MCID: THP001
MIFTS: 21

Thiopurine S Methyltranferase Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Thiopurine S Methyltranferase Deficiency

MalaCards integrated aliases for Thiopurine S Methyltranferase Deficiency:

Name: Thiopurine S Methyltranferase Deficiency 53 72
Thiopurine Methyltransferase Deficiency 53
Thiopurines, Poor Metabolism of 53
6-Mercaptopurine Sensitivity 53
Poor Thiopurine Metabolism 29
Tpmt Deficiency 53

Classifications:



External Ids:

UMLS 72 C0342801

Summaries for Thiopurine S Methyltranferase Deficiency

NIH Rare Diseases : 53 Thiopurine S-methyltransferase deficiency is an autosomal recessive disorder that affects the body's ability to metabolize thiopurine drugs. Thiopurine S-methyltransferase (TPMT) is an enzyme that the body uses to break down thiopurine drugs. Thiopurine S-methyltransferase deficiency patients have a mutation in either one or both copies of the TPMT gene that causes reduced enzyme activity and difficulties breaking down thiopurine drugs. Affected individuals are at a high risk of experiencing bone marrow damage if they take thiopurine drugs. Many patients recover from the bone marrow damage once thiopurine drug use is stopped. However when the bone marrow is damaged, infections can cause serious health problems and may be life-threatening. To reduce the risk of bone marrow damage, thiopurine therapy should be lowered based on how many mutations a patient has in the TPMT gene.

MalaCards based summary : Thiopurine S Methyltranferase Deficiency, also known as thiopurine methyltransferase deficiency, is related to thiopurines, poor metabolism of, 2 and thiopurines, poor metabolism of, 1. The drugs Azathioprine and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and testes.

Related Diseases for Thiopurine S Methyltranferase Deficiency

Diseases related to Thiopurine S Methyltranferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 thiopurines, poor metabolism of, 2 12.7
2 thiopurines, poor metabolism of, 1 11.7
3 autoimmune hepatitis 10.3
4 leukemia, acute lymphoblastic 10.2
5 lymphocytic leukemia 10.2
6 neutropenia 10.2
7 crohn's disease 10.2
8 autoimmune disease 10.1
9 beta-thalassemia 10.1
10 crohn's colitis 10.1
11 thalassemia 10.1
12 diarrhea 10.1
13 sclerosing cholangitis 10.1
14 thrombocytopenia 10.1
15 liver disease 10.1
16 cholangitis 10.1
17 dermatitis, atopic 10.0
18 inflammatory bowel disease 10.0
19 pancytopenia 10.0
20 dermatitis 10.0
21 leukemia 9.9

Graphical network of the top 20 diseases related to Thiopurine S Methyltranferase Deficiency:



Diseases related to Thiopurine S Methyltranferase Deficiency

Symptoms & Phenotypes for Thiopurine S Methyltranferase Deficiency

Drugs & Therapeutics for Thiopurine S Methyltranferase Deficiency

Drugs for Thiopurine S Methyltranferase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azathioprine Approved 446-86-6 2265
2 Immunologic Factors
3 Immunosuppressive Agents
4 Antimetabolites
5 Antimetabolites, Antineoplastic
6 Antirheumatic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Functional Pharmacogenomics of Childhood Acute Lymphoblastic Leukemia in Taiwan Unknown status NCT00526084
2 Correlation of Genetic Polymorphism of Two Azathioprine Metabolizing Enzymes and Their Correlation to Clinical Adverse Effects Completed NCT00525473 Azathioprine

Search NIH Clinical Center for Thiopurine S Methyltranferase Deficiency

Genetic Tests for Thiopurine S Methyltranferase Deficiency

Genetic tests related to Thiopurine S Methyltranferase Deficiency:

# Genetic test Affiliating Genes
1 Poor Thiopurine Metabolism 29

Anatomical Context for Thiopurine S Methyltranferase Deficiency

MalaCards organs/tissues related to Thiopurine S Methyltranferase Deficiency:

41
Bone Marrow, Bone, Testes, Liver, Heart

Publications for Thiopurine S Methyltranferase Deficiency

Articles related to Thiopurine S Methyltranferase Deficiency:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Modeling the Outcome of Systematic TPMT Genotyping or Phenotyping Before Azathioprine Prescription: A Cost-Effectiveness Analysis. 38
30963516 2019
2
Analytical and clinical validation of an LC-MS/MS method to measure thiopurine S-methyltransferase activity by quantifying d3-6-MMP. 38
29425801 2018
3
Differential effects of thiopurine methyltransferase (TPMT) and multidrug resistance-associated protein gene 4 (MRP4) on mercaptopurine toxicity. 38
28623449 2017
4
Azathioprine Therapy in a Pediatric TPMT-Deficient Patient-Still an Option. 38
28081040 2017
5
A Simple Method for TPMT and ITPA Genotyping Using Multiplex HRMA for Patients Treated with Thiopurine Drugs. 38
27307154 2016
6
Thiopurine S-methyltransferase testing for averting drug toxicity: a meta-analysis of diagnostic test accuracy. 38
27217052 2016
7
Pharmacogenomics for leukemia treatment. 38
27498738 2016
8
The Outlier in All of Us: Why Implementing Pharmacogenomics Could Matter for Everyone. 38
26756170 2016
9
Implementation of TPMT testing. 38
23962279 2014
10
High-resolution melting analysis of the TPMT gene: a study in the Polish population. 38
23252704 2013
11
Let's get personal: predicting thiopurine and fluoropyrimidine toxicity. 38
29776234 2012
12
Establishment of thiopurine S-methyltransferase gene knockdown in jurkat T-lymphocytes: an in vitro model of TPMT polymorphism. 38
22972540 2012
13
Current relevance of pharmacogenetics in immunomodulation treatment for Crohn's disease. 38
22741564 2012
14
Limitations of extensive TPMT genotyping in the management of azathioprine-induced myelosuppression in IBD patients. 38
21723857 2011
15
Novel thiopurine methyltransferase variant TPMT*28 results in a misdiagnosis of TPMT deficiency. 38
20945351 2011
16
Safe 6-thioguanine therapy of a TPMT deficient Crohn's disease patient by using therapeutic drug monitoring. 38
21172256 2009
17
Relationships between thiopurine S-methyltransferase polymorphism and azathioprine-related adverse drug reactions in Chinese renal transplant recipients. 38
19048245 2009
18
TPMT genetic variations in populations of the Russian Federation. 38
19034904 2009
19
Leukopenia due to parvovirus B19 in a Crohn's disease patient using azathioprine. 38
19390192 2009
20
Beyond TPMT: genetic influences on thiopurine drug responses in inflammatory bowel disease. 38
29783500 2008
21
Ethnic variation of thiopurine S-methyltransferase activity: a large, prospective population study. 38
18303966 2008
22
Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique. 38
17473918 2007
23
Assessment of thiopurine methyltransferase enzyme activity is superior to genotype in predicting myelosuppression following azathioprine therapy in patients with inflammatory bowel disease. 38
17439508 2007
24
Thiopurine S-methyltransferase gene polymorphism in Japanese patients with autoimmune liver diseases. 38
17241387 2007
25
Efficient screening method of the thiopurine methyltransferase polymorphisms for patients considering taking thiopurine drugs in a Chinese Han population in Henan Province (central China). 38
16952345 2007
26
Glutathione-S-transferase genotypes and the adverse effects of azathioprine in young patients with inflammatory bowel disease. 38
17206640 2007
27
Pharmacogenetics during standardised initiation of thiopurine treatment in inflammatory bowel disease. 38
16543290 2006
28
Two cases of thiopurine methyltransferase (TPMT) deficiency--a lucky save and a near miss with azathioprine. 38
16995868 2006
29
Rapid genotyping of common deficient thiopurine S-methyltransferase alleles using the DNA-microchip technique. 38
16724002 2006
30
Evolution of thiopurine use in pediatric inflammatory bowel disease in an academic center. 38
16954954 2006
31
Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia. 38
16789994 2006
32
Determination of intra-ethnic differences in the polymorphisms of thiopurine S-methyltransferase in Chinese. 38
16223474 2006
33
Pharmacoeconomic analyses of azathioprine, methotrexate and prospective pharmacogenetic testing for the management of inflammatory bowel disease. 38
16898847 2006
34
Association of inosine triphosphatase 94C>A and thiopurine S-methyltransferase deficiency with adverse events and study drop-outs under azathioprine therapy in a prospective Crohn disease study. 38
16214825 2005
35
Relationship between red blood cell thiopurine methyltransferase activity and myelotoxicity in dogs receiving azathioprine. 38
15188821 2004
36
Analytic aspects of monitoring therapy with thiopurine medications. 38
15228169 2004
37
Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase). 38
15167706 2004
38
A multiplexed allele-specific polymerase chain reaction assay for the detection of common thiopurine S-methyltransferase (TPMT) mutations. 38
14967158 2004
39
Azathioprine as a treatment for severe atopic eczema in children with a partial thiopurine methyl transferase (TPMT) deficiency. 38
14651577 2003
40
Drug methylation in cancer therapy: lessons from the TPMT polymorphism. 38
14576848 2003
41
Tertiary structure of thiopurine methyltransferase from Pseudomonas syringae, a bacterial orthologue of a polymorphic, drug-metabolizing enzyme. 38
14556746 2003
42
A novel TPMT missense mutation associated with TPMT deficiency in a 5-year-old boy with ALL. 38
12835738 2003
43
Safe treatment of thiopurine S-methyltransferase deficient Crohn's disease patients with azathioprine. 38
12477776 2003
44
Mercaptopurine metabolite results in clinical gastroenterology practice. 38
12492734 2003
45
Thiopurine methyltransferase activity and the use of azathioprine in inflammatory bowel disease. 38
12269967 2002
46
Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact of thiopurine S-methyltransferase polymorphism. 38
12172211 2002
47
TPMT in the treatment of Crohn's disease with azathioprine. 38
12117866 2002
48
Shortcoming in the diagnosis of TPMT deficiency in a patient with Crohn's disease using phenotyping only. 38
11487563 2001
49
Human thiopurine S-methyltransferase activity in uremia and after renal transplantation. 38
11417444 2001
50
Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. 38
11304783 2001

Variations for Thiopurine S Methyltranferase Deficiency

Expression for Thiopurine S Methyltranferase Deficiency

Search GEO for disease gene expression data for Thiopurine S Methyltranferase Deficiency.

Pathways for Thiopurine S Methyltranferase Deficiency

GO Terms for Thiopurine S Methyltranferase Deficiency

Sources for Thiopurine S Methyltranferase Deficiency

3 CDC
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10 dbSNP
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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