|
gptkbp:instanceOf
|
genetic disorder
syndrome
|
|
gptkbp:affects
|
gptkb:skeletal_muscle
|
|
gptkbp:differentialDiagnosis
|
gptkb:Marfan_syndrome
Ehlers-Danlos syndrome
|
|
gptkbp:field
|
cardiology
medical genetics
vascular medicine
|
|
gptkbp:firstDescribed
|
gptkb:Bart_L._Loeys
gptkb:Harry_C._Dietz
2005
|
|
gptkbp:frequency
|
rare
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Loeys-Dietz syndrome
|
|
gptkbp:ICD-10_code
|
Q87.4
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:mutationAssociatedWith
|
gptkb:SMAD3_gene
gptkb:TGFB2_gene
gptkb:TGFB3_gene
gptkb:TGFBR1_gene
gptkb:TGFBR2_gene
|
|
gptkbp:namedAfter
|
gptkb:Bart_L._Loeys
gptkb:Harry_C._Dietz
|
|
gptkbp:OMIM
|
609192
|
|
gptkbp:riskFactor
|
aortic dissection
arterial rupture
|
|
gptkbp:subspecies
|
gptkb:Loeys-Dietz_syndrome_type_1
gptkb:Loeys-Dietz_syndrome_type_2
gptkb:Loeys-Dietz_syndrome_type_3
gptkb:Loeys-Dietz_syndrome_type_4
gptkb:Loeys-Dietz_syndrome_type_5
|
|
gptkbp:symptom
|
skeletal abnormalities
hypertelorism
cleft palate
arterial aneurysms
arterial tortuosity
bifid uvula
|
|
gptkbp:treatment
|
gptkb:angiotensin_receptor_blockers
beta blockers
surgical repair of aneurysms
|
|
gptkbp:bfsParent
|
gptkb:Ehlers-Danlos_syndrome
|
|
gptkbp:bfsLayer
|
6
|