Thiamine-responsive megaloblastic anemia
WebNM_006996.3(SLC19A2):c.*1928T>C AND Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Clinical significance: Uncertain significance (Last evaluated: Jan 13, 2024) Web6 Oct 2024 · The technical storage or access is strictly necessary for the legitimate purpose of enabling the use of a specific service explicitly requested by the subscriber or user, or for the sole purpose of carrying out the transmission of a communication over an electronic communications network.
Thiamine-responsive megaloblastic anemia
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WebNM_006996.3(SLC19A2):c.42G>T (p.Ala14=) AND Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Clinical significance: Uncertain significance (Last evaluated: Jan 12, 2024) WebThiamine-responsive megaloblastic anemia, also known as "TRMA" or "Rogers syndrome," is an early-onset autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. On the basis of a linkage analysis of affected families of ...
Web1 Mar 2014 · Thiamine responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type 1 diabetes mellitus and sensorineural deafness. Other clinical findings have been... Web8 Feb 2012 · Thiamine-responsive megaloblastic anemia syndrome (TRMA) comprises megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine.
WebDisease Overview. Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. This syndrome is called “thiamine-responsive” because the ... WebThiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence.
WebThiamine-responsive megaloblastic anemia (TRMA), also referred to as Rogers syndrome, is an autosomal recessive disorder characterized by megaloblastic anemia associated with mild thrombocytopenia and leucopenia, diabetes mellitus and sensorineural deafness.
WebNM_006996.3(SLC19A2):c.*1186A>G AND Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Clinical significance: Uncertain significance (Last evaluated: Jan 13, 2024) halsey farm supply mouth of wilson vaWeb8 Oct 2024 · Thiamine-responsive megaloblastic anemia (TRMA, OMIM # 249270) syndrome is a rare autosomal recessive condition characterized by a clinical triad of megaloblastic anemia, diabetes mellitus, and sensory deafness. 1 It is also known as Rogers' syndrome, 1 which Rogers described for the first time in 1969. TRMA syndrome is … burlington nj weather 08016WebThiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. burlington no fly zoneWeb16 Dec 2015 · Other less common causes include the use of metabolic inhibitors such as methotrexate and 6-mercaptopurine and certain rare inborn errors such as thiamine-responsive megaloblastic anemia, [2, 3] Lesch-Nyhan syndrome, and hereditary orotic aciduria (see Etiology). halsey fashion weekWeb16 May 2024 · Thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder characterized by megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus. Onset of megaloblastic anemia occurs between infancy and adolescence. Vitamin B12 and folic acid levels are normal. halsey fashionWebMutations in the SLC19A2 gene that encodes THTR-1 impairs intestinal thiamin uptake and causes thiamin deficiency, leading to thiamin-responsive megaloblastic anemia . This syndrome, which is also called thiamin metabolism dysfunction syndrome-1, is characterized by megaloblastic anemia, diabetes mellitus, and deafness. halsey farm water mill nyWeb11 Sep 2010 · Abstract. Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from … burlington north carolina animal services