atypical Werner syndrome
Findings
No curated finding names atypical Werner syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.
Definition from the Mondo Disease Ontology (MONDO:0019321), read 2026-09-29. CC BY 4.0.
Features
90 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.
- Abnormal Achilles tendon morphologyHPOHP:0005109
- Very frequent (80% to 99% of cases)
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Very frequent (80% to 99% of cases)
- Abnormal circulating leptin concentrationHPOHP:0004361
- Very frequent (80% to 99% of cases)
- Abnormal hair morphologyHPOHP:0001595
- Very frequent (80% to 99% of cases)
- Abnormal hair quantityHPOHP:0011362
- Very frequent (80% to 99% of cases)
- Abnormal hair whorlHPOHP:0010721
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Abnormal testis morphologyHPOHP:0000035
- Very frequent (80% to 99% of cases)
- Abnormal thorax morphologyHPOHP:0000765
- Very frequent (80% to 99% of cases)
- Abnormality of the pulmonary arteryHPOHP:0004414
- Very frequent (80% to 99% of cases)
- Abnormality of the voiceHPOHP:0001608
- Very frequent (80% to 99% of cases)
- AlopeciaHPOHP:0001596
- Very frequent (80% to 99% of cases)
Show the remaining 78
- Aortic valve calcificationHPOHP:0004380
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the eyebrowHPOHP:0100840
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Very frequent (80% to 99% of cases)
- Calf muscle hypertrophyHPOHP:0008981
- Very frequent (80% to 99% of cases)
- ChondrocalcinosisHPOHP:0000934
- Very frequent (80% to 99% of cases)
- Congestive heart failureHPOHP:0001635
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.
- LMNAHGNC:6636
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: atypical Werner syndrome
- Also called
- atypical progeroid syndrome