Ehlers-Danlos syndrome, classical type
GPTKB entity
Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
collagen synthesis
|
| gptkbp:alsoKnownAs |
EDS classical type
|
| gptkbp:category |
heritable connective tissue disorder
|
| gptkbp:complication |
chronic pain
joint dislocation wound healing problems |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
Tschernogobow
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ehlers-Danlos syndrome, classical type
|
| gptkbp:ICD-10_code |
Q79.6
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL5A2_gene
gptkb:COL5A1_gene |
| gptkbp:namedAfter |
gptkb:Edvard_Ehlers
gptkb:Henri-Alexandre_Danlos |
| gptkbp:OMIM |
130000
|
| gptkbp:onset |
congenital
|
| gptkbp:prevalence |
1 in 20,000 to 1 in 40,000
|
| gptkbp:subspecies |
Ehlers-Danlos syndrome
classical type I classical type II |
| gptkbp:symptom |
easy bruising
joint hypermobility atrophic scarring hyperextensible skin |
| gptkbp:treatment |
physical therapy
symptomatic management protective measures |
| gptkbp:bfsParent |
gptkb:COL5A1_gene
gptkb:Type_V_collagen gptkb:COL5A1 |
| gptkbp:bfsLayer |
7
|