capillary malformation-arteriovenous malformation (CM-AVM)
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
vascular malformation |
| gptkbp:affects |
circulatory system
|
| gptkbp:cause |
bleeding
neurological symptoms cosmetic concerns |
| gptkbp:firstDescribed |
2003
|
| gptkbp:hasGeneticCause |
RASA1 gene mutation
EPHB4 gene mutation |
| https://www.w3.org/2000/01/rdf-schema#label |
capillary malformation-arteriovenous malformation (CM-AVM)
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
608354
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
arteriovenous malformations
capillary malformations fast-flow vascular lesions |
| gptkbp:synonym |
CM-AVM syndrome
RASA1-related capillary malformation |
| gptkbp:treatment |
embolization
laser therapy surgical resection |
| gptkbp:bfsParent |
gptkb:RASA1_gene
|
| gptkbp:bfsLayer |
7
|