Aneurysm-osteoarthritis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aneurysm-osteoarthritis syndrome | |
| fr | Syndrome d'arthrose-anévrisme | |
| de | Aneurysma-Osteoarthritis-Syndrom | AOS |
| es | Síndrome de aneurisma-osteoartritis | |
| it | Sindrome aneurisma-osteoartrite | AOS |
| nl | Aneurysma - osteoartritis-syndroom | |
| pt | Síndrome aneurisma - osteoartrite | |
| pl | Zespół tętniaka i zapalenia kości i stawów | AOS |
| cs | Syndrom zahrnující aneuryzma a osteoartrózu | AOS |
| uk | Аневризмоостеоартрозний синдром | |
| zh | 动脉瘤-骨关节炎综合征 | |
| tr | Anevrizma-osteoartrit sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613795 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD28.0Y | NTBT | index | validated |
| MONDO | 0013426 | E | validated | |
| UMLS | C4760764 | E | validated | |
| GARD | 10997 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:284993Marfan syndrome and Marfan-related disorders
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:285014Rare disease with thoracic aortic aneurysm and aortic dissection
rare genetic diseases; rare surgical thoracic diseases; rare circulatory system diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMAD3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6769 | ENSG00000166949 | 603109 | 15q22.33 | SMAD family member 3 | 22167769[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 45 cases | Worldwide | Case(s) | Validated | 22167769[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
51 annotations · validated 2019-02-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002617 | Dilatation | |
| HP:0011645 | Dilatation of the sinus of Valsalva | |
| HP:0001763 | Pes planus | |
| Frequent (79-30%) | ||
| HP:0025487 | Abnormality of bladder morphology | |
| HP:0002647 | Aortic dissection | |
| HP:0001659 | Aortic regurgitation | |
| HP:0001166 | Arachnodactyly | |
| HP:0005294 | Arterial dissection | |
| HP:0005116 | Arterial tortuosity | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0000193 | Bifid uvula | |
| HP:0000978 | Bruising susceptibility | |
| HP:0012432 | Chronic fatigue | |
| HP:0000689 | Dental malocclusion | |
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0002315 | Headache | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000023 | Inguinal hernia | |
| HP:0005086 | Knee osteoarthritis | |
| HP:0000276 | Long face | |
| HP:0000272 | Malar flattening | |
| HP:0002076 | Migraine | |
| HP:0001653 | Mitral regurgitation | |
| HP:0002758 | Osteoarthritis | |
| HP:0004268 | Osteoarthritis of the small joints of the hand | |
| HP:0003179 | Protrusio acetabuli | |
| HP:0002650 | Scoliosis | |
| HP:0001065 | Striae distensae | |
| HP:0001537 | Umbilical hernia | |
| HP:0000139 | Uterine prolapse | |
| Occasional (29-5%) | ||
| HP:0005112 | Abdominal aortic aneurysm | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0005110 | Atrial fibrillation | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0100775 | Dural ectasia | |
| HP:0008419 | Intervertebral disc degeneration | |
| HP:0001382 | Joint hypermobility | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0010886 | Osteochondritis Dissecans | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0000278 | Retrognathia | |
| HP:0003302 | Spondylolisthesis | |
| Very rare (<4-1%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000939 | Osteoporosis | |
| HP:0001643 | Patent ductus arteriosus | |
| Excluded (0%) | ||
| HP:0001363 | Craniosynostosis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 22167769[PMID]_21217753[PMID]_21778426[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284984
- This record as JSON: /data/d/284984.json