Rare disease

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Rare disease with thoracic aortic aneurysm and aortic dissection

ORPHA:285014Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ACTA2BGNCOL3A1EFEMP2ELNFBN1FOXE3GATA5HEY2IPO8LOXMAT2AMFAP5MYH11MYLKNKX2-5NOTCH1PRKG1ROBO4SLC2A10SMAD2SMAD3SMAD4SMAD6TGFB2TGFB3TGFBR1TGFBR2THSD4

Orphanet records these genes on 10 more specific entries under this disorder, not on this entry itself:

Aneurysm-osteoarthritis syndromeArterial tortuosity syndromeFamilial aortic dissectionFamilial bicuspid aortic valveFamilial thoracic aortic aneurysm and aortic dissectionLoeys-Dietz syndromeMultisystemic smooth muscle dysfunction syndromeNeonatal Marfan syndromeVascular Ehlers-Danlos syndromeX-linked severe syndromic thoracic aortic aneurysm and dissection

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 17311UMLS C5681014

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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