NUDT15 gene related symptoms and diseases
All the information presented here about the NUDT15 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Rare diseases associated to NUDT15 gene
Here you will find a list of rare diseases related to the NUDT15. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
THIOPURINES, POOR METABOLISM OF, 2; THPM2
THIOPURINES, POOR METABOLISM OF, 2; THPM2 Is also known as nudt15 deficiency
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 ).
More info about THIOPURINES, POOR METABOLISM OF, 2; THPM2
Search interest in NUDT15
Potential gene panels for NUDT15 gene
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NUDT15 gene.More info about this panel
Medication Response Genetic Test Panel
By Color Medication Response Genetic Test that also includes the following genes: SLCO1B1 TPMT IFNL3 NUDT15 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5More info about this panel
OneOme RightMed comprehensive test Panel
By OneOme OneOme RightMed comprehensive test that also includes the following genes: SLCO1B1 SLC6A4 TPMT UGT1A1 IFNL3 NUDT15 VKORC1 CYP2B6 CYP2C18 CYP2C19More info about this panel
CEP72/NUDT15/TPMT Panel Panel
By RPRD Diagnostics, LLC RPRD Diagnostics, LLC CEP72/NUDT15/TPMT Panel that also includes the following genes: TPMT NUDT15More info about this panel
Tempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRAMore info about this panel
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ASMT