Ehlers-Danlos Syndrome, Vascular Type (EDSVASC)

Alias:

Eds Iv

Sack-Barabas Syndrome

Vascular Ehlers-Danlos Syndrome

Veds

Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant

Vascular Type Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, Type Iv

Ehlers-Danlos Syndrome, Type 4

Ehlers-Danlos Syndrome Type 4

Arterial-Ecchymotic Eds

Vascular Eds

Edsvasc

Eds4

Autosomal Dominant Type Iv Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, Sack-Barabas Type

Ehlers-Danlos Syndrome, Ecchymotic Type

Ehlers-Danlos Syndrome Ecchymotic Type

Ehlers-Danlos Syndrome, Type 4 Variant

Ehlers-Danlos Syndrome, Arterial Type

Ehlers-Danlos, Vascular Type Syndrome

Ehlers-Danlos Syndrome Arterial Type

Ehlers-Danlos Syndrome 4

Eds Type Iv

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ehlers-Danlos Syndrome, Vascular Type, also known as eds iv, is related to loeys-dietz syndrome 1 and varicose veins, and has symptoms including hemoptysis An important gene associated with Ehlers-Danlos Syndrome, Vascular Type is COL3A1 (Collagen Type III Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Celiprolol and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are hypertension and global developmental delay

Related ID：

MALACARDS：EHL052

OMIM：130050

MESH：D004535