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Metadata
ID DOID:0090117
Name thiamine-responsive megaloblastic anemia syndrome
Definition An autosomal recessive disease that is 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, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24.
https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndrome, https://www.ncbi.nlm.nih.gov/books/NBK1282/, https://www.omim.org/entry/249270
Xrefs

GARD:9210

MESH:C536510

OMIM:249270

ORDO:498277

UMLS_CUI:C0342287

Synonyms

Rogers syndrome [EXACT]

thiamine metabolism dysfunction syndrome 1 [EXACT]

thiamine-responsive anemia syndrome [EXACT]

thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness [EXACT]

thiamine-responsive myelodysplasia [EXACT]

THMD1 [EXACT]

TRMA [EXACT]

Parent Relationships

is_a autosomal recessive disease

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