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thiamine-responsive megaloblastic anemia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
Uniprot Description An autosomal recessive disease 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.
Disease Ontology Description An autosomal recessive disease characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine that has_material_basis_in homozygous mutation in the SLC19A2 gene on chromosome 1q24.
Mondo Term and Equivalent IDs
MONDO:0009575:  thiamine-responsive megaloblastic anemia syndrome
GARD:0009210: 
MESH:C536510: 
Orphanet:49827: 
SCTID:237617006: