Hirschsprung&’s disease


Hirschsprung&’s disease
(= HSCR)
See Waardenburg&’s syndrome. Aganglionic megacolon - a congenital malformation caused by absence of ganglion cells in myenteric and submucosal neural plexuses of gut. In some cases defect is due to mutation in RET receptor tyrosine kinase, in others to mutations in endothelin-3, endothelin-beta receptor, GDGF. When associated with Waardenburg&’s syndrome, the defect is due to mutation in Sox10.

Dictionary of molecular biology. 2004.

Look at other dictionaries:

  • Hirschsprung's disease — Classification and external resources Histopathology of Hirschsprung disease. Enzyme histochemistry showing aberrant acetylcholine esterase (ACHE) positive fibres (brown) in the lamina propria mucosae …   Wikipedia

  • Hirschsprung's disease — Hirsch·sprung s disease hirsh .pru̇ŋz n megacolon that is caused by congenital absence of ganglion cells in the muscular wall of the distal part of the colon with resulting loss of peristaltic function in this part and dilatation of the colon… …   Medical dictionary

  • Hirschsprung's disease — noun congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon • Syn: ↑congenital megacolon • Hypernyms: ↑genetic disease, ↑genetic disorder,… …   Useful english dictionary

  • Hirschsprung's disease — a congenital condition in which the rectum and sometimes part of the lower colon have failed to develop a normal nerve network. The affected portion does not expand or conduct the contents of the bowel, which accumulate in and distend the upper… …   The new mediacal dictionary

  • Hirschsprung's disease — noun Congenital aganglionic megacolon, a disorder in which the bowel is obstructed by an aganglionic section of bowel and the colon becomes enlarged …   Wiktionary

  • Hirschsprung’s disease — congenital colonic dilatation …   Eponyms, nicknames, and geographical games

  • Болезнь Гиршпрунга (Hirschsprung'S Disease) — врожденный порок развития прямой кишки, а иногда и дистального отдела ободочной кишки вследствие денервации всех элементов кишечной стенки и сосудов. При этом нарушается прохождение кишечного содержимого через пораженные участки, что приводит к… …   Медицинские термины

  • Hirschsprung — may refer to: *Hirschsprung s disease *Pinchas Hirschsprung, a rabbi …   Wikipedia

  • Hirschsprung disease — Hirschsprung disease. См. болезнь Хиршспрунга. (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.

  • Disease, Hirschsprung — A congenital abnormality (birth defect) of the bowel in which there is absence of the ganglia (nerves) in the wall of the bowel. Nerves are missing starting at the anus and extending a variable distance up the bowel. This results in megacolon… …   Medical dictionary


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