Results 1 to 10 of about 9,324,018 (299)

A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation [PDF]

Frontiers in Neurology, 2016
Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic ...
Marco Ceccanti, Chiara Cambieri, Vittorio Frasca, Emanuela Onesti, Antonella Biasotta, Carla Giordano, Sabina Maria Bruno, Giancarlo Testino, Marco Lucarelli, Marcello Arca, Maurizio Inghilleri   +10 more
doaj   +5 more sources

Current Diagnosis and Management of Tangier Disease. [PDF]

J Atheroscler Thromb, 2021
Tangier disease is a genetic disorder characterized by an absence or extremely low level of high-density lipoprotein (HDL)-cholesterol (HDL-C). It is caused by a dysfunctional mutation of the ATP-binding cassette transporter A1 ( ABCA1 ) gene, the ...
Koseki M, Yamashita S, Ogura M, Ishigaki Y, Ono K, Tsukamoto K, Hori M, Matsuki K, Yokoyama S, Harada-Shiba M.   +9 more
europepmc   +4 more sources

Lipid Dysregulation in Tangier Disease: A Case Series and Metabolic Characterization.

J Clin Endocrinol Metab
Context Tangier disease (TD) is a rare, autosomal recessive genetic disorder associated with a deficiency in cellular cholesterol export leading to cholesterol accumulation in peripheral tissues.
Semmler G, Baumgartner C, Metz M, Gensluckner S, Habisch H, Hofer H, März W, Offner F, Völkerer A, Petrenko O, Wernly B, Draxler-Dworzak S, Neyer M, Nigmann C, Greber-Platzer S, Esterbauer H, Madl T, Aigner E, Scherer T, Datz C.   +19 more
europepmc   +3 more sources

Clinical utility gene card for: Tangier disease. [PDF]

Eur J Hum Genet, 2017
1.5 Mutational spectrum The recessive disorder Tangier disease is caused by variants in the ABCA1 gene, which encodes the ATP-binding cassette transporter 1.1–4 This transporter facilitates the efflux of cholesterol from cells to nascent high-density ...
Hooper AJ, McCormick SPA, Hegele RA, Burnett JR.   +3 more
europepmc   +4 more sources

Accelerated Atherogenicity in Tangier Disease. [PDF]

J Atheroscler Thromb, 2018
We report a case of Tangier disease with Leriche syndrome and bleeding tendency. In this male patient, nasal hemorrhage had been observed frequently throughout childhood.
Muratsu J, Koseki M, Masuda D, Yasuga Y, Tomoyama S, Ataka K, Yagi Y, Nakagawa A, Hamada H, Fujita S, Hattori H, Ohama T, Nishida M, Hiraoka H, Matsuzawa Y, Yamashita S.   +15 more
europepmc   +4 more sources

Tangier Disease: An Unusual Cause of Chronic Diarrhea. [PDF]

ACG Case Rep J, 2021
Tangier disease is a rare autosomal recessive disease resulting in cholesterol deposition in different organs. We report a case of a 52-year-old white man who presented for chronic diarrhea without significant findings on noninvasive testing.
Ritaccio G, Asif B, Yfantis H, Wong U.
europepmc   +3 more sources

From HDL Deficiency to Neuropathy: Insights into Tangier Disease

Journal of Education, Health and Sport
Introduction: This review aims to provide a comprehensive examination of Tangier disease, focusing on its clinical manifestations, pathophysiology, and diagnostic methods.
Magdalena Jabłonowska, Paulina Grzeszczuk, Iwona Skorulska   +2 more
doaj   +4 more sources

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease. [PDF]

Orphanet J Rare Dis, 2014
BackgroundTangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP binding cassette transporter (ABCA1) gene. The deficiency of ABCA1 protein impairs high density lipoprotein (HDL) synthesis and cholesterol esters ...
Sechi A, Dardis A, Zampieri S, Rabacchi C, Zanoni P, Calandra S, De Maglio G, Pizzolitto S, Maruotti V, Di Muzio A, Platt F, Bembi B.   +11 more
europepmc   +4 more sources

Unusual Mild Phenotype Presentation in an Elderly Patient with Homozygous Tangier Disease [PDF]

Cardiogenetics
Tangier disease (TD) is an extremely rare inherited disorder involving lipoprotein metabolism and high-density lipoprotein (HDL) recycling in particular.
Ornella Guardamagna, Renato Bonardi, Raffaele Buganza, Francesco Martino, Livia Pisciotta, Luisa de Sanctis, Pier Paolo Bassareo   +6 more
doaj   +3 more sources

Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease. [PDF]

J Clin Med, 2023
Tangier disease (TD) is a rare autosomal recessive disorder caused by a variant in the ABCA1 gene, characterized by significantly reduced levels of plasma high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA-I). TD typically leads to
Barbosa-Gouveia S, Fernández-Crespo S, Lazaré-Iglesias H, González-Quintela A, Vázquez-Agra N, Hermida-Ameijeiras Á.   +5 more
europepmc   +2 more sources