tuberous sclerosis complex

GPTKB entity

Predicate	Object
gptkbp:instanceOf	genetic disorder
gptkbp:affectsOrgan	gptkb:skin brain heart lungs kidneys eyes
gptkbp:alsoKnownAs	TSC
gptkbp:characterizedBy	benign tumors in multiple organs
gptkbp:complication	epilepsy renal failure intellectual disability lung disease (LAM)
gptkbp:diagnosedBy	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 complex
gptkbp:ICD-10_code	Q85.1
gptkbp:inheritance	autosomal dominant
gptkbp:managedBy	multidisciplinary team
gptkbp:MeSH_ID	D014402
gptkbp:mutationAssociatedWith	gptkb:TSC1_gene gptkb:TSC2_gene
gptkbp:OMIM	191100
gptkbp:organization	gptkb:Tuberous_Sclerosis_Alliance
gptkbp:prevalence	1 in 6,000 to 1 in 10,000 live births
gptkbp:riskFactor	family history of TSC
gptkbp:socialMedia	https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex https://www.tsalliance.org/
gptkbp:symptom	gptkb:autism_spectrum_disorder gptkb:renal_angiomyolipomas seizures developmental delay skin lesions cardiac rhabdomyomas
gptkbp:treatment	mTOR inhibitors antiepileptic drugs surgical removal of tumors
gptkbp:bfsParent	gptkb:Afinitor
gptkbp:bfsLayer	5