Ehlers-Danlos syndrome, classic-like, 3
MONDO:0971044Mondo
Findings
No curated finding names Ehlers-Danlos syndrome, classic-like, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
18 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.
- Aortic arch aneurysmHPOHP:0005113
- 1 of 1 reported patient
- Atrophic scarsHPOHP:0001075
- 3 of 3 reported patients
- Bruising susceptibilityHPOHP:0000978
- 3 of 3 reported patients
- Joint hypermobilityHPOHP:0001382
- 3 of 3 reported patients
- Multiple joint dislocationHPOHP:0012095
- 3 of 3 reported patients
- Piezogenic pedal papulesHPOHP:0025509
- 3 of 3 reported patients
- Prolonged bleeding timeHPOHP:0003010
- 3 of 3 reported patients
- Tendon ruptureHPOHP:0100550
- 3 of 3 reported patients
- Thickened mitral valve cuspHPOHP:6000342
- 1 of 1 reported patient
- Venous insufficiencyHPOHP:0005293
- 2 of 2 reported patients
- Abnormal factor VIII activityHPOHP:0030976
- 0 of 2 reported patients
- Abnormal platelet countHPOHP:0011873
- 0 of 3 reported patients
Show the remaining 6
- Abnormal prothrombin timeHPOHP:0032199
- 0 of 3 reported patients
- Abnormality of circulating fibrinogenHPOHP:0011898
- 0 of 2 reported patients
- Ascending tubular aorta aneurysmHPOHP:0004970
- 0 of 1 reported patient
- CardiomyopathyHPOHP:0001638
- 0 of 3 reported patients
- Hyperextensible skinHPOHP:0000974
- 0 of 3 reported patients
- Reduced von Willebrand factor activityHPOHP:0008330
- 0 of 2 reported patients
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.
- THBS2HGNC:11786
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of