Ehlers-Danlos syndrome, kyphoscoliotic type 1
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
collagen biosynthesis
|
| gptkbp:alsoKnownAs |
EDS type VIA
|
| gptkbp:characterizedBy |
joint hypermobility
skin hyperextensibility muscle hypotonia progressive kyphoscoliosis fragile blood vessels |
| gptkbp:diagnosedBy |
molecular genetic testing
|
| gptkbp:firstDescribed |
1975
|
| gptkbp:ICD-10_code |
Q79.6
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:PLOD1_gene
|
| gptkbp:OMIM |
225400
|
| gptkbp:prevalence |
rare
|
| gptkbp:treatment |
supportive care
physical therapy orthopedic interventions |
| http://www.w3.org/2000/01/rdf-schema#label |
Ehlers-Danlos syndrome, kyphoscoliotic type 1
|