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General Information
Name
tuberous sclerosis complex
FlyBase ID
FBhh0000198
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of tuberous sclerosis complex (TSC). The human genes implicated in this disease are TSC1, which encodes hamartin, and TSC2, which encodes tuberin. TSC is inherited as an autosomal dominant. See the table below for links to reports describing fly models of TSC.

[updated Mar 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: tuberous sclerosis complex
OMIM report
Symptoms and phenotype
Tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system and results in a combination of symptoms including seizures, developmental delay, behavioral problems, skin abnormalities, and kidney disease. Many TSC patients show evidence of the disorder in the first year of life. However, clinical features can be subtle initially, and many signs and symptoms take years to develop. [from NINDS, NINDS Tuberous Sclerosis Information Page, 2016.3.22].
Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder may be characterized by seizures; mental retardation; distinctive skin lesions; and hamartomas (benign, tumor-like nodules) of the brain, retina, heart, kidneys, lungs, or other tissues or organs. In addition, many affected individuals may have cyst-like areas within certain skeletal regions, particularly the phalanges. Characteristic skin lesions include sharply defined areas of hypopigmentation that may develop during infancy and relatively small reddish nodules that may appear on the cheeks and nose beginning at approximately age four. These reddish lesions eventually enlarge, coalesce, and develop a wart-like appearance (sebaceous adenomas). Additional skin lesions may also develop, including cafe-au-lait spots; fibromas (benign, fibrous nodules) arising around or beneath the nails; or shagreen patches (rough, elevated, "knobby" lesions) on the lower back. [from NORD, Tuberous Sclerosis, 2016.3.17]
Genetics
Tuberous sclerosis complex results from mutations in TSC1 which encoded TSC1 (hamartin) or TSC2 which encodes TSC2 (tuberin). TSC is inherited as an autosomal dominant. Similar clinical features are reported for patients with TSC1 and TSC2 mutations. Most cases represent new gene mutations, not inheritance. TSC has an estimated prevalence of 1 in 6,000 newborns and occurs in all races and ethnic groups and both genders. [from NINDS, NINDS Tuberous Sclerosis Information Page, 2016.3.22].
Cellular phenotype and pathology
Molecular information
TSC1 and TSC2 interact physically with high affinity to form heterodimers.
External links
Disease synonyms
TSC
TS
tuberose sclerosis
tuberous sclerosis
Bourneville Pringle Syndrome
Bourneville disease
Epiloia
Phakomatosis TS
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Synthetic Gene(s) Used (0)
      Summary of Physical Interactions (0 groups)
      Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Selected mammalian transgenes
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila transgenes
      Allele
      Transgene
      Publicly Available Stocks
      RNAi constructs available
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila classical alleles
      Allele
      Allele class
      Mutagen
      Publicly Available Stocks
      References (28)