capillary malformation-arteriovenous malformation
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
vascular malformation |
| gptkbp:abbreviation |
CM-AVM
|
| gptkbp:affects |
gptkb:skin
blood vessels |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2003
|
| https://www.w3.org/2000/01/rdf-schema#label |
capillary malformation-arteriovenous malformation
|
| gptkbp:ICD-10_code |
Q27.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:RASA1_gene
EPHB4 gene |
| gptkbp:OMIM |
608354
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Parkes_Weber_syndrome
|
| gptkbp:symptom |
arteriovenous malformations
capillary malformations fast-flow vascular lesions |
| gptkbp:treatment |
embolization
laser therapy surgical resection |
| gptkbp:bfsParent |
gptkb:RasGAP
|
| gptkbp:bfsLayer |
7
|