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Tangier disease

Disease Export to PDF
Name:
Tangier disease
Description:
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.
ORPHAcode:
31150
Synonyms:
ATP-binding cassette transporter A1 deficiency
Analphalipoproteinemia
XREF(s):
Orphanet
MedDRA
ICD-10
MeSH
OMIM
Analyte(s):
ABCA1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14