|
gptkbp:instanceOf
|
genetic disorder
|
|
gptkbp:affects
|
musculoskeletal system
auditory system
ocular system
craniofacial system
|
|
gptkbp:alsoKnownAs
|
gptkb:hereditary_progressive_arthro-ophthalmopathy
|
|
gptkbp:diagnosedBy
|
clinical evaluation
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:Gunnar_B._Stickler
1965
|
|
gptkbp:hasOrphanetID
|
ORPHA:861
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Stickler syndrome
|
|
gptkbp:ICD-10_code
|
Q87.8
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:mutationAssociatedWith
|
gptkb:COL9A1_gene
gptkb:COL9A2_gene
gptkb:COL9A3_gene
gptkb:COL2A1_gene
gptkb:COL11A1_gene
gptkb:COL11A2_gene
|
|
gptkbp:namedAfter
|
gptkb:Gunnar_B._Stickler
|
|
gptkbp:notableFeature
|
genetic heterogeneity
variable expressivity
|
|
gptkbp:OMIM
|
108300
|
|
gptkbp:parent
|
connective tissue disorder
|
|
gptkbp:prevalence
|
1 in 7,500 to 9,000 newborns
|
|
gptkbp:riskFactor
|
hearing impairment
early-onset osteoarthritis
retinal detachment
|
|
gptkbp:subspecies
|
gptkb:Type_III_Stickler_syndrome
gptkb:Type_II_Stickler_syndrome
gptkb:Type_IV_Stickler_syndrome
gptkb:Type_I_Stickler_syndrome
gptkb:Type_V_Stickler_syndrome
|
|
gptkbp:symptom
|
gptkb:cataracts
arthritis
hearing loss
glaucoma
myopia
cleft palate
joint hypermobility
retinal detachment
midface hypoplasia
|
|
gptkbp:treatment
|
joint replacement
hearing aids
glasses
symptomatic management
surgical intervention for cleft palate
|
|
gptkbp:bfsParent
|
gptkb:Ehlers-Danlos_syndrome
|
|
gptkbp:bfsLayer
|
6
|