Tangier disease

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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 July 2024

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Tangier disease?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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