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Concept information

Preferred term

Wolfram Syndrome  

Type

  • Topical Descriptor

Entry terms

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

Scope note

  • 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.

History note

  • 86

In other languages

URI

http://www.yso.fi/onto/mesh/D014929

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