Loeys-Dietz Syndrome 3 (LDS3)

Loeys-Dietz Syndrome 3(来自ICD-11)

别称:

Aneurysm-Osteoarthritis Syndrome

Loeys-Dietz Syndrome with Osteoarthritis

Aneurysms-Osteoarthritis Syndrome

Lds3

Lds1c

Loeys-Dietz Syndrome, Type 1c, Formerly

Loeys-Dietz Syndrome Type 1c

Loeys-Dietz Syndrome, Type 3

Loeys-Dietz Syndrome 1c

Lds1c, Formerly

Aos

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Loeys-Dietz Syndrome 3, also known as aneurysm-osteoarthritis syndrome, is related to supravalvular aortic stenosis and loeys-dietz syndrome 1. An important gene associated with Loeys-Dietz Syndrome 3 is SMAD3 (SMAD Family Member 3), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include heart and bone, and related phenotypes are pes planus and dilatation of the sinus of valsalva

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