Barth syndrome

Barth syndrome
an X-linked disorder caused by mutation in the TAZ gene (locus: q28), which encodes a protein of unknown function that is highly expressed in cardiac and skeletal muscle, characterized by dilated cardiomyopathy, hypotonia, neutropenia, and growth retardation, with moderately increased urinary excretion of 3-methylglutaconic and 3-methylglutaric acids. Called also 3-methylglutaconicaciduria type II.

Medical dictionary. 2011.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • Barth syndrome — Barth syndrome. См. синдром Барта. (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.

  • Barth syndrome — Infobox Disease Name = Barth syndrome Caption = DiseasesDB = 29297 ICD10 = ICD9 = ICD9|759.89 ICDO = OMIM = 302060 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Barth syndrome (BTHS), also known as 3 Methylglutaconic aciduria type II… …   Wikipedia

  • Barth — [bart] (english beard ) can mean:People*Edgar Barth (1917 1965), a German race car driver *Fredrik Barth (1928 ), a Norwegian anthropologist *Heinrich Barth (1821 1865), a German explorer *Heinz Barth (1920 2007), Waffen SS leader *John Barth… …   Wikipedia

  • Syndrome de Barth — Le syndrome de Barth est une grave maladie génétique liée à l X qui touche essentiellement les garçons. Ce syndrome doit son nom à son découvreur, le pathologiste français Jean Baptiste Barth (1806 1877). Sommaire 1 Les symptômes 1.1 La… …   Wikipédia en Français

  • Syndrome post-commotionnel — Classification et ressources externes CIM 10 F07.2 CIM 9 310.2 eMedicine …   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

  • Síndrome de Barth — Clasificación y recursos externos CIE 9 759.89 OMIM 302060 …   Wikipedia Español

  • Androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E …   Wikipedia

  • Fragile X syndrome — Classification and external resources Location of FMR1 gene ICD 10 Q99.2 …   Wikipedia

  • Rett syndrome — Classification and external resources ICD 10 F84.2 ICD 9 330.8 …   Wikipedia

Share the article and excerpts

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