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Wolfram's syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Wolfram's syndrome:

  • this is a rare autosomal recessive condition that predisposes to the development of type 1 diabetes mellitus (DM) and optic atrophy (OA)
  • other clinical features can include diabetes insipidus (DI) and deafness D) (when these are present the condition is often referred to as DIDMOAD)
  • other possible conditions that may occur include renal tract abnormalities, psychiatric disorders, short stature and hypogonadism
    • renal abnormalities associted with Wolfram's syndrome include hydrouteronephrosis and bladder abnormalities
  • Wolfram syndrome is caused by a mutation in the WFS1 gene
    • the gene has been mapped to chromosome 4p16.1
      • WFS1 is an 8 exon gene encoding for a 890 amino-acid protein called wolframin
        • the wolframin protein is believed to code for a novel endoplasmic reticulum calcium channel.
    • inheritance of Wolfram's syndrome of two mutant alleles (i.e. it is an autosomal recessive disorder)


  1. Strom TM et al.. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 1998;7:2021-8.

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