THPM1
MCID: THP004
MIFTS: 45

Thiopurines, Poor Metabolism of, 1 (THPM1)

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Thiopurines, Poor Metabolism of, 1

MalaCards integrated aliases for Thiopurines, Poor Metabolism of, 1:

Name: Thiopurines, Poor Metabolism of, 1 57
Thiopurine S-Methyltransferase Deficiency 57 11 42 14
Thiopurine Methyltransferase Deficiency 19 42 28 5
Tpmt Deficiency 57 11 19 42
Thiopurine S Methyltranferase Deficiency 19 43 71
Poor Metabolism of Thiopurines-1 11
Thiopurines, Poor Metabolism of 19
Poor Metabolism of Thiopurines 42
6-Mercaptopurine Sensitivity 19
Thpm1 57
Tpmtd 57

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza)
heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment


Classifications:



External Ids:

Disease Ontology 11 DOID:0080172
OMIM® 57 610460
OMIM Phenotypic Series 57 PS610460
MeSH 43 C536512
MedGen 40 C0342801
SNOMED-CT via HPO 69 191124002 34093004
UMLS 71 C0342801

Summaries for Thiopurines, Poor Metabolism of, 1

MedlinePlus Genetics: 42 Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. These drugs, which include 6-thioguanine, 6-mercaptopurine, and azathioprine, inhibit (suppress) the body's immune system. Thiopurine drugs are used to treat some autoimmune disorders, including Crohn disease and rheumatoid arthritis, which occur when the immune system malfunctions. These drugs are also used to treat several forms of cancer, particularly cancers of blood-forming tissue (leukemias) and cancers of immune system cells (lymphomas). Additionally, thiopurine drugs are used in organ transplant recipients to help prevent the immune system from attacking the transplanted organ.A potential complication of treatment with thiopurine drugs is damage to the bone marrow (hematopoietic toxicity). Although this complication can occur in anyone who takes these drugs, people with TPMT deficiency are at highest risk. Bone marrow normally makes several types of blood cells, including red blood cells, which carry oxygen; white blood cells, which help protect the body from infection; and platelets, which are involved in blood clotting. Damage to the bone marrow results in myelosuppression, a condition in which the bone marrow is unable to make enough of these cells. A shortage of red blood cells (anemia) can cause pale skin (pallor), weakness, shortness of breath, and extreme tiredness (fatigue). Low numbers of white blood cells (neutropenia) can lead to frequent and potentially life-threatening infections. A shortage of platelets (thrombocytopenia) can cause easy bruising and bleeding.Many healthcare providers recommend that patients' TPMT activity levels be tested before thiopurine drugs are prescribed. In people who are found to have reduced enzyme activity, the drugs may be given at a significantly lower dose or different medications can be used to reduce the risk of hematopoietic toxicity.TPMT deficiency does not appear to cause any health problems other than those associated with thiopurine drug treatment.

MalaCards based summary: Thiopurines, Poor Metabolism of, 1, also known as thiopurine s-methyltransferase deficiency, is related to autoimmune hepatitis and neutropenia. An important gene associated with Thiopurines, Poor Metabolism of, 1 is TPMT (Thiopurine S-Methyltransferase), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include bone marrow, bone and skin, and related phenotypes are abnormality of metabolism/homeostasis and abnormality of blood and blood-forming tissues

OMIM®: 57 THPM1 is an autosomal recessive trait associated with severe hematopoietic toxicity when patients are treated with standard doses of the antineoplastic agents 6-mercaptopurine (6MP) or 6-thioguanine (6TG), or the immunosuppressant azathioprine (AZA) (Lennard et al., 1989). The thiopurines are prodrugs that require extensive metabolism in order to exert their cytotoxic action. Azathioprine is nonenzymatically reduced to 6MP. 6MP and 6TG are activated by HPRT (308000) and subsequent steps to form cytotoxic thioguanine nucleotides (TGNs) which are incorporated into DNA and/or RNA, causing DNA-protein cross-links, single-strand breaks, interstrand cross-links, and sister chromatid exchange. TPMT functions mainly to inactivate these drugs; thus, a deficiency of TPMT results in increased conversion to toxic TGNs, which can result in myelosuppression (Coulthard and Hogarth, 2005). However, 6MP is unique in that it can also be converted via TPMT into a methyl-thioinosine 5-prime monophosphate (MeTIMP), a metabolite that inhibits de novo purine synthesis and likely contributes to the cytotoxic effect of 6MP (Vogt et al., 1993; Krynetski et al., 1995; Coulthard and Hogarth, 2005). (610460) (Updated 08-Dec-2022)

GARD: 19 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 genetic change 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. When the bone marrow is damaged, infections can cause health problems.

Disease Ontology: 11 An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.

Related Diseases for Thiopurines, Poor Metabolism of, 1

Diseases in the Thiopurines, Poor Metabolism of, 1 family:

Thiopurines, Poor Metabolism of, 2

Diseases related to Thiopurines, Poor Metabolism of, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 autoimmune hepatitis 30.0 UGT1A1 TPMT CYP2D6
2 neutropenia 29.1 UGT1A1 TPMT SLCO1B1 NUDT15 DPYD CYP3A5
3 liver disease 29.0 UGT1A1 SLCO1B1 CYP2D6 CYP2C19
4 thiopurines, poor metabolism of, 2 11.0
5 inflammatory bowel disease 1 10.3
6 crohn's disease 10.3
7 leukemia, acute lymphoblastic 10.3
8 gastroduodenal crohn's disease 10.2 TPMT NUDT15
9 leukemia, acute myeloid 10.1
10 colitis 10.1
11 ulcerative colitis 10.1
12 myeloid leukemia 10.1
13 acute myeloid leukemia with recurrent genetic anomaly 10.1
14 pyrimidine metabolic disorder 10.1 GMPS DPYD
15 cholangitis, primary sclerosing 10.1
16 beta-thalassemia 10.1
17 thalassemia 10.1
18 leukemia 10.1
19 diarrhea 10.1
20 sclerosing cholangitis 10.1
21 cholangitis 10.1
22 hypertrophy of tongue papillae 10.0 CYP2D6 CYP2C19
23 abacavir allergy 10.0 VKORC1 SLCO1B1
24 drug allergy 9.9 TPMT CYP2C19
25 dermatitis, atopic 9.9
26 dermatitis, atopic, 2 9.9
27 aplastic anemia 9.9
28 diffuse large b-cell lymphoma 9.9
29 lymphoproliferative syndrome 9.9
30 pancytopenia 9.9
31 dermatitis 9.9
32 lymphopenia 9.9
33 b-cell lymphoma 9.9
34 dubin-johnson syndrome 9.9 SLCO1B1 ABCC4
35 multiple chemical sensitivity 9.9 CYP3A5 CYP2D6 CYP2C19
36 orotic aciduria 9.8 GMPS DPYD
37 epicardium cancer 9.7 UGT1A8 UGT1A1
38 blood group incompatibility 9.7 UGT1A8 UGT1A1
39 nephrotic syndrome, type 20 9.5 UGT1A8 UGT1A6 UGT1A1
40 autosomal dominant beta thalassemia 9.5 UGT1A8 UGT1A6 UGT1A1
41 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 9.5 UGT1A8 UGT1A6 UGT1A1
42 bilirubin, serum level of, quantitative trait locus 1 9.5 UGT1A8 UGT1A6 UGT1A1
43 hyperbilirubinemia, transient familial neonatal 9.5 UGT1A8 UGT1A6 UGT1A1
44 kernicterus 9.5 UGT1A8 UGT1A6 UGT1A1
45 crigler-najjar syndrome, type ii 9.5 UGT1A8 UGT1A6 UGT1A1
46 cholelithiasis 9.5 UGT1A8 UGT1A6 UGT1A1
47 hereditary spherocytosis 9.5 UGT1A8 UGT1A6 UGT1A1
48 sickle cell anemia 9.4 UGT1A8 UGT1A6 UGT1A1
49 acetaminophen metabolism 9.4 UGT1A6 UGT1A1 CYP2D6 CYP2C19
50 dihydropyrimidine dehydrogenase deficiency 9.4 UGT1A8 UGT1A6 UGT1A1 DPYD

Graphical network of the top 20 diseases related to Thiopurines, Poor Metabolism of, 1:



Diseases related to Thiopurines, Poor Metabolism of, 1

Symptoms & Phenotypes for Thiopurines, Poor Metabolism of, 1

Human phenotypes related to Thiopurines, Poor Metabolism of, 1:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 30 HP:0001939
2 abnormality of blood and blood-forming tissues 30 HP:0001871

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
myelosuppression develops on standard doses of thiopurine drugs
hematopoietic toxicity develops on standard doses of thiopurine drugs

Laboratory Abnormalities:
decreased activity of thiopurine s-methyltransferase
decreased metabolism of thiopurine drugs
increased toxic thioguanine nucleotides (tgns) on standard doses of thiopurine drugs

Clinical features from OMIM®:

610460 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Thiopurines, Poor Metabolism of, 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.05 ABCC4 CYP2C19 CYP2D6 CYP3A5 DPYD GMPS
2 no effect GR00402-S-2 10.05 ABCC4 CYP2C19 CYP3A5 DPYD NUDT15 PACSIN2

Drugs & Therapeutics for Thiopurines, Poor Metabolism of, 1

Search Clinical Trials, NIH Clinical Center for Thiopurines, Poor Metabolism of, 1

Cochrane evidence based reviews: thiopurine s methyltranferase deficiency

Genetic Tests for Thiopurines, Poor Metabolism of, 1

Genetic tests related to Thiopurines, Poor Metabolism of, 1:

# Genetic test Affiliating Genes
1 Thiopurine Methyltransferase Deficiency 28 TPMT

Anatomical Context for Thiopurines, Poor Metabolism of, 1

Organs/tissues related to Thiopurines, Poor Metabolism of, 1:

MalaCards : Bone Marrow, Bone, Skin, Kidney, Heart, Liver, Myeloid

Publications for Thiopurines, Poor Metabolism of, 1

Articles related to Thiopurines, Poor Metabolism of, 1:

(show top 50) (show all 124)
# Title Authors PMID Year
1
A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. 62 57 5
7862671 1995
2
Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia. 62 57 5
1960624 1991
3
Severe azathioprine-induced myelotoxicity in a kidney transplant patient with thiopurine S-methyltransferase-deficient genotype (TPMT*3A/*3C). 57 5
15819814 2005
4
Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact of thiopurine S-methyltransferase polymorphism. 62 57
12172211 2002
5
Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. 62 57
11304783 2001
6
Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): mechanisms for the genetic polymorphism of TPMT activity. 62 5
9177237 1997
7
Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians. 62 5
8644731 1996
8
Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia. 62 57
8257179 1993
9
Explaining TPMT genotype/phenotype discrepancy by haplotyping of TPMT*3A and identification of a novel sequence variant, TPMT*23. 5
17885628 2007
10
Molecular analysis of thiopurine S-methyltransferase alleles in Taiwan aborigines and Taiwanese. 5
16476125 2006
11
The thiopurines: an update. 57
16267626 2005
12
Human thiopurine S-methyltransferase pharmacogenetics: variant allozyme misfolding and aggresome formation. 5
15967990 2005
13
Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia. 57
15784872 2005
14
Thiopurine S-methyltransferase: a genetic polymorphism that affects a small number of drugs in a big way. 57
12172209 2002
15
Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population. 5
10751626 2000
16
Thiopurine methyltransferase pharmacogenetics: alternative molecular diagnosis and preliminary data from Northern Portugal. 57
10376773 1999
17
The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. 5
10208641 1999
18
Polymorphism of the thiopurine S-methyltransferase gene in African-Americans. 5
9931346 1999
19
Thiopurine methyltransferase alleles in British and Ghanaian populations. 5
9931345 1999
20
Thiopurine methyltransferase genotype predicts therapy-limiting severe toxicity from azathioprine. 57
9841604 1998
21
Azathioprine-induced severe pancytopenia due to a homozygous two-point mutation of the thiopurine methyltransferase gene in a patient with juvenile HLA-B27-associated spondylarthritis. 5
9336428 1997
22
Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. 5
9246020 1997
23
Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. 5
8561894 1996
24
The importance of methylthio-IMP for methylmercaptopurine ribonucleoside (Me-MPR) cytotoxicity in Molt F4 human malignant T-lymphoblasts. 57
7683208 1993
25
Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient. 57
8094196 1993
26
Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. 57
1973780 1990
27
Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. 57
2758725 1989
28
Thiopurine pharmacogenetics in leukemia: correlation of erythrocyte thiopurine methyltransferase activity and 6-thioguanine nucleotide concentrations. 57
3467886 1987
29
Case Report: Multifocal EBV-Associated Diffuse Large B-Cell Lymphoma in a Patient With 6-MP Associated Lymphopenia With TPMT Deficiency. 62
35601437 2022
30
Cost-effectiveness analysis of genotype screening and therapeutic drug monitoring in patients with inflammatory bowel disease treated with azathioprine therapy: a Chinese healthcare perspective using real-world data. 62
34430579 2021
31
Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier. 62
32973300 2020
32
Reducing risk in thiopurine therapy. 62
31682552 2020
33
Severe pancytopenia and aspergillosis caused by thioguanine in a thiopurine S-methyltransferase deficient patient: a case report. 62
31464791 2019
34
Modeling the Outcome of Systematic TPMT Genotyping or Phenotyping Before Azathioprine Prescription: A Cost-Effectiveness Analysis. 62
30963516 2019
35
Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms. 62
29967377 2018
36
Analytical and clinical validation of an LC-MS/MS method to measure thiopurine S-methyltransferase activity by quantifying d3-6-MMP. 62
29425801 2018
37
Differential effects of thiopurine methyltransferase (TPMT) and multidrug resistance-associated protein gene 4 (MRP4) on mercaptopurine toxicity. 62
28623449 2017
38
Early Assessment of Thiopurine Metabolites Identifies Patients at Risk of Thiopurine-induced Leukopenia in Inflammatory Bowel Disease. 62
27402913 2017
39
Azathioprine Therapy in a Pediatric TPMT-Deficient Patient-Still an Option. 62
28081040 2017
40
Autoimmune hepatitis with sclerosing cholangitis in a patient with thiopurine methyltransferase deficiency: case presentation. 62
28523321 2017
41
A Simple Method for TPMT and ITPA Genotyping Using Multiplex HRMA for Patients Treated with Thiopurine Drugs. 62
27307154 2016
42
Thiopurine S-methyltransferase testing for averting drug toxicity: a meta-analysis of diagnostic test accuracy. 62
27217052 2016
43
Pharmacogenomics for leukemia treatment. 62
27498738 2016
44
The Outlier in All of Us: Why Implementing Pharmacogenomics Could Matter for Everyone. 62
26756170 2016
45
Update on thiopurine pharmacogenetics in inflammatory bowel disease. 62
26067482 2015
46
Implementation of TPMT testing. 62
23962279 2014
47
High-resolution melting analysis of the TPMT gene: a study in the Polish population. 62
23252704 2013
48
Let's get personal: predicting thiopurine and fluoropyrimidine toxicity. 62
29776234 2012
49
Current relevance of pharmacogenetics in immunomodulation treatment for Crohn's disease. 62
22741564 2012
50
Establishment of thiopurine S-methyltransferase gene knockdown in jurkat T-lymphocytes: an in vitro model of TPMT polymorphism. 62
22972540 2012

Variations for Thiopurines, Poor Metabolism of, 1

ClinVar genetic disease variations for Thiopurines, Poor Metabolism of, 1:

5 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TPMT NM_000367.5(TPMT):c.626-1G>A SNV Drug Response
12723 rs1800584 GRCh37: 6:18131012-18131012
GRCh38: 6:18130781-18130781
2 TPMT NM_000367.5(TPMT):c.644G>A (p.Arg215His) SNV Drug Response
12726 rs56161402 GRCh37: 6:18130993-18130993
GRCh38: 6:18130762-18130762
3 TPMT NM_000367.5(TPMT):c.500C>G (p.Ala167Gly) SNV Drug Response
12727 rs74423290 GRCh37: 6:18134115-18134115
GRCh38: 6:18133884-18133884
4 TPMT NM_000367.2(TPMT):c.238G>C (p.Ala80Pro) SNV Drug Response
12721 rs1800462 GRCh37: 6:18143955-18143955
GRCh38: 6:18143724-18143724
5 TPMT NM_000367.5(TPMT):c.460G>A (p.Ala154Thr) SNV Drug Response
12722 rs1800460 GRCh37: 6:18139228-18139228
GRCh38: 6:18138997-18138997
6 TPMT NM_000367.5(TPMT):c.460G>A (p.Ala154Thr) SNV Drug Response
37126 rs1800460 GRCh37: 6:18139228-18139228
GRCh38: 6:18138997-18138997
7 TPMT NM_000367.5(TPMT):c.719A>G (p.Tyr240Cys) SNV Drug Response
12725 rs1142345 GRCh37: 6:18130918-18130918
GRCh38: 6:18130687-18130687
8 TPMT NM_000367.4(TPMT):c.-138delG DEL Uncertain Significance
356125 rs543585967 GRCh37: 6:18155357-18155357
GRCh38: 6:18155126-18155126
9 TPMT NM_000367.5(TPMT):c.210C>T (p.Cys70=) SNV Uncertain Significance
356119 rs186214874 GRCh37: 6:18148077-18148077
GRCh38: 6:18147846-18147846
10 TPMT NM_000367.5(TPMT):c.*1778_*1781dup DUP Uncertain Significance
356089 rs886061256 GRCh37: 6:18129117-18129118
GRCh38: 6:18128886-18128887
11 TPMT NM_000367.5(TPMT):c.335T>A (p.Ile112Asn) SNV Uncertain Significance
356117 rs886061266 GRCh37: 6:18143858-18143858
GRCh38: 6:18143627-18143627
12 TPMT NM_000367.5(TPMT):c.*899_*902del DEL Uncertain Significance
356102 rs542619563 GRCh37: 6:18129997-18130000
GRCh38: 6:18129766-18129769
13 TPMT NM_000367.5(TPMT):c.*414G>A SNV Uncertain Significance
356108 rs528907381 GRCh37: 6:18130485-18130485
GRCh38: 6:18130254-18130254

Expression for Thiopurines, Poor Metabolism of, 1

Search GEO for disease gene expression data for Thiopurines, Poor Metabolism of, 1.

Pathways for Thiopurines, Poor Metabolism of, 1

Pathways related to Thiopurines, Poor Metabolism of, 1 according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.64 VKORC1 UGT1A8 UGT1A6 UGT1A1 TPMT SLCO1B1
2
Show member pathways
12.89 UGT1A8 UGT1A6 UGT1A1 TPMT CYP3A5 CYP2D6
3
Show member pathways
12.67 UGT1A6 UGT1A1 SLCO1B1 CYP3A5 CYP2C19 ABCC4
4 12.42 UGT1A8 UGT1A6 UGT1A1 GMPS CYP2D6 ABCC4
5
Show member pathways
12.35 NUDT15 ITPA GMPS DPYD
6
Show member pathways
12.11 UGT1A1 SLCO1B1 CYP3A5 CYP2D6 CYP2C19
7
Show member pathways
11.99 UGT1A8 UGT1A6 UGT1A1 TPMT SLCO1B1 NUDT15
8
Show member pathways
11.88 UGT1A6 UGT1A1 SLCO1B1 CYP3A5 CYP2D6 CYP2C19
9 11.72 UGT1A8 UGT1A6 UGT1A1
10
Show member pathways
11.71 UGT1A6 UGT1A1 CYP2D6 ABCC4
11
Show member pathways
11.56 UGT1A1 CYP3A5 CYP2D6
12
Show member pathways
11.56 UGT1A6 UGT1A1 SLCO1B1 CYP3A5 CYP2C19 ABCC4
13
Show member pathways
11.51 TPMT NUDT15 ITPA GMPS ABCC4
14
Show member pathways
11.43 CYP2C19 CYP2D6 CYP3A5 UGT1A8
15
Show member pathways
11.39 CYP2C19 CYP2D6 CYP3A5
16
Show member pathways
11.34 UGT1A8 UGT1A6 CYP2D6 CYP2C19
17
Show member pathways
11.3 UGT1A1 CYP3A5 CYP2D6
18
Show member pathways
11.25 UGT1A8 UGT1A6 UGT1A1
19
Show member pathways
11.25 CYP2C19 CYP2D6 CYP3A5 SLCO1B1 UGT1A1
20 11.24 SLCO1B1 CYP3A5
22 11.18 UGT1A1 TPMT
23 11.14 CYP2D6 CYP2C19
24 11.07 UGT1A8 UGT1A6 UGT1A1
25
Show member pathways
11.06 CYP2D6 CYP2C19
26
Show member pathways
11.06 UGT1A8 UGT1A6 UGT1A1 CYP3A5 CYP2D6 CYP2C19
27
Show member pathways
10.94 SLCO1B1 ABCC4
28 10.93 SLCO1B1 ABCC4
29
Show member pathways
10.86 CYP2D6 CYP2C19
30 10.85 SLCO1B1 ABCC4
31 10.79 CYP2D6 ABCC4
32 10.79 UGT1A1 CYP3A5
33 10.72 NUDT15 ABCC4

GO Terms for Thiopurines, Poor Metabolism of, 1

Cellular components related to Thiopurines, Poor Metabolism of, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.93 VKORC1 UGT1A8 UGT1A6 UGT1A1 CYP3A5 CYP2D6
2 endoplasmic reticulum membrane GO:0005789 9.8 VKORC1 UGT1A8 UGT1A6 UGT1A1 CYP3A5 CYP2D6
3 intracellular membrane-bounded organelle GO:0043231 9.47 VKORC1 UGT1A6 UGT1A1 PACSIN2 ITPA CYP3A5

Biological processes related to Thiopurines, Poor Metabolism of, 1 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 10.05 UGT1A8 UGT1A6 UGT1A1
2 lipid metabolic process GO:0006629 9.98 UGT1A8 UGT1A1 CYP3A5 CYP2D6 CYP2C19
3 organic acid metabolic process GO:0006082 9.9 CYP2D6 CYP2C19
4 oxidative demethylation GO:0070989 9.89 CYP3A5 CYP2D6
5 estrogen metabolic process GO:0008210 9.88 CYP2D6 CYP3A5 UGT1A1
6 coumarin metabolic process GO:0009804 9.85 CYP2D6 UGT1A8
7 retinoic acid metabolic process GO:0042573 9.85 UGT1A8 UGT1A1 CYP3A5
8 steroid metabolic process GO:0008202 9.85 CYP2C19 CYP2D6 CYP3A5 UGT1A1 UGT1A8
9 xenobiotic glucuronidation GO:0052697 9.84 UGT1A1 UGT1A8
10 monoterpenoid metabolic process GO:0016098 9.83 CYP2D6 CYP2C19
11 flavonoid glucuronidation GO:0052696 9.8 UGT1A8 UGT1A1
12 cellular glucuronidation GO:0052695 9.8 UGT1A8 UGT1A6 UGT1A1
13 flavone metabolic process GO:0051552 9.78 UGT1A8 UGT1A1
14 negative regulation of steroid metabolic process GO:0045939 9.76 UGT1A8 UGT1A1
15 nucleobase-containing small molecule metabolic process GO:0055086 9.74 NUDT15 DPYD
16 prostaglandin transport GO:0015732 9.73 SLCO1B1 ABCC4
17 alkaloid catabolic process GO:0009822 9.73 CYP3A5 CYP2D6
18 heterocycle metabolic process GO:0046483 9.73 UGT1A1 CYP2D6 CYP2C19
19 negative regulation of fatty acid metabolic process GO:0045922 9.69 UGT1A8 UGT1A1
20 xenobiotic catabolic process GO:0042178 9.65 TPMT NUDT15 CYP3A5 CYP2D6 CYP2C19
21 xenobiotic metabolic process GO:0006805 9.58 VKORC1 UGT1A6 UGT1A1 TPMT SLCO1B1 CYP3A5

Molecular functions related to Thiopurines, Poor Metabolism of, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 10.03 VKORC1 DPYD CYP3A5 CYP2D6 CYP2C19
2 monooxygenase activity GO:0004497 9.93 CYP3A5 CYP2D6 CYP2C19
3 prostaglandin transmembrane transporter activity GO:0015132 9.78 SLCO1B1 ABCC4
4 nucleoside triphosphate diphosphatase activity GO:0047429 9.71 NUDT15 ITPA
5 steroid hydroxylase activity GO:0008395 9.65 CYP3A5 CYP2D6 CYP2C19
6 glucuronosyltransferase activity GO:0015020 9.63 UGT1A8 UGT1A6 UGT1A1
7 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.54 CYP2C19 CYP2D6 CYP3A5
8 UDP-glycosyltransferase activity GO:0008194 9.5 UGT1A8 UGT1A6 UGT1A1
9 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen GO:0016712 9.35 CYP3A5 CYP2D6 CYP2C19
10 retinoic acid binding GO:0001972 9.02 UGT1A8 UGT1A6 UGT1A1

Sources for Thiopurines, Poor Metabolism of, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
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