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Tangier disease

Disease definition

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.

ORPHA:31150

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

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.