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gptkbp:instanceOf
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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
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epilepsy
renal failure
behavioral problems
pulmonary complications
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gptkbp:diagnosedBy
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genetic testing
clinical criteria
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gptkbp:firstDescribed
|
gptkb:Friedrich_Daniel_von_Recklinghausen
1862
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gptkbp:frequency
|
rare disease
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gptkbp:hasTumorType
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gptkb:lung_lymphangioleiomyomatosis
gptkb:subependymal_giant_cell_astrocytoma
cardiac rhabdomyoma
hamartoma
renal angiomyolipoma
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
tuberous sclerosis
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gptkbp:ICD-10_code
|
Q85.1
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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
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gptkbp:mutationAssociatedWith
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gptkb:TSC1_gene
gptkb:TSC2_gene
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|
gptkbp:OMIM
|
191100
|
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gptkbp:organization
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gptkb:Tuberous_Sclerosis_Alliance
|
|
gptkbp:pathology
|
dysregulation of mTOR pathway
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gptkbp:prevalence
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1 in 6,000 to 1 in 10,000 live births
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gptkbp:riskFactor
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family history of TSC
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gptkbp:symptom
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gptkb:autism_spectrum_disorder
gptkb:lung_lymphangioleiomyomatosis
gptkb:renal_angiomyolipomas
intellectual disability
seizures
skin lesions
cardiac rhabdomyomas
facial angiofibromas
hypomelanotic macules
shagreen patches
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gptkbp:treatment
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mTOR inhibitors
antiepileptic drugs
surgical removal of tumors
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gptkbp:bfsParent
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gptkb:TSC1
gptkb:TSC2
gptkb:renal_cell_carcinoma
gptkb:TSC1/TSC2_complex
gptkb:mTOR
gptkb:pancreatic_neuroendocrine_tumors
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gptkbp:bfsLayer
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6
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