Wolfram syndrome, also called DIDMOAD for diabetes insipidus, diabetes mellitus, optic atrophy and deafness, is a rare autosomal recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy and deafness as well as various other possible disorders including neurodegeneration. It is caused by mutations in the WFS1 or CISD2 genes, with WFS1 mutations being more common, and was first described in 1938 by Dr. Don J. Wolfram, who documented the condition in four siblings. Symptoms typically begin between ages 2 and 65, with diabetes mellitus usually appearing around age 6, and the condition affects fewer than 5,000 people in the United States.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Sources
1. Wolfram syndrome (Wikipedia)
Lead paragraph
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness.
Lead paragraph, category
Wolfram syndrome ... is a rare autosomal-recessive genetic disorder.
Lead paragraph, history
Year First Described: 1938 by Dr. Don J. Wolfram, who documented the condition in four siblings.
Lead paragraph, cause
Genetic Cause: Mutations in either the WFS1 or CISD2 genes, with WFS1 mutations being more common.
- Wikipedia intro: Wolfram syndrome: 'rare autosomal-recessive genetic disorder'
View the Source2. Wikidata: Wolfram syndrome
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