Klippel–Trénaunay–Weber syndrome

URI: https://gptkb.org/entity/Klippel–Trénaunay–Weber_syndrome
GPTKB entity
Statements (49)
Predicate Object
gptkbp:instanceOf syndrome
rare disease
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
https://www.w3.org/2000/01/rdf-schema#label Klippel–Trénaunay–Weber syndrome
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