Thiopurines, Poor Metabolism Of, 2; Thpm2

Description

THPM2 is associated with severe hematopoietic toxicity when patients are treated with standard doses of thiopurines, a class of antineoplastic/immunosuppressant agents that consists of mercaptopurine, thioguanine, and azathioprine. Thiopurines are prodrugs that require extensive metabolism in order to exert their cytotoxic action. Thiopurines are converted into cytotoxic thioguanine nucleotides (TG), which are incorporated into DNA and cause cell death. NUDT15 inactivates thiopurine metabolites and negatively regulates cytotoxicity (summary by Moriyama et al., 2016). The NUDT15 deficiency trait follows an additive genetic mode of inheritance, with the severity of the phenotype proportional to the cumulative number of risk alleles in NUDT15.For a discussion of genetic heterogeneity of poor thiopurine metabolism, see THPM1 (OMIM ).

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Thiopurines, Poor Metabolism Of, 2; Thpm2 Is also known as nudt15 deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Thiopurines, Poor Metabolism Of, 2; Thpm2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NUDT15.

By Fulgent Genetics Fulgent Genetics (United States).

NUDT15
Specificity
100 %
Genes
100 %
Medication Response Genetic Test.

By Color (United States).

SLCO1B1, TPMT, IFNL3, NUDT15, VKORC1, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, F5
Specificity
8 %
Genes
100 %
OneOme RightMed comprehensive test.

By OneOme (United States).

SLCO1B1, SLC6A4, TPMT, UGT1A1, IFNL3, NUDT15, VKORC1, CYP2B6, CYP2C18, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, DRD2, F2, F5, GRIK4 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
CEP72/NUDT15/TPMT Panel.

By RPRD Diagnostics, LLC RPRD Diagnostics, LLC (United States).

TPMT, NUDT15
Specificity
50 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. (United States).

BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2 , (...)

View the complete list with 555 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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