Loeys-Dietz Syndrome 1 (LDS1)

Alias:

Furlong Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome

Lds1

Aat5

Aortic Aneurysm, Familial Thoracic 5

Marfanoid Disorder-Craniosynostosis Syndrome

Aneurysm, Aortic, Thoracic, Familial, Type 5

Familial Throacic Aortic Aneurysm 5

Familial Thoracic Aortic Aneurysm 5

Loeys-Dietz Syndrome, Type 2a

Loeys-Dietz Syndrome, Type 1

Loeys-Dietz Syndrome Type 1

Ldas

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Loeys-Dietz Syndrome 1, also known as furlong syndrome, is related to loeys-dietz syndrome 2 and loeys-dietz syndrome 5. An important gene associated with Loeys-Dietz Syndrome 1 is TGFBR1 (Transforming Growth Factor Beta Receptor 1), and among its related pathways/superpathways are ERK Signaling and Toll-like receptor signaling pathway. Affiliated tissues include skin and uterus, and related phenotypes are ascending aortic dissection and pulmonary artery aneurysm

Related ID：

MALACARDS：LYS019

OMIM：609192

MESH：D055947