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thiamine-responsive megaloblastic anemia syndrome
Summary
- Synonym
-
- Rogers syndrome
- THMD1
- TRMA
- thiamine metabolism dysfunction syndrome 1
- thiamine-responsive anaemia syndrome
- thiamine-responsive anemia syndrome
- thiamine-responsive megaloblastic anaemia syndrome
- thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
- thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
- thiamine-responsive myelodysplasia
- Definition
- A syndrome 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0090117
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P29401 | Transketolase |
