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Thiamine responsive megaloblastic anemia syndrome MeSH Supplementary Concept Data 2022


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
Registry Number
0
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 Preferred
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