classical Ehlers-Danlos syndrome
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
Ehlers-Danlos syndrome subtype |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:category |
heritable connective tissue disorder
|
| gptkbp:causedBy |
mutation in COL5A1 gene
mutation in COL5A2 gene |
| gptkbp:complication |
chronic pain
wound healing problems joint dislocations |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1936
|
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
ORPHA:2869
|
| https://www.w3.org/2000/01/rdf-schema#label |
classical Ehlers-Danlos syndrome
|
| gptkbp:ICD-10_code |
Q79.6
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
gptkb:Edvard_Ehlers
gptkb:Henri-Alexandre_Danlos |
| gptkbp:OMIM |
130000
|
| gptkbp:prevalence |
1 in 20,000 to 1 in 40,000
|
| gptkbp:symptom |
easy bruising
joint hypermobility atrophic scarring hyperextensible skin |
| gptkbp:synonym |
gptkb:Ehlers-Danlos_syndrome_classic_type
gptkb:cEDS |
| gptkbp:treatment |
physical therapy
pain management protective measures for skin |
| gptkbp:bfsParent |
gptkb:Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
6
|