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Tuberous Sclerosis Complex

Congenital Malformations and Chromosomal Abnormalities

Tuberous sclerosis complex is a genetic disorder caused by mutations in either the TSC1 or TSC2 gene, which normally help restrain cell growth, and whose loss allows benign tumors to form in many organs including the brain, skin, kidneys, heart and lungs. It commonly causes seizures, developmental delay and distinctive skin findings such as facial angiofibromas, though the severity of symptoms varies enormously between affected individuals, even within the same family. French physician Desire-Magloire Bourneville first described the brain lesions characteristic of the disorder in 1880, and the disease was known by his name for many years afterward.

Facts
Classification
Body SystemSourced to the subject's own account
Nervous System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission RouteSourced to the subject's own account
Non-Transmissible 1
Causative Agent
Causative Agent (category)Sourced to the subject's own account
Genetic / Hereditary 1
First DescribedSourced to the subject's own account
1880 1
Sources
1. Tuberous Sclerosis Complex (Wikipedia)
Wikipedia
  • lead paragraph
    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.
  • Wikipedia infobox, field/specialty parameter
    neurology, medical genetics
  • Lead section, transmission-route statement
    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.
View the Source
2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
View the Source
3. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases section
Quote, Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
View the Source
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