Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?
Twenty-one families were selected from the published reports in which the propositus had the triad of juvenile diabetes mellitus, diabetes insipidus, and optic atrophy. The data were consistent with the hypothesis of an autosomal gene which, in the homozygote, causes juvenile diabetes mellitus and one or more of diabetes insipidus, optic atrophy, and nerve deafness. Heterozygotes appear to have an increased probability of developing juvenile diabetes mellitus.
D002648:Child; D003638:Deafness / Q000235:genetics; D003919:Diabetes Insipidus / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009896:Optic Atrophy / Q000235:genetics*; D011336:Probability; D013577:Syndrome