Congenital aneurysm of ascending aorta: genes and variants
Congenital aneurysm of ascending aorta is linked to 1 analyzed protein (LOX). 2 DNA variants are known to cause it; 4 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Congenital aneurysm of ascending aorta
LOX: Protein-lysine 6-oxidase
It oxidatively initiates covalent crosslinking of collagen and elastin, strengthening arteries and other extracellular matrices. Pathogenic loss-of-function variants can weaken the aortic wall and predispose to familial thoracic aortic aneurysm and dissection.
2 disease-causing and 0 uncertain variants in LOX are linked to Congenital aneurysm of ascending aorta.
Weakly linked (only a few uncertain records): COL2A1, MYH11, MYLK and PKD1.
Known disease-causing variants in Congenital aneurysm of ascending aorta
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LOX Q267P | 267 | Lysyl-oxidase like | Disease-causing |
| LOX S280I | 280 | Lysyl-oxidase like | Disease-causing |
Diseases related to Congenital aneurysm of ascending aorta
- Familial thoracic aortic aneurysm and aortic dissection, also linked to LOX
- Aortic aneurysm, familial thoracic 7, also linked to LOX
- Marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections, also linked to LOX
- Cutis laxa, also linked to LOX
Frequently asked questions
Which genes are linked to Congenital aneurysm of ascending aorta?
In CATVariant, Congenital aneurysm of ascending aorta is linked to 1 analyzed protein: LOX (Protein-lysine 6-oxidase).
How many genetic variants are linked to Congenital aneurysm of ascending aorta?
6 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Congenital aneurysm of ascending aorta look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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