tuberous sclerosis

tuberous sclerosis
Autosomal dominant disorder caused by mutation in tumour suppressor genes TSC1 or TSC2. Disease characterized by range of features including seizures, mental retardation, renal dysfunction and dermatological abnormalities. TSC1 encodes hamartin, TSC2 encodes tuberin which has rap- and rab-GAPactivity.

Dictionary of molecular biology. 2004.

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  • tuberous sclerosis — tuberous sclerosis. См. эпилойя. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • 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

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  • tuberous sclerosis — Bourneville s disease; = epiloia a hereditary disorder in which the brain, skin, and other organs are studded with small plaques or tumours; eye involvement includes retinal tumours, optic nerve gliomas, and eyelid neuromas. Symptoms include… …   The new mediacal dictionary

  • tuberous sclerosis — A genetic disorder in which benign (noncancerous) tumors form in the kidneys, brain, eyes, heart, lungs, and skin. This disease can cause seizures, mental disabilities, and different types of skin lesions …   English dictionary of cancer terms

  • tuberous sclerosis — noun : epiloia …   Useful english 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

  • Sclerosis — or sclerotization is a hardening of tissue and other anatomical featuresIn medicine*Amyotrophic lateral sclerosis sometimes known as Lou Gehrig s disease, a progressive, incurable, usually fatal disease of motor neurons. Scientist Stephen Hawking …   Wikipedia

  • sclerosis — 1. SYN: induration (2). 2. In neuropathy, induration of nervous and other structures by a hyperplasia of the interstitial fibrous or glial connective tissue. [G. sklerosis, hardness] Alzheimer s …   Medical dictionary

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