|
gptkbp:instanceOf
|
genetic disorder
rare disease
|
|
gptkbp:abbreviation
|
TSC
|
|
gptkbp:affects
|
gptkb:skin
gptkb:nervous_system
heart
lungs
kidneys
eyes
|
|
gptkbp:alsoKnownAs
|
gptkb:Tuberous_sclerosis_complex
|
|
gptkbp:complication
|
gptkb:lymphangioleiomyomatosis
gptkb:subependymal_giant_cell_astrocytoma
epilepsy
autism
learning disabilities
cardiac rhabdomyoma
renal angiomyolipoma
|
|
gptkbp:diagnosedBy
|
gptkb:CT_scan
MRI
genetic testing
clinical criteria
|
|
gptkbp:firstDescribed
|
gptkb:Friedrich_Daniel_von_Recklinghausen
1880
|
|
gptkbp:hasOrphanetID
|
805
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Tuberous sclerosis
|
|
gptkbp:ICD-10_code
|
Q85.1
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:MeSH_ID
|
D014402
|
|
gptkbp:mutationAssociatedWith
|
gptkb:TSC1_gene
gptkb:TSC2_gene
|
|
gptkbp:OMIM
|
191100
|
|
gptkbp:organization
|
gptkb:Tuberous_Sclerosis_Alliance
Tuberous Sclerosis Association
|
|
gptkbp:prevalence
|
1 in 6,000 to 1 in 10,000 live births
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:socialMedia
|
https://www.tsalliance.org/
https://www.tuberous-sclerosis.org/
|
|
gptkbp:symptom
|
gptkb:autism_spectrum_disorder
intellectual disability
seizures
developmental delay
skin lesions
behavioral problems
benign tumors
|
|
gptkbp:treatment
|
behavioral therapy
surgery
mTOR inhibitors
antiepileptic drugs
|
|
gptkbp:bfsParent
|
gptkb:Pancreatic_neuroendocrine_tumor
gptkb:Inherited_Cancer_Syndromes
gptkb:chromosome_16p13.3
gptkb:chromosome_9_(human)
gptkb:PanNETs
|
|
gptkbp:bfsLayer
|
7
|