Tangier disease

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Print

Disease Overview

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.


Synonyms

  • A-alphalipoprotein neuropathy
  • ATP-binding cassette transporter A1 deficiency
  • Alpha high density lipoprotein deficiency disease
  • Analphalipo-proteinemia
  • Analphalipoproteinemia
  • HDL lipoprotein deficiency disease
  • HDLDT1
  • Tangier disease
  • cholesterol thesaurismosis
  • defective adenosine triphosphate-binding cassette transporter A1
  • familial Hypoalphalipo-proteinemia
  • familial alpha-lipoprotein deficiency
  • familial high density lipoprotein deficiency
  • familial high density lipoprotein deficiency disease
  • high density lipoprotein deficiency, Tangier type
  • high density lipoprotein deficiency, type 1
  • tgd

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

View report
Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

View report
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

View report
National Organization for Rare Disorders