Statements (45)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:heritable_connective_tissue_disorder gptkb:rare_disease |
| gptkbp:affects |
gptkb:collagen_type_III
|
| gptkbp:alternativeName |
gptkb:vascular_Ehlers-Danlos_syndrome
gptkb:vEDS |
| gptkbp:characterizedBy |
easy bruising
arterial rupture uterine rupture intestinal rupture thin, translucent skin joint hypermobility (small joints) visible veins |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
Barabas, 1967
|
| gptkbp:hasInheritanceRisk |
50% for offspring of affected parent
|
| gptkbp:hasNoCure |
true
|
| gptkbp:hasOrphanetID |
ORPHA:98255
|
| gptkbp:ICD-10_code |
Q79.6
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:managedBy |
genetic counseling
avoidance of trauma beta-blockers (celiprolol) regular vascular imaging |
| gptkbp:mutationAssociatedWith |
gptkb:COL3A1_gene
|
| gptkbp:OMIM |
130050
|
| gptkbp:prevalence |
1 in 50,000 to 1 in 200,000
|
| gptkbp:prognosis |
reduced life expectancy
|
| gptkbp:supportersGroup |
gptkb:Genetic_and_Rare_Diseases_Information_Center_(GARD)
The Ehlers-Danlos Society VEDS Movement |
| gptkbp:symptom |
gptkb:pneumonia
organ rupture varicose veins arterial dissection acrogeria arterial aneurysm carotid-cavernous sinus fistula gingival recession premature birth (in affected mothers) spontaneous bruising |
| gptkbp:bfsParent |
gptkb:Ehlers-Danlos_syndromes
|
| gptkbp:bfsLayer |
9
|
| https://www.w3.org/2000/01/rdf-schema#label |
vascular EDS
|