KEGG DISEASE: Poor metabolism of thiopurines

KEGG

DISEASE: Poor metabolism of thiopurines

Entry

H00964                      Disease

Name

Poor metabolism of thiopurines

Subgroup

Thiopurine S-methyltransferase deficiency

Description

Poor metabolism of thiopurines (THPM) 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. Recent studies identified germline NUDT15 variation as another critical determinant of thiopurine intolerance.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C55  Inborn errors of purine, pyrimidine or nucleotide metabolism
     H00964  Poor metabolism of thiopurines

Pathway

Drug metabolism - other enzymes

Gene

(THPM1) TPMT [HSA:7172] [KO:K00569]
(THPM2) NUDT15 [HSA:55270] [KO:K03574]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

PMID:20354201 (THPM1)

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

Reference

PMID:26878724 (THPM2)

Authors

Moriyama T, Nishii R, Perez-Andreu V, Yang W, Klussmann FA, Zhao X, Lin TN, Hoshitsuki K, Nersting J, Kihira K, Hofmann U, Komada Y, Kato M, McCorkle R, Li L, Koh K, Najera CR, Kham SK, Isobe T, Chen Z, Chiew EK, Bhojwani D, Jeffries C, Lu Y, Schwab M, Inaba H, Pui CH, Relling MV, Manabe A, Hori H, Schmiegelow K, Yeoh AE, Evans WE, Yang JJ

Title

NUDT15 polymorphisms alter thiopurine metabolism and hematopoietic toxicity.

Journal

Nat Genet 48:367-73 (2016)
DOI:10.1038/ng.3508

LinkDB

» Japanese version

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