Loeys-Dietz Syndrome 2 (LDS2)

Alias:

Aortic Aneurysm, Familial Thoracic 3

Marfan Syndrome Type 2

Lds2

Aat3

Marfan Syndrome, Type Ii, Formerly

Marfan Syndrome Type Ii

Mfs2

Aneurysm, Aortic, Thoracic, Familial, Type 3

Thoracic Aortic Aneurysms and Dissection 2

Familial Aortic Aneurysm Thoracic Type 3

Familial Throacic Aortic Aneurysm 3

Loeys-Dietz Syndrome, Type 2

Loeys-Dietz Syndrome Type 2

Taad2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Loeys-Dietz Syndrome 2, also known as aortic aneurysm, familial thoracic 3, is related to loeys-dietz syndrome 1 and aortic aneurysm. An important gene associated with Loeys-Dietz Syndrome 2 is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and NF-kappaB Pathway. Affiliated tissues include eye and bone, and related phenotypes are inguinal hernia and umbilical hernia

Related ID：

MALACARDS：LYS018

OMIM：610168

MESH：D055947