vascular Ehlers-Danlos syndrome
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease connective tissue disorder |
| gptkbp:alsoKnownAs |
gptkb:vEDS
|
| gptkbp:category |
gptkb:Ehlers-Danlos_syndromes
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1967
|
| https://www.w3.org/2000/01/rdf-schema#label |
vascular Ehlers-Danlos syndrome
|
| gptkbp:ICD-10_code |
Q79.6
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL3A1_gene
|
| gptkbp:namedAfter |
gptkb:Edvard_Ehlers
gptkb:Henri-Alexandre_Danlos |
| gptkbp:OMIM |
130050
|
| gptkbp:prevalence |
1 in 50,000 to 1 in 200,000
|
| gptkbp:riskFactor |
life-threatening complications
|
| gptkbp:symptom |
easy bruising
arterial rupture uterine rupture characteristic facial appearance intestinal rupture thin translucent skin |
| gptkbp:treatment |
gptkb:celiprolol
symptomatic management avoidance of trauma regular vascular monitoring |
| gptkbp:bfsParent |
gptkb:Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
6
|