Ehlers-Danlos Syndrome, Cardiac Valvular Type (EDSCV)

Alias:

Cardiac-Valvular Ehlers-Danlos Syndrome

Cardiac-Valvular Eds

Edscv

Cveds

Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form

Ehlers-Danlos Syndrome, Cardiac Valvular Form

Ehlers-Danlos Syndrome Cardiac Valvular Type

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ehlers-Danlos Syndrome, Cardiac Valvular Type, also known as cardiac-valvular ehlers-danlos syndrome, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and brittle bone disorder. An important gene associated with Ehlers-Danlos Syndrome, Cardiac Valvular Type is COL1A2 (Collagen Type I Alpha 2 Chain). Affiliated tissues include skin and heart, and related phenotypes are abnormal heart valve morphology and mitral regurgitation

Related ID：

MALACARDS：EHL061

OMIM：225320

MESH：D004535