Hereditary hypoceruloplasminemia.
Serum ceruloplasmin values of less than 21.0 mg/100 ml in males or less than 23.0 mg/100 ml in females were observed in 14 out of 156 otherwise healthy members of a pedigree. The hypoceruloplasminemia segregated in a fashion suggesting that the affected individuals are heterozygous for a mutant gene that results in hypoceruloplasminemia. This mutant gene could be a Wilson's disease gene, but excessive copper loading was absent. It is suggested that hereditary hypoceruloplasminemia may be a benign entity distinct from Wilson's disease.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000378:metabolism; D005260:Female; D005796:Genes; D006527:Hepatolenticular Degeneration / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007019:Hypoproteinemia / Q000235:genetics; D008297:Male; D008664:Metal Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
D003300:Copper; D002570:Ceruloplasmin