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gptkbp:instanceOf
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gptkb:genetic_disorder
|
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gptkbp:abbreviation
|
TSC
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gptkbp:affects
|
gptkb:skin
gptkb:nervous_system
heart
lungs
kidneys
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gptkbp:alsoKnownAs
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gptkb:tuberous_sclerosis_complex
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gptkbp:complication
|
epilepsy
renal failure
behavioral problems
pulmonary complications
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gptkbp:diagnosedBy
|
genetic testing
clinical criteria
|
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gptkbp:firstDescribed
|
gptkb:Friedrich_Daniel_von_Recklinghausen
1862
|
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gptkbp:frequency
|
gptkb:rare_disease
|
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gptkbp:hasTumorType
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gptkb:lung_lymphangioleiomyomatosis
gptkb:hamartoma
gptkb:subependymal_giant_cell_astrocytoma
cardiac rhabdomyoma
renal angiomyolipoma
|
|
gptkbp:ICD-10_code
|
Q85.1
|
|
gptkbp:inheritance
|
autosomal dominant
|
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gptkbp:locatedOnChromosome
|
TSC1 on chromosome 9q34
TSC2 on chromosome 16p13.3
|
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gptkbp:MeSH_ID
|
D014402
|
|
gptkbp:mutationAssociatedWith
|
gptkb:TSC1_gene
gptkb:TSC2_gene
|
|
gptkbp:OMIM
|
191100
|
|
gptkbp:organization
|
gptkb:Tuberous_Sclerosis_Alliance
|
|
gptkbp:pathology
|
dysregulation of mTOR pathway
|
|
gptkbp:prevalence
|
1 in 6,000 to 1 in 10,000 live births
|
|
gptkbp:riskFactor
|
family history of TSC
|
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gptkbp:symptom
|
gptkb:intellectual_disability
gptkb:autism_spectrum_disorder
gptkb:lung_lymphangioleiomyomatosis
gptkb:renal_angiomyolipomas
seizures
skin lesions
cardiac rhabdomyomas
facial angiofibromas
hypomelanotic macules
shagreen patches
|
|
gptkbp:treatment
|
mTOR inhibitors
antiepileptic drugs
surgical removal of tumors
|
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gptkbp:bfsParent
|
gptkb:TSC1/TSC2_complex
gptkb:mTOR
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gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
tuberous sclerosis
|