Tangier Disease

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Tangier Disease

  • Anemia
  • Thrombocytopenia
  • Abdominal pain
  • Hepatosplenomegaly
  • Distal muscle weakness
  • Corneal opacity
  • Nail dystrophy
  • Dry skin
  • Peripheral axonal neuropathy
  • Hypertriglyceridemia

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Tangier Disease Is also known as defective adenosine triphosphate-binding cassette transporter a1, analphalipoproteinemia, atp-binding cassette transporter a1 deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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