familial thoracic aortic aneurysm and aortic dissection
Findings
No curated finding names familial thoracic aortic aneurysm and aortic dissection yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.
Definition from the Mondo Disease Ontology (MONDO:0019625), read 2026-09-29. CC BY 4.0.
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of connective tissueHPOHP:0003549
- Very frequent (80% to 99% of cases)
- Cutis marmorataHPOHP:0000965
- Very frequent (80% to 99% of cases)
- Mucoid extracellular matrix accumulationHPOHP:0200146
- Very frequent (80% to 99% of cases)
- Abnormal left ventricular functionHPOHP:0005162
- Frequent (30% to 79% of cases)
- Abnormality iris morphologyHPOHP:0000525
- Frequent (30% to 79% of cases)
- Aortic regurgitationHPOHP:0001659
- Frequent (30% to 79% of cases)
Show the remaining 29
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Paroxysmal dyspneaHPOHP:0012763
- Frequent (30% to 79% of cases)
- Abdominal aortic aneurysmHPOHP:0005112
- Occasional (5% to 29% of cases)
- Abnormal sternum morphologyHPOHP:0000766
- Occasional (5% to 29% of cases)
- Aortic dissectionHPOHP:0002647
- Occasional (5% to 29% of cases)
- Aortic root aneurysmHPOHP:0002616
- Occasional (5% to 29% of cases)
Genes
21 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FBN1HGNC:3603
- Definitive · ClinGen · Unknown · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
- MYH11HGNC:7569
- Definitive · ClinGen · Unknown · 2016
- Supportive · Orphanet · Autosomal dominant · 2021
- TGFB2HGNC:11768
- Definitive · ClinGen · Unknown · 2016
- Supportive · Orphanet · Autosomal dominant · 2021
- LOXHGNC:6664
- Strong · ClinGen · Unknown · 2016
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (9)
- aortic aneurysm, familial thoracic 1
- aortic aneurysm, familial thoracic 10
- aortic aneurysm, familial thoracic 12
- aortic aneurysm, familial thoracic 2
- aortic aneurysm, familial thoracic 4
- aortic aneurysm, familial thoracic 6
- aortic aneurysm, familial thoracic 7
- aortic aneurysm, familial thoracic 8
- aortic aneurysm, familial thoracic 9
Other names
10 names
Resolves to: familial thoracic aortic aneurysm and aortic dissection
- Also called
- Erdheim diseasefamilial aortic dissectionfamilial non-syndromic TAADfamilial TAADFTAADnonsyndromic familial thoracic aortic aneurysm and dissectionnonsyndromic heritable thoracic aortic diseasenonsyndromic HTADns-FTAADnsHTAD