MeSH Browser

MeSH Supplementary: Thiamine responsive megaloblastic anemia syndrome
Unique ID: C536510
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536510
Entry Term(s): Abboud syndrome; Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness; Rogers syndrome; Thiamine responsive myelodysplasia; Thiamine-Responsive Anemia Syndrome; Thiamine-Responsive Megaloblastic Anemia Syndrome; Thiamine-Responsive Myelodysplasia
Heading Mapped to: *Anemia, Megaloblastic; *Diabetes Mellitus; *Hearing Loss, Sensorineural; Thiamine Deficiency / congenital
Frequency: 43
Note: A hereditary autosomal recessive disorder characterized by 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. Other more variable features include OPTIC ATROPHY; CONGENITAL HEART DEFECTS, short stature, and STROKE. Mutations in the SLC19A2 gene have been identified. OMIM: 249270
Date of Entry: 2010/08/25
Revision Date: 2016/07/07

Thiamine responsive megaloblastic anemia syndrome MeSH Supplementary Concept Data 2024