Donohue syndrome

Donohue syndrome
a rare, lethal, autosomal recessive condition caused by mutation in the INSR gene (locus: 19p13.2), which encodes the insulin receptor, characterized by slow physical and mental development, elfin facies, and endocrine abnormalities such as hyperinsulinemia and precocious puberty. Death usually occurs in utero or in the first year of life. Called also leprechaunism.

Medical dictionary. 2011.

Игры ⚽ Поможем написать реферат

Look at other dictionaries:

  • Donohue syndrome — Classification and external resources insulin receptor OMIM 246200 …   Wikipedia

  • Donohue syndrome — Donohue syndrome. См. лепречаунизм. (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.

  • Donohue syndrome — Don·o·hue syndrome (donґə hu) [William Leslie Donohue, Canadian physician, 20th century] see under syndrome …   Medical dictionary

  • Donohue — is an originally an Irish surname which is abbreviated from O Donohue. (Irish: Ó Donnachú). It may refer to: Adam Donohue (born 1990), Australian rules footballer David Donohue (born 1967), American race car driver Erin Donohue (born 1983),… …   Wikipedia

  • Donohue — Cette page d’homonymie répertorie les différents sujets et articles partageant un même nom. Donohue peut désigner : Patronyme Harold Donohue (1901 1984), représentant du Massachusetts au Congrès Jack Donohue (1908 1984), réalisateur,… …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Robinow syndrome — Classification and external resources An infant exhibiting the facial features of Robinow syndrome. ICD 10 Q …   Wikipedia

  • Marfan syndrome — Marfan redirects here. For the person after whom the syndrome is named, see Antoine Marfan. Marfan syndrome Classification and external resources Micrograph demonstrating myxomatous degeneration of the aorti …   Wikipedia

  • Noonan syndrome — Classification and external resources A 12 year old female with Noonan syndrome. Typical webbed neck. Double structural curve with rib deformity. ICD 10 Q …   Wikipedia

  • Bardet–Biedl syndrome — Laurence Moon Biedl syndrome and Laurence Moon Biedl Bardet redirect here. See below for an explanation. Bardet–Biedl syndrome Classification and external resources ICD 10 Q87.8 ICD 9 …   Wikipedia

Share the article and excerpts

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