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Tangier disease

Disease definition

Tangier disease (TD) is a rare lipoprotein metabolism disorder 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 peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

ORPHA:31150

  • Synonym(s):
    • ATP-binding cassette transporter A1 deficiency
    • Analphalipoproteinemia
    • Defective adenosine triphosphate-binding cassette transporter A1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: E78.6
  • OMIM: 205400
  • UMLS: C0039292
  • MeSH: D013631
  • GARD: 7731
  • MedDRA: 10051875

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