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Thiopurine S-methyltransferase deficiency
rareAn inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.
- Identifiers
- MONDO:0012503 OMIM:610460Orphanet:3315
- Causal genes
- TPMT
- Part of
- Thiopurine metabolic disease
- Also known as
- 6-mercaptopurine sensitivity · inborn error of thiopurine S-methyltransferase activity · inborn thiopurine S-methyltransferase activity disorder · poor metabolism of thiopurines-1 · rare inborn error of thiopurine S-methyltransferase activity
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