Tangier disease
What is Tangier disease?
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.
Other condition names
- ATP-binding cassette transporter A1 deficiency
- Analphalipoproteinemia
- Defective adenosine triphosphate-binding cassette transporter A1
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
- Europe: <1 in 1,000 000
Age of Onset
- Adolescent
- Adult
- Childhood
- Infancy
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.