MCID: THP001
MIFTS: 20

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 52 71
Thiopurine Methyltransferase Deficiency 52
Thiopurines, Poor Metabolism of 52
6-Mercaptopurine Sensitivity 52
Poor Thiopurine Metabolism 29
Tpmt Deficiency 52

Classifications:



External Ids:

UMLS 71 C0342801

Summaries for Thiopurine S Methyltranferase Deficiency

NIH Rare Diseases : 52 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 neutropenia 10.2
6 crohn's disease 10.2
7 autoimmune disease 10.1
8 beta-thalassemia 10.1
9 crohn's colitis 10.1
10 thalassemia 10.1
11 diarrhea 10.1
12 sclerosing cholangitis 10.1
13 thrombocytopenia 10.1
14 hepatitis 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):


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

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:

40
Bone Marrow, Bone, Testes, Heart, Liver

Publications for Thiopurine S Methyltranferase Deficiency

Articles related to Thiopurine S Methyltranferase Deficiency:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Reducing risk in thiopurine therapy. 61
31682552 2020
2
Severe pancytopenia and aspergillosis caused by thioguanine in a thiopurine S-methyltransferase deficient patient: a case report. 61
31464791 2019
3
Modeling the Outcome of Systematic TPMT Genotyping or Phenotyping Before Azathioprine Prescription: A Cost-Effectiveness Analysis. 61
30963516 2019
4
Analytical and clinical validation of an LC-MS/MS method to measure thiopurine S-methyltransferase activity by quantifying d3-6-MMP. 61
29425801 2018
5
Differential effects of thiopurine methyltransferase (TPMT) and multidrug resistance-associated protein gene 4 (MRP4) on mercaptopurine toxicity. 61
28623449 2017
6
Azathioprine Therapy in a Pediatric TPMT-Deficient Patient-Still an Option. 61
28081040 2017
7
A Simple Method for TPMT and ITPA Genotyping Using Multiplex HRMA for Patients Treated with Thiopurine Drugs. 61
27307154 2016
8
Thiopurine S-methyltransferase testing for averting drug toxicity: a meta-analysis of diagnostic test accuracy. 61
27217052 2016
9
Pharmacogenomics for leukemia treatment. 61
27498738 2016
10
The Outlier in All of Us: Why Implementing Pharmacogenomics Could Matter for Everyone. 61
26756170 2016
11
Implementation of TPMT testing. 61
23962279 2014
12
High-resolution melting analysis of the TPMT gene: a study in the Polish population. 61
23252704 2013
13
Let's get personal: predicting thiopurine and fluoropyrimidine toxicity. 61
29776234 2012
14
Current relevance of pharmacogenetics in immunomodulation treatment for Crohn's disease. 61
22741564 2012
15
Establishment of thiopurine S-methyltransferase gene knockdown in jurkat T-lymphocytes: an in vitro model of TPMT polymorphism. 61
22972540 2012
16
Limitations of extensive TPMT genotyping in the management of azathioprine-induced myelosuppression in IBD patients. 61
21723857 2011
17
Novel thiopurine methyltransferase variant TPMT*28 results in a misdiagnosis of TPMT deficiency. 61
20945351 2011
18
Safe 6-thioguanine therapy of a TPMT deficient Crohn's disease patient by using therapeutic drug monitoring. 61
21172256 2009
19
Relationships between thiopurine S-methyltransferase polymorphism and azathioprine-related adverse drug reactions in Chinese renal transplant recipients. 61
19048245 2009
20
TPMT genetic variations in populations of the Russian Federation. 61
19034904 2009
21
Leukopenia due to parvovirus B19 in a Crohn's disease patient using azathioprine. 61
19390192 2009
22
Beyond TPMT: genetic influences on thiopurine drug responses in inflammatory bowel disease. 61
29783500 2008
23
Ethnic variation of thiopurine S-methyltransferase activity: a large, prospective population study. 61
18303966 2008
24
Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique. 61
17473918 2007
25
Assessment of thiopurine methyltransferase enzyme activity is superior to genotype in predicting myelosuppression following azathioprine therapy in patients with inflammatory bowel disease. 61
17439508 2007
26
Thiopurine S-methyltransferase gene polymorphism in Japanese patients with autoimmune liver diseases. 61
17241387 2007
27
Efficient screening method of the thiopurine methyltransferase polymorphisms for patients considering taking thiopurine drugs in a Chinese Han population in Henan Province (central China). 61
16952345 2007
28
Glutathione-S-transferase genotypes and the adverse effects of azathioprine in young patients with inflammatory bowel disease. 61
17206640 2007
29
Pharmacogenetics during standardised initiation of thiopurine treatment in inflammatory bowel disease. 61
16543290 2006
30
Two cases of thiopurine methyltransferase (TPMT) deficiency--a lucky save and a near miss with azathioprine. 61
16995868 2006
31
Rapid genotyping of common deficient thiopurine S-methyltransferase alleles using the DNA-microchip technique. 61
16724002 2006
32
Evolution of thiopurine use in pediatric inflammatory bowel disease in an academic center. 61
16954954 2006
33
Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia. 61
16789994 2006
34
Determination of intra-ethnic differences in the polymorphisms of thiopurine S-methyltransferase in Chinese. 61
16223474 2006
35
Pharmacoeconomic analyses of azathioprine, methotrexate and prospective pharmacogenetic testing for the management of inflammatory bowel disease. 61
16898847 2006
36
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. 61
16214825 2005
37
Relationship between red blood cell thiopurine methyltransferase activity and myelotoxicity in dogs receiving azathioprine. 61
15188821 2004
38
Analytic aspects of monitoring therapy with thiopurine medications. 61
15228169 2004
39
Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase). 61
15167706 2004
40
A multiplexed allele-specific polymerase chain reaction assay for the detection of common thiopurine S-methyltransferase (TPMT) mutations. 61
14967158 2004
41
Azathioprine as a treatment for severe atopic eczema in children with a partial thiopurine methyl transferase (TPMT) deficiency. 61
14651577 2003
42
Tertiary structure of thiopurine methyltransferase from Pseudomonas syringae, a bacterial orthologue of a polymorphic, drug-metabolizing enzyme. 61
14556746 2003
43
Drug methylation in cancer therapy: lessons from the TPMT polymorphism. 61
14576848 2003
44
A novel TPMT missense mutation associated with TPMT deficiency in a 5-year-old boy with ALL. 61
12835738 2003
45
Safe treatment of thiopurine S-methyltransferase deficient Crohn's disease patients with azathioprine. 61
12477776 2003
46
Mercaptopurine metabolite results in clinical gastroenterology practice. 61
12492734 2003
47
Thiopurine methyltransferase activity and the use of azathioprine in inflammatory bowel disease. 61
12269967 2002
48
Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact of thiopurine S-methyltransferase polymorphism. 61
12172211 2002
49
TPMT in the treatment of Crohn's disease with azathioprine. 61
12117866 2002
50
Shortcoming in the diagnosis of TPMT deficiency in a patient with Crohn's disease using phenotyping only. 61
11487563 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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