Tangier disease
Findings
No curated finding names Tangier disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008783), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- HypocholesterolemiaHPOHP:0003146
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- Accelerated atherosclerosisHPOHP:0004943
- Frequent (30% to 79% of cases)
- Chronic noninfectious lymphadenopathyHPOHP:0002730
- Frequent (30% to 79% of cases)
- Coronary artery stenosisHPOHP:0005145
- Frequent (30% to 79% of cases)
- Distal muscle weakness
Show the remaining 13
- Peripheral axonal neuropathyHPOHP:0003477
- Frequent (30% to 79% of cases)
- Progressive peripheral neuropathyHPOHP:0007133
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
- Carotid artery stenosisHPOHP:0100546
- Occasional (5% to 29% of cases)
- Corneal opacityHPOHP:0007957
- Occasional (5% to 29% of cases)
- Facial diplegiaHPOHP:0001349
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABCA1HGNC:29
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: Tangier disease
- Also called
- AnalphalipoproteinemiaATP-binding cassette transporter A1 deficiencydefective adenosine triphosphate-binding cassette transporter A1