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aortic aneurysm, familial thoracic 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aortic aneurysm, familial thoracic 9

MONDO:0014514

Also known as:MFAP5 familial thoracic aortic aneurysm and aortic dissectionaortic aneurysm, familial thoracic type 9familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5

Overview

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.

GeneticsAutosomal dominant · MFAP5 (chr 12)

ResearchLimited published research (2 articles)

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 common findings: Arachnodactyly, Dural ectasia, High palate, and Aortic tortuosity; and sometimes findings: Atrial fibrillation, Pectus excavatum, Pectus carinatum, and Ascending aortic dissection and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Thoracic aortic aneurysm, Atrial fibrillation, Aortic tortuosity

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.

MFAP5 encodes microfibril associated protein 5 (173 aa). May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity. Highest expression in Nerve Tibial (238.5 TPM) and Adipose Subcutaneous (140.0 TPM).

Aortic aneurysm, familial thoracic 9 is associated with mutations in the MFAP5 gene on chromosome 12.

The MFAP5 protein participates in MFAP2, MFAP5 bind microfibrils and Fibrillins:MFAP2,MFAP5:Tropoelastin aggregate pathways.

MFAP5 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for MFAP5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 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 9.

2 publications have been identified in PubMed for aortic aneurysm, familial thoracic 9. Research spans Review / Meta-Analysis (50%) and Clinical Trial Publication (50%).

Recent Publications

Buja LM (2025). [PMID: 40286354](https://pubmed.ncbi.nlm.nih.gov/40286354/). *JACC. Advances*. [Review / Meta-Analysis]
Eraqi M (2025). [PMID: 39557048](https://pubmed.ncbi.nlm.nih.gov/39557048/). *The Thoracic and cardiovascular surgeon*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616166

GARD

Genetic and Rare Diseases Info Center

GARD:16067

Questions for Your Care Team

→Should I pursue genetic testing for MFAP5, 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 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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