Disease Information for Wolframs/DIDMOAD syndrome

gene locus 4p16-1;WOLFRAM SYNDROME ;WFS; DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS; DIDMOAD; Gene map locus 4p16-1; caused by mutation in the gene encoding wolframin (WFS1) on chromosome 4p; Another locus for the disorder has been mapped to 4q (WFS2); sometimes referred to as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness); consanguineous mating; both diabetes mellitus and diabetes insipidus; Diabetes mellitus developed at ages 9 and 5 years; Autosomal recessive inheritance; diabetes insipidus; optic atrophy, nerve deafness, and diabetes mellitus; onset in the first year of life; first-cousin parents often; true Vasopressin deficiency in Wolfram syndrome, thus confirming the central origin of the diabetes insipidus in this disorder; rarely developed megaloblastic and sideroblastic anemia, neutropenia, and borderline thrombocytopenia with decreased thiamine pyrophosphate in erythrocytes and thiamine pyrophosphokinase activity with reversal on treatment with thiamine; the hematologic findings returned to normal and insulin requirements had decreased: proposed abnormality of thiamine metabolism is responsible for the multisystem manifestations of DIDMOAD; highly variable clinical picture of the Wolfram syndrome may include neurologic abnormalities such as nystagmus, mental retardation, and seizures and MRIs showed widespread atrophic changes throughout the brain in some cases;

[OMIM/NIH 2006]----------------------------

Wolfram Syndrome

DIDMOAD: Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness Disorder; Wolfram syndrome is the inherited association of childhood-onset diabetes mellitus and progressive-onset optic atrophy; All people affected by Wolfram syndrome have juvenile-onset diabetes mellitus and degeneration of the optic nerve (optic atrophy); In addition, about 70 to 75% of those affected develop diabetes insipidus and about two-thirds develop auditory nerve deafness; Another name for the syndrome is DIDMOAD, which refers to diabetes insipidus, diabetes mellitus, optic atrophy, and deafness;

[NORD 2005]------------------

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