tuberous sclerosis complex

an autosomal dominant disorder caused by mutation in either of two genes, the TSC1 gene (locus: 9q34), which encodes hamartin, or the TSC2 gene (locus: 16p13), which encodes tuberin; the two proteins are involved in tumor suppression; although hereditary, the majority of cases are due to de novo mutation. The disorder has variable manifestations, primarily neurologic and dermatologic; it is usually evident in childhood, although mild cases may not appear until later. The primary characteristics are hamartomas of the brain (tubers) that can cause seizures and mental retardation; and skin lesions such as periungual fibromas, patches of vitiligo or guttate leukoderma, shagreen patches, and cafй-au-lait spots; there may also be phakomas of the retina and hamartomas of the heart and kidney. Called also tuberous sclerosis.

Medical dictionary. 2011.

Look at other dictionaries:

  • Tuberous sclerosis — Infobox Disease Name = Tuberous sclerosis Caption = Earliest illustration, from Rayer s atlas of skin diseases, 1835. DiseasesDB = 13433 ICD10 = ICD10|Q|85|1|q|80 ICD9 = ICD9|759.5 ICDO = OMIM = 191100 MedlinePlus = 000787 eMedicineSubj = neuro… …   Wikipedia

  • Tuberous sclerosis — A genetic disorder characterized by seizures, skin differences, benign tumors (tubers) that harden as the patient gets older, and developmental delays. Many children with tuberous sclerosis have autistic like symptoms. Diagnosis is by observation …   Medical dictionary

  • Timeline of tuberous sclerosis — The timeline of tuberous sclerosis discovery and research spans less than 200 years. Tuberous sclerosis (TSC) is a rare, multi system genetic disease that causes benign tumours to grow in the brain and on other vital organs such as the kidneys,… …   Wikipedia

  • Carney complex — Classification and external resources Micrograph showing an atrial myxoma, a tumour seen in the Carney complex. H E stain. OMIM …   Wikipedia

  • Bourneville disease — tuberous sclerosis complex …   Medical dictionary

  • Bourneville-Pringle syndrome — tuberous sclerosis complex …   Medical dictionary

  • TSC1 — Tuberous sclerosis protein 1, also known as TSC1or hamartin, is a human protein and gene.cite web | title = Entrez Gene: TSC1 tuberous sclerosis 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=7248|… …   Wikipedia

  • TSC2 — Tuberous sclerosis protein 2, also known as TSC2 and Tuberin, is a human protein and gene. PBB Summary section title = summary text = Mutations in this gene lead to tuberous sclerosis. Its gene product is believed to be a tumor suppressor and is… …   Wikipedia

  • TSC — Tuberous Sclerosis Complex (Medical » Physiology) **** Tractor Supply Company (Business » Firms) **** Time Stamp Counter (Business » General) *** Thermally Stimulated Current (Academic & Science » Electronics) * Stephan Company (Business » AMEX… …   Abbreviations dictionary

  • Manuel Rodríguez Gómez — (1928 07 04 – 2006 01 21) was an American neurologist most noted for his work on tuberous sclerosis, a rare genetic disorder. Contents 1 Life 2 Career 3 Organisations 4 …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.