Tuberous sclerosis complex

URI: https://gptkb.org/entity/Tuberous_sclerosis_complex
GPTKB entity
Statements (47)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:abbreviation TSC
gptkbp:affectsOrgan gptkb:skin
gptkb:kidney
brain
heart
lungs
gptkbp:diagnosedBy gptkb:CT_scan
MRI
genetic testing
clinical criteria
gptkbp:firstDescribed gptkb:Bourneville
1880
gptkbp:guidanceSystem International TSC Consensus Conference
gptkbp:hasOrphanetID 805
gptkbp:hasResearchRegistry TSC Natural History Database
https://www.w3.org/2000/01/rdf-schema#label Tuberous sclerosis complex
gptkbp:ICD-10_code Q85.1
gptkbp:inheritance autosomal dominant
gptkbp:MeSH_ID D014402
gptkbp:mutationAssociatedWith gptkb:TSC1_gene
gptkb:TSC2_gene
gptkbp:namedAfter gptkb:tuberous_sclerosis
gptkbp:OMIM 191100
gptkbp:organization gptkb:Tuberous_Sclerosis_Alliance
Tuberous Sclerosis Association (UK)
gptkbp:prevalence 1 in 6,000 to 1 in 10,000 live births
gptkbp:relatedTo benign tumors
hamartoma formation
gptkbp:riskFactor epilepsy
renal failure
developmental delay
behavioral problems
gptkbp:symptom gptkb:autism_spectrum_disorder
gptkb:lung_lymphangioleiomyomatosis
intellectual disability
seizures
skin lesions
cardiac rhabdomyoma
renal angiomyolipoma
gptkbp:treatment surgery
mTOR inhibitors
antiepileptic drugs
gptkbp:bfsParent gptkb:Ras_homolog_enriched_in_brain
gptkb:Rheb_proteins
gptkb:16p13.13
gptkbp:bfsLayer 7