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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Tangier disease


Other Names for this Disease

  • A-alphalipoprotein neuropathy
  • Alpha high density lipoprotein deficiency disease
  • Analphalipo-proteinemia
  • Cholesterol thesaurismosis
  • Familial high density lipoprotein deficiency disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the symptoms of Tangier disease?

Tangier disease is characterized by significantly reduced levels of high-density lipoprotein (HDL) - the "good" cholesterol - in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood; disturbances in nerve function; and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen, an enlarged liver, clouding of the clear covering of the eye, and type 2 diabetes.[1]
Last updated: 8/19/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Tangier disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Autosomal recessive inheritance -
Distal amyotrophy -
Dry skin -
Ectropion -
Facial diplegia -
Hepatomegaly -
Hypoalphalipoproteinemia -
Hyporeflexia -
Impaired pain sensation -
Impaired temperature sensation -
Left ventricular hypertrophy -
Myocardial infarction -
Nail dysplasia -
Nail dystrophy -
Opacification of the corneal stroma -
Peripheral axonal neuropathy -
Peripheral demyelination -
Splenomegaly -
Visual impairment -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Tangier disease. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/tangier-disease. Accessed 8/19/2011.


Other Names for this Disease
  • A-alphalipoprotein neuropathy
  • Alpha high density lipoprotein deficiency disease
  • Analphalipo-proteinemia
  • Cholesterol thesaurismosis
  • Familial high density lipoprotein deficiency disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.