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Werner syndrome

Synonyms
Werner's syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Werner Syndrome
Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Junko Oshima
George M Martin
Fuki M Hisama
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Available tests

57 tests are in the database for this condition.

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Clinical tests (56 available)

Biochemical Genetics Tests

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Genes See tests for all associated and related genes

  • Also known as: RECQ3, RECQL2, RECQL3, WRN
    Summary: WRN RecQ like helicase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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