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


Alternate names

THIOPURINES, POOR METABOLISM OF, 2; THPM2 Is also known as nudt15 deficiency

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 ).


More info about THIOPURINES, POOR METABOLISM OF, 2; THPM2

SOURCES: OMIM


Potential gene panels for NUDT15 gene

NUDT15 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NUDT15 gene.

More info about this panel

Medication Response Genetic Test Panel

United States.

By Color Medication Response Genetic Test that also includes the following genes: SLCO1B1 TPMT IFNL3 NUDT15 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5

More info about this panel

OneOme RightMed comprehensive test Panel

United States.

By OneOme OneOme RightMed comprehensive test that also includes the following genes: SLCO1B1 SLC6A4 TPMT UGT1A1 IFNL3 NUDT15 VKORC1 CYP2B6 CYP2C18 CYP2C19

More info about this panel

CEP72/NUDT15/TPMT Panel Panel

United States.

By RPRD Diagnostics, LLC RPRD Diagnostics, LLC CEP72/NUDT15/TPMT Panel that also includes the following genes: TPMT NUDT15

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel


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