Ehlers-Danlos syndrome type IV
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:alsoKnownAs |
gptkb:vascular_Ehlers-Danlos_syndrome
|
| gptkbp:characterizedBy |
easy bruising
distinctive facial features arterial rupture uterine rupture intestinal rupture thin, translucent skin |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
Barabas, 1967
|
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ehlers-Danlos syndrome type IV
|
| gptkbp:ICD-10_code |
Q79.6
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:managedBy |
symptomatic treatment
|
| gptkbp:mutationAssociatedWith |
gptkb:COL3A1_gene
|
| gptkbp:namedAfter |
gptkb:Edvard_Ehlers
gptkb:Henri-Alexandre_Danlos |
| gptkbp:OMIM |
130050
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
life-threatening complications
|
| gptkbp:bfsParent |
gptkb:COL3A1_gene
gptkb:Type_III_collagen gptkb:COL3A1 |
| gptkbp:bfsLayer |
7
|