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IMPDH2 enzyme activity, variation in(IMPDH2V)

MedGen UID:
854804
•Concept ID:
C3888196
•
Finding
Synonym: IMPDH2V
 
Gene (location): IMPDH2 (3p21.31)
 
OMIM®: 617995

Recent clinical studies

Etiology

Interpatient variability in IMPDH activity in MMF-treated renal transplant patients is correlated with IMPDH type II 3757T > C polymorphism.
Sombogaard F, van Schaik RH, Mathot RA, Budde K, van der Werf M, Vulto AG, Weimar W, Glander P, Essioux L, van Gelder T
Pharmacogenet Genomics 2009 Aug;19(8):626-34. doi: 10.1097/FPC.0b013e32832f5f1b. PMID: 19617864
IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance.
Roberts RL, Gearry RB, Barclay ML, Kennedy MA
Pharmacogenomics J 2007 Oct;7(5):312-7. Epub 2006 Oct 17 doi: 10.1038/sj.tpj.6500421. PMID: 17001353

Therapy

IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance.
Roberts RL, Gearry RB, Barclay ML, Kennedy MA
Pharmacogenomics J 2007 Oct;7(5):312-7. Epub 2006 Oct 17 doi: 10.1038/sj.tpj.6500421. PMID: 17001353

Prognosis

IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance.
Roberts RL, Gearry RB, Barclay ML, Kennedy MA
Pharmacogenomics J 2007 Oct;7(5):312-7. Epub 2006 Oct 17 doi: 10.1038/sj.tpj.6500421. PMID: 17001353

Clinical prediction guides

Interpatient variability in IMPDH activity in MMF-treated renal transplant patients is correlated with IMPDH type II 3757T > C polymorphism.
Sombogaard F, van Schaik RH, Mathot RA, Budde K, van der Werf M, Vulto AG, Weimar W, Glander P, Essioux L, van Gelder T
Pharmacogenet Genomics 2009 Aug;19(8):626-34. doi: 10.1097/FPC.0b013e32832f5f1b. PMID: 19617864
IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance.
Roberts RL, Gearry RB, Barclay ML, Kennedy MA
Pharmacogenomics J 2007 Oct;7(5):312-7. Epub 2006 Oct 17 doi: 10.1038/sj.tpj.6500421. PMID: 17001353

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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