Familial thoracic aortic aneurysm
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:cardiovascular_disease
genetic disorder |
| gptkbp:affects |
gptkb:aorta
|
| gptkbp:cause |
aortic dissection
aortic rupture |
| gptkbp:diagnosedBy |
genetic testing
imaging studies |
| gptkbp:hasAssociatedGene |
gptkb:SMAD3
gptkb:MYH11 gptkb:TGFBR2 gptkb:TGFBR1 gptkb:FBN1 gptkb:ACTA2 |
| gptkbp:hasGeneticBasis |
autosomal dominant inheritance
|
| gptkbp:hasOrphanetID |
ORPHA:284550
|
| https://www.w3.org/2000/01/rdf-schema#label |
Familial thoracic aortic aneurysm
|
| gptkbp:ICD-10_code |
I71.2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
132900
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
aortic aneurysm
|
| gptkbp:treatment |
medical management
surgical repair |
| gptkbp:bfsParent |
gptkb:FBN1_gene
gptkb:FBN1 gptkb:16p13.13 |
| gptkbp:bfsLayer |
7
|