Condition

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
First Described
1904 2
Prevalence Band
Rare (Under 1 in 2000) 3
Causative Agent
Causative Agent (category)
Genetic / Hereditary 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
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2. Werner syndrome (Wikipedia)
Wikipedia intro: Werner syndrome: 'rare autosomal recessive disorder'; Otto Werner's 1904 dissertation on 4 siblingsView the Source
3. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 902
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 902
Quote, Orphanet epidemiology, ORPHAcode 902
"PrevalenceClass": "1-9 / 1 000 000", "PrevalenceGeographic": "United States", "PrevalenceQualification": "Value and class", "PrevalenceType": "Point prevalence"
View the Source
Wikidata: Werner syndrome
Wikidata Q1154619, class allow-list match (w-wdresolver-0926)View the Source
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