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Apolipoprotein A-I deficiency

Orpha number ORPHA425
Prevalence of rare diseases -
Inheritance -
Age of onset -
ICD 10 code
  • E78.6
MIM number -
Synonym(s) Familial hypoalphalipoproteinemia

Summary

Several families have been reported with permanently isolated low plasma HDL cholesterol (see hypoalphalipopproteinemias), with a dominant mode of inheritance (i.e. only one transmitting parent, himself with low HDL). These dyslipidemias may be silent, however corneal opacities, amyloid deposits, or atherosclerosis are reported. Heterozygous mutations (only one defective chromosome) have been described on the apolipoprotein A1 and the ABC1 genes. *Author: P. Benlian, M.D.,PH.D. (Sep. 2000)*

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