aneurysm-osteoarthritis syndrome
MONDO:0013426Mondo
Findings
No curated finding names aneurysm-osteoarthritis syndrome 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
84 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.
- Dilatation of the sinus of ValsalvaHPOHP:0011645
- 8 of 42 reported patients
- Very frequent (80% to 99% of cases)
- Pes planusHPOHP:0001763
- 99 of 139 reported patients
- Very frequent (80% to 99% of cases)
- Vascular dilatationHPOHP:0002617
- Very frequent (80% to 99% of cases)
- Intervertebral disk degenerationHPOHP:0008419
- 94 of 128 reported patients
- Occasional (5% to 29% of cases)
- Osteochondritis dissecansHPOHP:0010886
- 13 of 18 reported patients
- Occasional (5% to 29% of cases)
- Thoracic aortic aneurysmHPOHP:0012727
- 28 of 39 reported patients
- Aortic aneurysmHPOHP:0004942
- 67 of 109 reported patients
- Dural ectasiaHPOHP:0100775
- 11 of 18 reported patients
- Occasional (5% to 29% of cases)
- Long faceHPOHP:0000276
- 11 of 18 reported patients
- Frequent (30% to 79% of cases)
- Abnormal bladder morphologyHPOHP:0025487
- Frequent (30% to 79% of cases)
- Aortic dissectionHPOHP:0002647
- 12 of 32 reported patients
- Frequent (30% to 79% of cases)
- Aortic regurgitationHPOHP:0001659
- 4 of 22 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 72
- ArachnodactylyHPOHP:0001166
- 42 of 125 reported patients
- Frequent (30% to 79% of cases)
- Arterial dissectionHPOHP:0005294
- Frequent (30% to 79% of cases)
- Arterial tortuosityHPOHP:0005116
- 11 of 26 reported patients
- Frequent (30% to 79% of cases)
- Atypical scarring of skinHPOHP:0000987
- Frequent (30% to 79% of cases)
- Bifid uvulaHPOHP:0000193
- 14 of 46 reported patients
- Frequent (30% to 79% of cases)
- Bruising susceptibilityHPOHP:0000978
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.
- SMAD3HGNC:6769
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: aneurysm-osteoarthritis syndrome
- Also called
- Loeys-Dietz syndrome type 3