Tangier disease

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Tangier disease

Synonyms: ATP-binding cassette transporter A1 deficiency | Analphalipoproteinemia

A rare genetic neurometabolic disease characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL) and clinically by liver spleen lymph node and tonsil enlargement along with multifocal peripheral neuropathy corneal skin and nail and occasionally cardiovascular disease.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Tangier disease?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.