanoni P, Rabacchi C, Pisciotta L, Favari E, Adorni MP, Deegan PB, Park A, Hlaing T, Feher MD, Jones B, Uzak AS, Kardas F, Dardis A, Sechi A, Bembi B, Minuz P, Bertolini S, Bernini F, Calandra S
Mol Genet Metab 2012 Nov;107(3):534-41. Epub 2012 Aug 18 doi: 10.1016/j.ymgme.2012.08.005. PMID: 22959828

Clinical prediction guides

Reduced platelet count, but no major platelet function abnormalities, are associated with loss-of-function ATP-binding cassette-1 gene mutations.
Minuz P, Meneguzzi A, Femia EA, Fava C, Calabria S, Scavone M, Benati D, Poli G, Zancanaro C, Calandra S, Lucchi T, Cattaneo M
Clin Sci (Lond) 2017 Aug 15;131(16):2095-2107. Epub 2017 Jul 24 doi: 10.1042/CS20170195. PMID: 28634189
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
Fasano T, Zanoni P, Rabacchi C, Pisciotta L, Favari E, Adorni MP, Deegan PB, Park A, Hlaing T, Feher MD, Jones B, Uzak AS, Kardas F, Dardis A, Sechi A, Bembi B, Minuz P, Bertolini S, Bernini F, Calandra S
Mol Genet Metab 2012 Nov;107(3):534-41. Epub 2012 Aug 18 doi: 10.1016/j.ymgme.2012.08.005. PMID: 22959828

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...