Thyroxine binding globulin deficiency in a family with type I hyperlipoproteinaemia.
A familial type I hyperlipoproteinaemia is described in three members of a family of eleven; on the basis of LPL activity and HDL content of plasma three other members of the family have been diagnosed to be heterozygotes without other disturbances in their lipid spectrum. The distribution of this lipid disorder is in accordance with an autosomal recessive inheritance pattern. In this family a second hereditary condition, thyroxine binding globulin deficiency, was found in addition to the hyperlipoproteinaemia. The inheritance of this condition appears to be as an autosomal dominant. An interrelated inheritance pattern of both conditions could not be proved, but both traits may be located on the same chromosome at some distance from another to allow recombination.
D000328:Adult; D005260:Female; D006579:Heterozygote; D006801:Humans; D006949:Hyperlipidemias / Q000150:complications* / Q000235:genetics*; D008075:Lipoproteins, HDL / Q000097:blood; D008077:Lipoproteins, LDL / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013975:Thyroxine-Binding Proteins / Q000172:deficiency*
D008075:Lipoproteins, HDL; D008077:Lipoproteins, LDL; D013975:Thyroxine-Binding Proteins