Aortic Aneurysm, Familial Thoracic 1 (AAT1)

Alias:

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Cystic Medial Necrosis of Aorta

Familial Aortic Dissection

Aortic Aneurysm, Thoracic

Aneurysm, Aortic, Thoracic, Familial, Type 1

Thoracic Aortic Aneurysm Without Rupture

Congenital Aneurysm of Ascending Aorta

Aortic Aneurysm, Familial Thoracic

Dissection of Thoracic Aorta

Aortic Dissection, Familial

Aneurysm of Thoracic Aorta

Thoracic Arterial Aneurysm

Aneurysm, Thoracic Aortic

Aortic Aneurysm Thoracic

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Aorta Aneurysm

Intrathoracic Aneurysm

Thorax Aortic Aneurysm

Thoracic Aneurysm

Thorax Aneurysm

Aat1

Faa1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Aortic Aneurysm, Familial Thoracic 1, also known as thoracic aortic aneurysm, is related to aortic aneurysm, familial thoracic 11 and aortic aneurysm, familial thoracic 10. An important gene associated with Aortic Aneurysm, Familial Thoracic 1 is MYH11 (Myosin Heavy Chain 11), and among its related pathways/superpathways are ERK Signaling and Signaling by TGFB family members. The drugs Acetazolamide and Iodine have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle and spinal cord, and related phenotypes are mucoid extracellular matrix accumulation and cardiomegaly

Related ID：

MALACARDS：ART067

OMIM：607086

MESH：D017545

ICD11：1238851281