Statements (108)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:skin
gptkb:skeletal_muscle blood vessels musculoskeletal system |
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:complication |
poor wound healing
chronic pain easy bruising arterial rupture joint dislocation organ rupture |
| gptkbp:containsGene |
gptkb:DSE
gptkb:COL2A1 gptkb:COL9A3 gptkb:COL4A2 gptkb:COL5A2 gptkb:COL5A3 gptkb:COL6A2 gptkb:COL6A3 gptkb:COL10A1 gptkb:COL11A1 gptkb:COL12A1 gptkb:COL13A1 gptkb:COL14A1 gptkb:COL15A1 gptkb:COL16A1 gptkb:COL1A1 gptkb:COL3A1 gptkb:COL4A1 gptkb:COL5A1 gptkb:COL6A1 gptkb:COL7A1 gptkb:COL8A1 gptkb:COL9A1 gptkb:COL1A2 gptkb:COL18A1 COL11A2 COL4A5 FKBP14 ADAMTS2 COL17A1 COL19A1 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL26A1 COL27A1 COL28A1 COL29A1 COL30A1 COL31A1 COL32A1 COL4A3 COL4A4 COL4A6 AEBP1 B3GALT6 B3GAT3 B4GALT7 C1R C1S CHST14 COL6A4 COL6A5 COL6A6 COL8A2 COL9A2 PLOD1 PPIP5K2 PRDM5 TNXB ZNF469 |
| gptkbp:firstDescribed |
1901
|
| gptkbp:frequency |
rare
|
| gptkbp:hasDiagnosticMethod |
family history
clinical evaluation genetic testing |
| gptkbp:hasType |
gptkb:classical_EDS
gptkb:vascular_EDS arthrochalasia EDS cardiac-valvular EDS classical-like EDS dermatosparaxis EDS hypermobile EDS kyphoscoliotic EDS myopathic EDS periodontal EDS |
| https://www.w3.org/2000/01/rdf-schema#label |
Ehlers-Danlos syndromes
|
| gptkbp:ICD-10_code |
Q79.6
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:namedAfter |
gptkb:Edvard_Ehlers
gptkb:Henri-Alexandre_Danlos |
| gptkbp:OMIM |
130000
|
| gptkbp:prevalence |
1 in 5,000 to 1 in 20,000
|
| gptkbp:symptom |
joint hypermobility
skin hyperextensibility tissue fragility |
| gptkbp:treatment |
physical therapy
pain management surgery (in some cases) |
| gptkbp:bfsParent |
gptkb:vascular_Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
7
|