Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. 3 cases of 'DIDMOAD' syndrome.
Three children with diabetes insipidus, diabetes mellitus, optic atrophy, and high-tone deafness were shown to lack vasopressin, indicative of degeneration of the cells of the hypothalamic supraoptic nuclei. The syndrome being due to a single gene defect, inherited as an autosomal recessive, is therefore likely to be the result of an inborn error of metabolism with variable periods of latency in those affected.
D000293:Adolescent; D002648:Child; D003638:Deafness / Q000150:complications*; D003919:Diabetes Insipidus / Q000150:complications*; D003922:Diabetes Mellitus, Type 1 / Q000150:complications*; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000150:complications*; D013577:Syndrome; D014667:Vasopressins / Q000378:metabolism
D014667:Vasopressins