Wolfram Syndrome

Wolframs syndrom

Engelsk definition

A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.

Svenska synonymer

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Engelska synonymer

Syndrome, Wolfram Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness DIDMOAD Syndrome DIDMOADUD Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness DIDMOAD Wolfram Syndrome 1