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aortic aneurysm, familial thoracic 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aortic aneurysm, familial thoracic 8

MONDO:0014187

Also known as:PRKG1 familial thoracic aortic aneurysm and aortic dissectionaortic aneurysm, familial thoracic type 8familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1

Overview

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.

GeneticsAutosomal dominant · PRKG1 (chr 10)

ResearchLimited published research (6 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: Abdominal aortic aneurysm and Ascending aortic dissection; and sometimes findings: Descending aortic dissection. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Coronary artery dissection, Abdominal aortic aneurysm, Coronary artery aneurysm

Genetic Landscape

PRKG1 function has not been fully characterized.

Aortic aneurysm, familial thoracic 8 is associated with mutations in the PRKG1 gene on chromosome 10.

Diagnosis

Genetic testing for PRKG1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for aortic aneurysm, familial thoracic 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 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 8.

6 publications have been identified in PubMed for aortic aneurysm, familial thoracic 8. Research spans Case Report / Case Series (33%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

Sayama K (2025). [PMID: 41314713](https://pubmed.ncbi.nlm.nih.gov/41314713/). *JACC. Case reports*. [Case Report / Case Series]
Eraqi M (2025). [PMID: 39557048](https://pubmed.ncbi.nlm.nih.gov/39557048/). *The Thoracic and cardiovascular surgeon*. [Epidemiology / Natural History]
Soler LM (2025). [PMID: 40248003](https://pubmed.ncbi.nlm.nih.gov/40248003/). *Journal of vascular surgery cases and innovative techniques*. [Case Report / Case Series]
Mahlmann A (2024). [PMID: 38610603](https://pubmed.ncbi.nlm.nih.gov/38610603/). *Journal of clinical medicine*. [Diagnostic / Biomarker]
Harling LC (2024). [PMID: 39532283](https://pubmed.ncbi.nlm.nih.gov/39532283/). *Aorta (Stamford, Conn.)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615436

GARD

Genetic and Rare Diseases Info Center

GARD:15966

Questions for Your Care Team

→Should I pursue genetic testing for PRKG1, 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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Kisho

aortic aneurysm, familial thoracic 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.

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

aortic aneurysm, familial thoracic 8

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

Explore clinical features

Latest News & Developments

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.

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