I-cell disease


I-cell disease
болезнь «I-клеток», муколипидоз II типа
НЗЧ, характеризующееся наличием в клетках соединительной ткани многочисленных включений (inclusion - «I-клетки"), симптомы - задержка роста и т.п.; Б."I-к." обусловлена аутосомной мутацией, ведущей к недостатку фермента N-ацетилглюко-заминфосфотрансферазы (в результате не происходит образования маннозо-6-фосфата), ген GNPTA локализован на участке q21-q23 хромосомы 4.

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

Смотреть что такое "I-cell disease" в других словарях:

  • Sickle-cell disease — This article is about the disease itself. For the genetic transmission of sickle cell disease and its carrier state, see sickle cell trait. Sickle cell disease Classification and external resources Normal and sickle shaped red blood cells ICD 10 …   Wikipedia

  • I-cell disease — Classification and external resources Mannose 6 phosphate (M6P). I cell disease involves a failure to add M6P to proteins. ICD 10 E …   Wikipedia

  • Sickle cell disease — A genetic blood disease due to the presence of an abnormal form of hemoglobin, namely hemoglobin S. Hemoglobin is the molecule in red blood cells that transports oxygen from the lungs to the farthest reaches of the body. Sickle cell disease, also …   Medical dictionary

  • sickle-cell disease — noun a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape • Syn: ↑sickle cell anemia, ↑sickle cell anaemia, ↑crescent cell anemia, ↑crescent cell anaemia, ↑drepanocytic anemia,… …   Useful english dictionary

  • sickle-cell disease — n SICKLE CELL ANEMIA * * * a hereditary blood disease that mainly affects people of African ancestry but also occurs in the Mediterranean region and reaches high frequencies in parts of Saudi Arabia and India. It occurs when the sickle cell gene… …   Medical dictionary

  • sickle cell disease — An inherited disease in which the red blood cells have an abnormal crescent shape, block small blood vessels, and do not last as long as normal red blood cells. Sickle cell disease is caused by a mutation (change) in one of the genes for… …   English dictionary of cancer terms

  • I-cell disease — “I cell” disease. См. муколипидоз II типа. (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.

  • sickle-cell disease — noun A disease characterized by sickle shaped red blood cells. Syn: sickle cell anaemia, sickle cell anaemia, sickle cell anemia …   Wiktionary

  • sickle-cell disease — drepanocytosis a hereditary blood disease that mainly affects people of African ancestry but also occurs in the Mediterranean region and reaches high frequencies in parts of Saudi Arabia and India. It occurs when the sickle cell gene has been… …   The new mediacal dictionary

  • sickle-cell disease — noun see sickle cell anemia …   New Collegiate Dictionary

  • I-cell disease — A human disease in which the lysosomes lack hydrolases but high concentrations of these enzymes are found in the extracellular fluids. The gene defect responsible probably prevents the addition of the lysosome recognition marker (mannose 6… …   Dictionary of molecular biology

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