Werner syndrome
Findings
No curated finding names Werner syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.
Definition from the Mondo Disease Ontology (MONDO:0010196), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Miscarriage · Young adult onset
HPO, annotations 2026-09-02
Features
76 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormally high-pitched voiceHPOHP:0001620
- 2 of 2 reported patients
- Achilles tendon calcificationHPOHP:0025441
- 2 of 2 reported patients
- Alopecia of scalpHPOHP:0002293
- 1 of 1 reported patient · Young adult onset
- Bird-like faciesHPOHP:0000320
- 1 of 1 reported patient
- Body acheHPOHP:0033047
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Convex nasal ridge
Show the remaining 64
- HyperglycemiaHPOHP:0003074
- 2 of 2 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 2 of 2 reported patients
- Low back painHPOHP:0003419
- 1 of 1 reported patient
- Nail dystrophyHPOHP:0008404
- 1 of 1 reported patient
- Plantar hyperkeratosisHPOHP:0007556
- 1 of 1 reported patient
- Premature graying of hairHPOHP:0002216
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WRNHGNC:12791
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: Werner syndrome
- Also called
- adult premature aging syndromeadult progeriaWerner's syndromeWS