Klippel–Trénaunay–Weber syndrome

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:syndrome gptkb:rare_disease gptkb:vascular_malformation
gptkbp:affects	gptkb:skin bones lymphatic system soft tissue veins
gptkbp:alsoKnownAs	gptkb:KTWS gptkb:Klippel–Trénaunay_syndrome
gptkbp:associatedWith	gptkb:PIK3CA
gptkbp:complication	bleeding infection pulmonary embolism chronic pain deep vein thrombosis
gptkbp:diagnosedBy	clinical examination imaging studies
gptkbp:differentialDiagnosis	gptkb:Parkes_Weber_syndrome gptkb:Sturge-Weber_syndrome gptkb:Proteus_syndrome
gptkbp:firstDescribed	gptkb:Maurice_Klippel gptkb:Paul_Trénaunay gptkb:Frederick_Parkes_Weber 1900
gptkbp:frequency	1 in 100,000 live births
gptkbp:hasNoCure	true
gptkbp:hasOrphanetID	ORPHA:2512
gptkbp:ICD-10_code	Q87.2
gptkbp:inheritance	sporadic
gptkbp:MeSH_ID	D020755
gptkbp:namedAfter	gptkb:Maurice_Klippel gptkb:Paul_Trénaunay gptkb:Frederick_Parkes_Weber
gptkbp:OMIM	149000
gptkbp:prevalence	rare
gptkbp:symptom	lymphatic malformations bone hypertrophy limb overgrowth port-wine stain soft tissue hypertrophy varicose veins
gptkbp:treatment	surgery laser therapy compression therapy sclerotherapy
gptkbp:bfsParent	gptkb:Frederick_Parkes_Weber
gptkbp:bfsLayer	6
https://www.w3.org/2000/01/rdf-schema#label	Klippel–Trénaunay–Weber syndrome