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Tangier disease; high density lipoprotein (HDL) deficiency type 1; analphalipoproteinemia (HDLD1)
Etiology: severe deficiency of plasma HDL
Epidemiology: rare
Pathology:
- accumulation of cholesterol ester laden cells in reticuloendothelial tissue
Genetics:
1) autosomal recessive
2) defect in apolipoprotein A1
3) mutations in ATP-binding cassette transporter 1 (ABCA1) gene [2-4]
4) other implicated genes
- ABCG1
Clinical manifestations:
1) enlarged & distinctively colored tonsils
2) hepatosplenomegaly
3) lymphadenopathy
4) premature coronary artery disease (CAD)
5) recurrent peripheral neuropathy
6) progressive muscle wasting & weakness
Laboratory:
1) decreased serum cholesterol, HDL & LDL; HDL cholesterol may be absent
2) elevated serum triglyceride
3) measure of apolipoprotein A1 may be abnormal
Related
ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ATP-binding cassette 1; ABC-1; cholesterol efflux regulatory protein (ABCA1, ABC1, CERP)
General
familial HDL deficiency (familial hypoalphalipoproteinemia)
liver disease
Database Correlations
OMIM correlations
MORBIDMAP 600046
References
- Clinical Diagnosis & Management by Laboratory Methods,
J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991,
pg 210
- Bodzioch M et al
The gene encoding ATP-binding cassette transporter 1 is
mutated in Tangier disease.
Nature Genetics 22:347-51, 1999
PMID: 10431237
- Rust S et al
Tangier disease is caused by mutations in the gene encoding
ATP-binding cassette transporter 1.
Nature Genetics 22:352-5, 1999
PMID: 10431238