Tay-Sachs disease

Tay-Sachs disease
болезнь Тея-Сакса
НЗЧ из групп амавротических идиотий amaurotic idiocy и гликозидозов, характеризующееся отсутствием гексозаминидазы А; летально в раннем возрасте (обычно 4-6 месяцев); наследуется по аутосомно-рецессивному типу, ген HEXA локализован на участке q23-q24 хромосомы 15.

Англо-русский толковый словарь генетических терминов. — М.: Изд-во ВНИРО. . 1995.

Смотреть что такое "Tay-Sachs disease" в других словарях:

  • TAY-SACHS DISEASE — (Amaurotic Familial Idiocy). Amaurotic Familial Idiocy, known as the Tay Sachs Disease after W. Tay, an English ophthalmologist who discovered it in 1881, and B. Sachs, a U.S. neurologist who followed in 1887, is a hereditary disease,… …   Encyclopedia of Judaism

  • Tay-Sachs disease — tā saks n a hereditary disorder of lipid metabolism that typically affects individuals of eastern European Jewish ancestry, that is marked by the accumulation of lipids esp. in nervous tissue due to a deficiency of hexosaminidase A, that is… …   Medical dictionary

  • Tay-Sachs disease — /tay saks /, Pathol. a rare fatal hereditary disease, occurring chiefly in infants and children, esp. of eastern European Jewish origin, characterized by a red spot on the retina, gradual blindness, and paralysis. [1920 25; named after W. Tay… …   Universalium

  • Tay-Sachs Disease — Tay Sachs Disease, n. (Med.) A rare hereditary disease affecting lipid metabolism in humans, due to a deficiency of hexosaminidase. It occurs in infants and children, and causes death before the onset of adulthood. It occurs most commonly of… …   The Collaborative International Dictionary of English

  • Tay-Sachs disease — Tay′ Sachs′ disease [[t]ˈteɪˈsæks[/t]] n. pat a degenerative brain disorder caused by lack of or deficiency in an essential enzyme, usu. resulting in mental and physical deterioration and death in early childhood • Etymology: 1905–10; after… …   From formal English to slang

  • Tay-Sachs disease — ☆ Tay Sachs disease [tā′saks′ ] n. [after W. Tay (1843 1927), Eng physician, & B. Sachs (1858 1944), U.S. neurologist, who described it] a hereditary condition, found chiefly among descendants of some Eastern European Jews, caused by an enzyme… …   English World dictionary

  • Tay-Sachs disease — Infobox Disease Name = Tay Sachs disease Caption = DiseasesDB = 12916 ICD10 = ICD10|E|75|0|e|70 ICD9 = ICD9|330.1 ICDO = OMIM = 272800 OMIM mult = OMIM2|272750 MedlinePlus = 001417 eMedicineSubj = ped eMedicineTopic = 3016 MeshID = D013661 Tay… …   Wikipedia

  • Tay-Sachs disease — noun a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood • Syn: ↑Tay Sachs, ↑Sachs disease,… …   Useful english dictionary

  • Tay-Sachs disease — noun Etymology: Warren Tay died 1927 British physician & Bernard P. Sachs died 1944 American neurologist Date: 1907 a hereditary disorder of lipid metabolism typically affecting individuals of eastern European Jewish ancestry that is… …   New Collegiate Dictionary

  • Tay-Sachs disease — amaurotic familial idiocy an inherited disorder of lipid metabolism (see lipidosis) in which abnormal accumulation of lipid in the brain leads to blindness, mental retardation, and death in infancy. The gene responsible for the disorder is… …   The new mediacal dictionary

  • Tay–Sachs disease — [teɪ saks] noun an inherited metabolic disorder in which certain lipids accumulate in the brain, causing spasticity and death in childhood. Origin early 20th cent.: from the names of the English ophthalmologist Warren Tay and the American… …   English new terms dictionary

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