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aortic aneurysm, familial thoracic 10 (AAT10) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aortic aneurysm, familial thoracic 10

MONDO:0014950

Also known as:AAT10LOX familial thoracic aortic aneurysm and aortic dissectionaortic aneurysm, familial thoracic type 10

Overview

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.

GeneticsAutosomal dominant · LOX (chr 5)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Aortic root aneurysm; and common findings: Bicuspid aortic valve and Ascending tubular aorta aneurysm. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	9	Aortic arch aneurysm, Thoracic aortic aneurysm, Abdominal aortic aneurysm

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LOX encodes lysyl oxidase (417 aa). Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. Regulator of Ras expression. Highest expression in Cells Cultured fibroblasts (296.4 TPM) and Artery Aorta (45.9 TPM).

Aortic aneurysm, familial thoracic 10 is associated with mutations in the LOX gene on chromosome 5.

The LOX protein participates in Formation of hydroxyallysine by LOX pathway.

LOX is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for LOX is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for aortic aneurysm, familial thoracic 10.

1 publication has been identified in PubMed for aortic aneurysm, familial thoracic 10. Research spans Case Report / Case Series (100%).

Recent Publications

Yang WL (2025). [PMID: 40581795](https://pubmed.ncbi.nlm.nih.gov/40581795/). *European heart journal*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617168

GARD

Genetic and Rare Diseases Info Center

GARD:16207

Questions for Your Care Team

→Should I pursue genetic testing for LOX, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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aortic aneurysm, familial thoracic 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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