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Tuberous sclerosis

Tuberous sclerosis complex (TSC) is a rare, multi-system genetic disorder that causes the growth of benign tumors in various organs, including the brain, kidneys, heart, liver, eyes, lungs, and skin. Symptoms may include seizures, intellectual disability, and developmental delay.

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Frequency
7 to 12 per 100,000
Other names
Tuberous sclerosis complex (TSC), Bourneville disease, Bourneville-Pringle disease
Prognosis
Normal life expectancy
Specialty
Neurology, medical genetics

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Overview

Signs and symptoms

Genetics

Pathophysiology

Diagnosis

Management

Prognosis

Epidemiology

History

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Map overview Semantic statistics

Tuberous sclerosis

Nodes145
Edges144
Triples48
Avg. degree1.99
Density0.013793
Components1

How this topic connects Entity context

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Tuberous sclerosis

Top relations

related to Diagnosis · 12
Tuberous sclerosis → An, Between, For, However, If, Once, There, Therefore, TSC, TSC1, TSC2, Tuberous
related to history · 11
Tuberous sclerosis → Bourneville, Bourneville's, CT, Gomez, However, MRI, Recklinghausen, Symptoms, The, TSC, Vogt
related to Management · 5
Tuberous sclerosis → Consensus Conference, In, International Tuberous Sclerosis Complex, TSC, Tuberous
related to External links · 2
Tuberous sclerosis → NIH/UW GeneTestsGeneReview/NCBI/NIH/UW, Tuberous Sclerosis Complex
Frequency · 1
Tuberous sclerosis → 7 to 12 per 100,000
Other names · 1
Tuberous sclerosis → Tuberous sclerosis complex (TSC), Bourneville disease, Bourneville-Pringle disease
Prognosis · 1
Tuberous sclerosis → Normal life expectancy
Specialty · 1
Tuberous sclerosis → Neurology, medical genetics

Important terminology Word statistics

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Important terminology

tsc may tsc2 symptoms disease individuals people tsc1 citation needed genetic include intellectual seizures one cell subependymal skin mutation associated

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
Tuberous sclerosisFrequency7 to 12 per 100,0001.00infobox
Tuberous sclerosisOther namesTuberous sclerosis complex (TSC), Bourneville disease, Bourneville-Pringle disease1.00infobox
Tuberous sclerosisPrognosisNormal life expectancy1.00infobox
Tuberous sclerosisSpecialtyNeurology, medical genetics1.00infobox
the cortical tubersinstance ofmalformed tissue0.80text
seizuresinstance ofThe effect of these on the brain leads to neurological symptoms0.80text
intellectual disabilityinstance ofThe effect of these on the brain leads to neurological symptoms0.80text
developmental delayinstance ofThe effect of these on the brain leads to neurological symptoms0.80text
and behavioral problemsinstance ofThe effect of these on the brain leads to neurological symptoms0.80text
radial white matter tracts hyperintense on T2WIinstance ofTSC patients can exhibit other signs consistent with abnormal neuron migration0.80text
heterotopic grey matterinstance ofTSC patients can exhibit other signs consistent with abnormal neuron migration0.80text
dyscalculiainstance ofThese are often specific learning disorders0.80text

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