| H00964 | |
| H number | H00964 |
| Name | Thiopurine S-methyltransferase deficiency (TPMT deficiency) |
| Description | Thiopurine S-methyltransferase deficiency (TPMT deficiency) is inherited severe intolerance to thiopurine toxicity, caused by mutation in the TPMT gene. TPMT is part of a cascade of enzymes responsible for the metabolism of thiopurine drugs including azathioprine, mercaptopurine, and thioguanine. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | TPMT [HSA:7172] [KO:K00569] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C55.0Y ICD-10: E79.8 MeSH: C536512 OMIM: 610460 |
| Reference | PMID:20354201 AUTHORS Ford LT, Berg JD TITLE Thiopurine S-methyltransferase (TPMT) assessment prior to starting thiopurine drug treatment; a pharmacogenomic test whose time has come. JOURNAL J Clin Pathol 63:288-95 (2010) DOI:10.1136/jcp.2009.069252 |