leprechaunism

leprechaunism
A congenital form of dwarfism characterized by extreme growth retardation, endocrine disorders, and emaciation, with elfin facies and large, low-set ears; autosomal recessive inheritance; caused by mutation in the insulin receptor gene (INSR) on 19p. SYN: Donohue disease, Donohue syndrome. [Irish leprechaun, elf]

* * *

lep·re·chaun·ism 'lep-rə-.kän-.iz-əm, -.kȯn- n a rare inherited disorder characterized by mental and physical retardation, by endocrine disorders, by hirsutism, and esp. by a facies marked by large wide-set eyes and large low-set ears

* * *

lep·re·chaun·ism (lepґrə-kon″iz-əm) Donohue syndrome.

Medical dictionary. 2011.

Игры ⚽ Поможем написать реферат

Look at other dictionaries:

  • leprechaunism — leprechaunism. 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.

  • leprechaunism — leprechaunism. = Donohue syndrome (см.). (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 — Classification and external resources insulin receptor OMIM 246200 …   Wikipedia

  • Patterson syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 169170 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken… …   Wikipedia

  • List of diseases (L) — A list of diseases in the English wikipedia.DiseasesTOC LaLab Lam* Labrador lung * Labyrinthitis * Lachiewicz Sibley syndrome * Lacrimo auriculo dento digital syndrome * Lactate dehydrogenase deficiency type A * Lactate dehydrogenase deficiency… …   Wikipedia

  • Insulin receptor — In molecular biology, the insulin receptor is a transmembrane receptor that is activated by insulin. It belongs to the large class of tyrosine kinase receptors.Two alpha subunits and two beta subunits make up the insulin receptor. The beta… …   Wikipedia

  • List of causes of hypoglycemia — This is a list of causes of hypoglycemia. Despite its length, it is not necessarily exhaustive, as new causes are reported regularly in the medical literature. In many individual instances of hypoglycemia, more than one contributing factor may be …   Wikipedia

  • Rabson-Mendenhall syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 262190 MedlinePlus = MeshName = MeshNumber = Rabson Mendenhall syndrome is a rare insulin receptor disordercite journal |author=Kasuga M, Kadowaki T… …   Wikipedia

  • Leprechaun (disambiguation) — A Leprechaun, in Irish mythology, is a type of male faerie said to inhabit the island of Ireland.Leprechaun may also refer to:In mythology: * Menninkäinen, in Finnish mythology, an equivalent to the leprechaun * Jures, in German mythology, an… …   Wikipedia

  • Elfin facies — is a form of facies where the patient presents with facial characteristics bearing some similarities to those traditionally associated with elves. Because of imprecision inherent in such as definition, as well as the potential for offense, it is… …   Wikipedia

Share the article and excerpts

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