mannosidosis


mannosidosis
Congenital deficiency of α-mannosidase; associated with coarse facial features, enlarged tongue, mental retardation, kyphosis, radiographic skeletal abnormalities, and vacuolated lymphocytes, with accumulation of mannose in tissues; autosomal recessive inheritance, caused by mutation in the alpha-mannosidase gene (MANB) on chromosome 19p.

* * *

man·nos·i·do·sis mə-.nō-sə-'dō-səs n, pl -do·ses -.sēz a rare inherited metabolic disease characterized by deficiency of an enzyme catalyzing the metabolism of mannose with resulting accumulation of mannose in the body and marked esp. by facial and skeletal deformities and by mental retardation

Medical dictionary. 2011.

Look at other dictionaries:

  • Mannosidosis — is a deficiency in mannosidase, an enzyme.[1] There are two types: Alpha mannosidosis Beta mannosidosis See also Swainsonine References ^ MeSH Mannosidosis …   Wikipedia

  • mannosidosis — mannosidosis. = Ockerman 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.

  • mannosidosis — mannosidosis. См. синдром Окермана. (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.

  • mannosidosis — noun A deficiency in mannosidase …   Wiktionary

  • Alpha-mannosidosis — Infobox Disease Name = Alpha mannosidosis Caption = DiseasesDB = 31422 ICD10 = ICD10|E|77|1|e|70 ICD9 = ICD9|271 ICDO = OMIM = 248500 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D008363 Alpha mannosidosis is an autosomal recessivecite …   Wikipedia

  • Beta-mannosidosis — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 34529 ICD10 = ICD9 = ICDO = OMIM = 248510 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D044905 Beta mannosidosis, also called lysosomal beta mannosidase deficiency, [OMIM|248510]… …   Wikipedia

  • α-mannosidosis — α man·no·si·do·sis (man″o sĭ doґsis) an autosomal recessive lysosomal storage disease caused by mutation in the MAN2B1 gene (locus: 19cen q12), which encodes lysosomal α mannosidase; the resulting enzyme defect leads to… …   Medical dictionary

  • β-mannosidosis — β man·no·si·do·sis (man″o sĭ doґsis) an autosomal recessive lysosomal storage disease caused by mutation in the MANBA gene (locus: 4q22 q25), which encodes β mannosidase; the resulting enzyme defect leads to oligosaccharide… …   Medical dictionary

  • α-Mannosidose — Klassifikation nach ICD 10 E77.1 Defekte beim Glykoproteinabbau Mannosidose …   Deutsch Wikipedia

  • β-Mannosidose — Klassifikation nach ICD 10 E77.1 Defekte beim Glykoproteinabbau Mannosidose …   Deutsch Wikipedia