Wolfram Syndrome
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.
Year introduced: 1986
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Subheadings:
Tree Number(s): C09.218.458.341.186.500.750, C10.292.700.225.500.980, C10.574.500.662.980, C10.597.751.418.341.186.500.750, C10.597.751.941.162.625.750, C11.270.564.980, C11.640.451.451.980, C11.966.075.375.750, C12.050.351.968.419.135.875, C12.200.777.419.135.875, C12.950.419.135.875, C16.131.077.299.750, C16.320.290.564.980, C16.320.400.630.980, C18.452.394.750.124.960, C19.246.267.960, C19.700.159.875
MeSH Unique ID: D014929
Entry Terms:
- 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
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