Thiopurines, Poor Metabolism of, 2

Alternative Names

  • THPM2
  • NUDT15 Deficiency

Associated Genes

Nudix Hydrolase 15
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

616903

Mode of Inheritance

Autosomal dominant

Gene Map Locus

13q14.2

Description

Thiopurine toxicity 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. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
616903.1IraqMale B Acute Lymphoblastic LeukemiaNM_018283.4:c.415C>THeterozygousAutosomal, DominantZgheib et al. 2017
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