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Werner syndrome

Endocrine, Nutritional and Metabolic Diseases

Werner syndrome is a rare autosomal recessive disorder characterized by the appearance of premature aging. Affected people display premature graying and hair loss, cataracts, wrinkled skin, short stature and reduced fertility, with common complications including cardiovascular disease, bone loss and increased cancer risk. It is caused by mutations in the WRN gene on chromosome 8, which disrupt DNA repair mechanisms, so that without a working WRN protein cells accumulate damage over time. German ophthalmologist Otto Werner first identified the condition in 1904 after observing it in four siblings, and the term Werner syndrome was formally established between 1934 and 1941.

Facts
Classification
ICD-10 Chapter
IV: Endocrine, Nutritional and Metabolic Diseases 1
Communicable or Non-communicable
Non-Communicable 2
Transmission Route
Non-Transmissible 2
Causative Agent
Causative Agent (category)
Genetic / Hereditary 2
First Described
1904 2
Sources
1. World Health Organization: ICD-10 Version:2019, Chapter IV, E20-E35
World Health OrganizationCategory E34.8
Quote, Category E34.8
E34.8 Other specified endocrine disorders
View the Source
2. Werner syndrome (Wikipedia)
Wikipedia intro: Werner syndrome: 'rare autosomal recessive disorder'; Otto Werner's 1904 dissertation on 4 siblingsView the Source
Wikidata: Werner syndrome
Wikidata Q1154619, class allow-list match (w-wdresolver-0926)View the Source
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