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Thiamine responsive megaloblastic anemia syndrome MeSH Supplementary Concept Data 2023

MeSH Supplementary
Thiamine responsive megaloblastic anemia syndrome
Unique ID
RDF Unique Identifier
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
Registry Number
Heading Mapped to
*Anemia, Megaloblastic
*Diabetes Mellitus
*Hearing Loss, Sensorineural
Thiamine Deficiency / *congenital
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
Revision Date
Thiamine responsive megaloblastic anemia syndrome Preferred
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