Ehlers-Danlos Syndrome, Vascular Type (EDSVASC)

Ehlers-Danlos Syndrome, Vascular Type(来自ICD-11)
别称:
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
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参考文献
MALACARDS
AR
AD
Newborn
1-9/100000
13
104
166

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