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aortic aneurysm, familial thoracic 1 (AAT1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aortic aneurysm, familial thoracic 1

MONDO:0024559

Also known as:AAT1Erdheim cystic medial necrosis of aortaFAA1

Overview

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 very common findings: Mucoid extracellular matrix accumulation; and common findings: Enlarged heart (cardiomegaly), Patent ductus arteriosus, Aortic regurgitation, and Coronary artery atherosclerosis and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	10	Enlarged heart (cardiomegaly), Aortic regurgitation, Coronary artery atherosclerosis

Diagnosis

Biomarker and diagnostic research for aortic aneurysm, familial thoracic 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 12 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 1.

19 publications have been identified in PubMed for aortic aneurysm, familial thoracic 1. Research spans Case Report / Case Series (47%), Clinical Trial Publication (21%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Patient case studies	9	47%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607086

Orphanet

European rare disease database

Orphanet:229

GARD

Genetic and Rare Diseases Info Center

GARD:15408

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

aortic aneurysm, familial thoracic 1

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Salmonella Prostatic Abscess in A Patient with Decompensated Cirrhosis of Liver with Descending Thoracic Aortic Aneurysm: A Rare Clinical Convergence.

aortic aneurysm, familial thoracic 1

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Salmonella Prostatic Abscess in A Patient with Decompensated Cirrhosis of Liver with Descending Thoracic Aortic Aneurysm: A Rare Clinical Convergence.