Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

aortic aneurysm, familial thoracic 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aortic aneurysm, familial thoracic 7

MONDO:0013418

Also known as:aortic aneurysm, familial thoracic type 7AAT7aortic dissection, familial, with or without aortic aneurysm

Overview

GeneticsAutosomal dominant · MYLK (chr 3)

OnsetADULT

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: Aortic rupture and Ascending aortic dissection; and sometimes findings: Descending aortic dissection and Sudden death. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Aortic rupture, Descending aortic dissection, Ascending aortic dissection

Age of onset: adulthood.

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.

MYLK encodes myosin light chain kinase (1,914 aa). Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Highest expression in Esophagus Muscularis (441.2 TPM) and Colon Sigmoid (430.1 TPM).

Aortic aneurysm, familial thoracic 7 is associated with mutations in the MYLK gene on chromosome 3.

The MYLK protein participates in MYLK (MLCK) Active Calmodulin Binding pathway.

MYLK is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 3.5.

Diagnosis

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

Biomarker and diagnostic research for aortic aneurysm, familial thoracic 7 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 7.

153 publications have been identified in PubMed for aortic aneurysm, familial thoracic 7. Research spans Basic Science / Preclinical (27%), Epidemiology / Natural History (20%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Laboratory research	42	27%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613780

GARD

Genetic and Rare Diseases Info Center

GARD:15706

Questions for Your Care Team

→Should I pursue genetic testing for MYLK, 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?

← Back to All Diseases

Kisho

aortic aneurysm, familial thoracic 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

aortic aneurysm, familial thoracic 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications