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IEMbase 0095: SLC19A2-related thiamine transporter 1 deficiency

Scope

Field Value
IEMbase ID 95
Nosology 21.2.01.01
Gene SLC19A2
External IDs OMIM:603941
Generated mapping UNMAPPED
Candidate DisMech targets No exact local target
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents this as autosomal recessive SLC19A2-related thiamine transporter 1 deficiency, with alternate labels thiamine-responsive megaloblastic anemia syndrome, Rogers syndrome, and THTR1.

Treatability is marked unknown, but thiamine is listed as a treatment row.

The characteristic biochemical rows are plasma glucose, plasma lactate, and plasma vitamin B1/thiamine.

The characteristic clinical rows are sideroblastic anemia, deafness, insulin-dependent diabetes mellitus, and thrombocytopenia.

DisMech phenotype coverage

There is no exact DisMech disease entry for thiamine-responsive megaloblastic anemia/Rogers syndrome.

Diabetes_Mellitus.yaml mentions SLC19A2 as a monogenic diabetes gene and notes its relationship to thiamine-responsive megaloblastic anemia syndrome, but that is not a disease-level TRMA entry and does not cover the hematologic and hearing-loss syndrome as a mechanistic disease model.

Biotin_Thiamine_Responsive_Basal_Ganglia_Disease.yaml is not a valid target: it is SLC19A3/thiamine transporter 2 disease, not SLC19A2/THTR1 disease.

Concordance and completeness

Judgement: no valid local target, with narrow secondary context in the broad diabetes entry.

The missing local disease would likely be a high-value treatable inborn error entry because IEMbase records thiamine treatment and the classic triad of diabetes, deafness, and megaloblastic/sideroblastic anemia.

Curation actions

  • Do not map this record to SLC19A3-related Biotin_Thiamine_Responsive_Basal_Ganglia_Disease.yaml.
  • Consider a standalone SLC19A2/TRMA/Rogers syndrome entry.
  • Resolve the IEMbase treatability inconsistency during curation: treatment is listed as thiamine even though treatability is marked unknown.