Tangier disease

Tangier disease

*Gene map locus 9q22-q31

Analphalipoproteinemia

HDLDT1

High density lipoprotein deficiency, Tangier type

High density lipoprotein deficiency, type 1

TGD

[Clinical features: large orange tonsils; enlarged liver, spleen and lymph nodes; very low plasmatic HDL]

[Inheritance: autosomal recessive]


A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease	A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease	A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease
Brain	Brain	Brain


Tangier Disease With Continuous Massive and Longitudinal Diffuse Calcification in the Coronary Arteries : Demonstration by the Sagittal Images of Intravascular Ultrasonography	Tangier Disease With Continuous Massive and Longitudinal Diffuse Calcification in the Coronary Arteries : Demonstration by the Sagittal Images of Intravascular Ultrasonography	Tangier Disease With Continuous Massive and Longitudinal Diffuse Calcification in the Coronary Arteries : Demonstration by the Sagittal Images of Intravascular Ultrasonography
Circulation	Circulation	Circulation


Tangier disease--a diagnostic challenge in countries endemic for leprosy	Tangier disease--a diagnostic challenge in countries endemic for leprosy	Tangier disease--a diagnostic challenge in countries endemic for leprosy
Journal of Neurology, Neurosurgery and Psychiatry	Journal of Neurology, Neurosurgery and Psychiatry	Journal of Neurology, Neurosurgery and Psychiatry


Photograph of enlarged tonsils used in the study of Tangier disease
Profiles in Science - U.S. National Library of Medicine

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Edited by Aldo Campana, August 21, 2012