THPM1
MCID: THP004
MIFTS: 44

Thiopurines, Poor Metabolism of, 1 (THPM1)

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Metabolic diseases

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 12 25 37 15 40
Thiopurine Methyltransferase Deficiency 25 29 6
Tpmt Deficiency 57 12 25
Thiopurine S-Methyltransferase Deficiency; Tpmtd 57
Thiopurine S Methyltranferase Deficiency 72
Poor Metabolism of Thiopurines-1 12
Poor Metabolism of Thiopurines 25
Thpm1 57
Tpmtd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
thiopurines, poor metabolism of, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080172
KEGG 37 H00964
MedGen 42 C0342801
UMLS 72 C0342801

Summaries for Thiopurines, Poor Metabolism of, 1

Genetics Home Reference : 25 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 blood cell fragments that are 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 thiopurine s methyltranferase deficiency and thiopurines, poor metabolism of, 2. An important gene associated with Thiopurines, Poor Metabolism of, 1 is TPMT (Thiopurine S-Methyltransferase), and among its related pathways/superpathways are Drug metabolism - other enzymes and Metabolism. The drugs Azathioprine and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and bone, and related phenotypes are abnormality of metabolism/homeostasis and abnormality of blood and blood-forming tissues

Disease Ontology : 12 An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.

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)

KEGG : 37
Thiopurine S-methyltransferase deficiency (TPMT deficiency) 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.

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 all 28)
# Related Disease Score Top Affiliating Genes
1 thiopurine s methyltranferase deficiency 12.1
2 thiopurines, poor metabolism of, 2 11.3
3 crohn's disease 10.4
4 inflammatory bowel disease 10.3
5 autoimmune hepatitis 10.3
6 neutropenia 10.2
7 autoimmune disease 10.2
8 leukemia, acute myeloid 10.2
9 leukemia, acute lymphoblastic 10.2
10 colitis 10.2
11 crohn's colitis 10.2
12 lymphocytic leukemia 10.2
13 pancytopenia 10.2
14 ulcerative colitis 10.2
15 myeloid leukemia 10.2
16 azathioprine or 6-mercatopurine toxicity or dose selection 10.1 TPMT NUDT15
17 beta-thalassemia 10.1
18 thalassemia 10.1
19 leukemia 10.1
20 diarrhea 10.1
21 sclerosing cholangitis 10.1
22 thrombocytopenia 10.1
23 liver disease 10.1
24 cholangitis 10.1
25 dermatitis, atopic 10.0
26 dermatitis 10.0
27 nodular regenerative hyperplasia 10.0 TPMT ITPA
28 adenosine deaminase deficiency 9.7 PNP ITPA

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:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 abnormality of blood and blood-forming tissues 32 HP:0001871

Symptoms via clinical synopsis from OMIM:

57
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

Drugs & Therapeutics for Thiopurines, Poor Metabolism of, 1

Drugs for Thiopurines, Poor Metabolism of, 1 (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 Thiopurines, Poor Metabolism of, 1

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 29 TPMT

Anatomical Context for Thiopurines, Poor Metabolism of, 1

MalaCards organs/tissues related to Thiopurines, Poor Metabolism of, 1:

41
Skin, Testes, Bone, Bone Marrow, Heart, Kidney, Myeloid

Publications for Thiopurines, Poor Metabolism of, 1

Articles related to Thiopurines, Poor Metabolism of, 1:

(show all 41)
# Title Authors PMID Year
1
Severe azathioprine-induced myelotoxicity in a kidney transplant patient with thiopurine S-methyltransferase-deficient genotype (TPMT*3A/*3C). 8 71
15819814 2005
2
A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. 8 71
7862671 1995
3
Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia. 8 71
1960624 1991
4
Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. 38 8
11304783 2001
5
Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians. 38 71
8644731 1996
6
Explaining TPMT genotype/phenotype discrepancy by haplotyping of TPMT*3A and identification of a novel sequence variant, TPMT*23. 71
17885628 2007
7
Molecular analysis of thiopurine S-methyltransferase alleles in Taiwan aborigines and Taiwanese. 71
16476125 2006
8
The thiopurines: an update. 8
16267626 2005
9
Human thiopurine S-methyltransferase pharmacogenetics: variant allozyme misfolding and aggresome formation. 71
15967990 2005
10
Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia. 8
15784872 2005
11
Thiopurine S-methyltransferase: a genetic polymorphism that affects a small number of drugs in a big way. 8
12172209 2002
12
Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact of thiopurine S-methyltransferase polymorphism. 8
12172211 2002
13
Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population. 71
10751626 2000
14
Thiopurine methyltransferase pharmacogenetics: alternative molecular diagnosis and preliminary data from Northern Portugal. 8
10376773 1999
15
Thiopurine methyltransferase alleles in British and Ghanaian populations. 71
9931345 1999
16
Polymorphism of the thiopurine S-methyltransferase gene in African-Americans. 71
9931346 1999
17
The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. 71
10208641 1999
18
Thiopurine methyltransferase genotype predicts therapy-limiting severe toxicity from azathioprine. 8
9841604 1998
19
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. 71
9336428 1997
20
Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. 71
9246020 1997
21
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. 71
9177237 1997
22
Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. 71
8561894 1996
23
Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia. 8
8257179 1993
24
The importance of methylthio-IMP for methylmercaptopurine ribonucleoside (Me-MPR) cytotoxicity in Molt F4 human malignant T-lymphoblasts. 8
7683208 1993
25
Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient. 8
8094196 1993
26
Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. 8
1973780 1990
27
Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. 8
2758725 1989
28
Thiopurine pharmacogenetics in leukemia: correlation of erythrocyte thiopurine methyltransferase activity and 6-thioguanine nucleotide concentrations. 8
3467886 1987
29
Early Assessment of Thiopurine Metabolites Identifies Patients at Risk of Thiopurine-induced Leukopenia in Inflammatory Bowel Disease. 38
27402913 2017
30
Update on thiopurine pharmacogenetics in inflammatory bowel disease. 38
26067482 2015
31
Evidence for a functional genetic polymorphism of the Rho-GTPase Rac1. Implication in azathioprine response? 38
21372752 2011
32
Thiopurine S-methyltransferase deficiency associated with a novel mutation. 38
20186941 2010
33
Transporter-mediated protection against thiopurine-induced hematopoietic toxicity. 38
18593894 2008
34
Azathioprine-associated acute myeloid leukemia in a patient with Crohn's disease and thiopurine S-methyltransferase deficiency. 38
17696202 2008
35
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
36
[Pharmacogenetics: Important aspects for dermatology]. 38
15645192 2005
37
Allelic variants of the thiopurine S-methyltransferase deficiency in patients with ulcerative colitis and in healthy controls. 38
11007234 2000
38
Molecular diagnosis of thiopurine S-methyltransferase deficiency. 38
9412292 1997
39
Acute lymphoblastic leukemia. 38
9286287 1997
40
Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. 38
9103127 1997
41
Thiopurine S-methyltransferase activity in a Chinese population. 38
8330462 1993

Variations for Thiopurines, Poor Metabolism of, 1

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

6 (show all 50)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TPMT NM_000367.4(TPMT): c.719A> G (p.Tyr240Cys) single nucleotide variant other rs1142345 6:18130918-18130918 6:18130687-18130687
2 TPMT NM_000367.4(TPMT): c.460G> A (p.Ala154Thr) single nucleotide variant other rs1800460 6:18139228-18139228 6:18138997-18138997
3 TPMT NM_000367.4(TPMT): c.626-1G> A single nucleotide variant drug response rs1800584 6:18131012-18131012 6:18130781-18130781
4 TPMT NM_000367.4(TPMT): c.644G> A (p.Arg215His) single nucleotide variant drug response rs56161402 6:18130993-18130993 6:18130762-18130762
5 TPMT NM_000367.4(TPMT): c.500C> G (p.Ala167Gly) single nucleotide variant drug response rs74423290 6:18134115-18134115 6:18133884-18133884
6 TPMT NM_000367.2(TPMT): c.238G> C (p.Ala80Pro) single nucleotide variant drug response rs1800462 6:18143955-18143955 6:18143724-18143724
7 TPMT NM_000367.4(TPMT): c.-30T> A single nucleotide variant Uncertain significance rs376768623 6:18149388-18149388 6:18149157-18149157
8 TPMT NM_000367.4(TPMT): c.*1658C> A single nucleotide variant Uncertain significance rs886061257 6:18129241-18129241 6:18129010-18129010
9 TPMT NM_000367.4(TPMT): c.*501G> C single nucleotide variant Uncertain significance rs886061262 6:18130398-18130398 6:18130167-18130167
10 TPMT NM_000367.4(TPMT): c.*414G> A single nucleotide variant Uncertain significance rs528907381 6:18130485-18130485 6:18130254-18130254
11 TPMT NM_000367.4(TPMT): c.620T> G (p.Leu207Trp) single nucleotide variant Uncertain significance rs761626260 6:18132369-18132369 6:18132138-18132138
12 TPMT NM_000367.4(TPMT): c.339C> T (p.Thr113=) single nucleotide variant Uncertain significance rs17839843 6:18143854-18143854 6:18143623-18143623
13 TPMT NM_000367.4(TPMT): c.292G> T (p.Glu98Ter) single nucleotide variant Uncertain significance rs72552739 6:18143901-18143901 6:18143670-18143670
14 TPMT NM_000367.4(TPMT): c.210C> T (p.Cys70=) single nucleotide variant Uncertain significance rs186214874 6:18148077-18148077 6:18147846-18147846
15 TPMT NM_000367.4(TPMT): c.141-10T> C single nucleotide variant Uncertain significance rs757278118 6:18148156-18148156 6:18147925-18147925
16 TPMT NM_000367.4(TPMT): c.-45+11T> C single nucleotide variant Uncertain significance rs886061267 6:18155253-18155253 6:18155022-18155022
17 TPMT NM_000367.4(TPMT): c.-138del deletion Uncertain significance rs543585967 6:18155357-18155357 6:18155126-18155126
18 TPMT NM_000367.4(TPMT): c.420-4G> A single nucleotide variant Uncertain significance rs56019966 6:18139272-18139272 6:18139041-18139041
19 TPMT NM_000367.4(TPMT): c.*1873G> A single nucleotide variant Uncertain significance rs886061255 6:18129026-18129026 6:18128795-18128795
20 TPMT NM_000367.4(TPMT): c.*1804G> T single nucleotide variant Uncertain significance rs559243767 6:18129095-18129095 6:18128864-18128864
21 TPMT NM_000367.4(TPMT): c.*1778_*1781dup duplication Uncertain significance rs886061256 6:18129118-18129121 6:18128887-18128890
22 TPMT NM_000367.4(TPMT): c.*1757del deletion Uncertain significance rs748123873 6:18129142-18129142 6:18128911-18128911
23 TPMT NM_000367.4(TPMT): c.*1522C> T single nucleotide variant Uncertain significance rs116170115 6:18129377-18129377 6:18129146-18129146
24 TPMT NM_000367.4(TPMT): c.*1204G> A single nucleotide variant Uncertain significance rs886061260 6:18129695-18129695 6:18129464-18129464
25 TPMT NM_000367.4(TPMT): c.*523G> A single nucleotide variant Uncertain significance rs886061261 6:18130376-18130376 6:18130145-18130145
26 TPMT NM_000367.4(TPMT): c.*329A> G single nucleotide variant Uncertain significance rs886061263 6:18130570-18130570 6:18130339-18130339
27 TPMT NM_000367.4(TPMT): c.375G> A (p.Ser125=) single nucleotide variant Uncertain significance rs760980416 6:18139940-18139940 6:18139709-18139709
28 TPMT NM_000367.4(TPMT): c.-44-4G> A single nucleotide variant Uncertain significance rs202034437 6:18149406-18149406 6:18149175-18149175
29 TPMT NM_000367.4(TPMT): c.-66C> T single nucleotide variant Uncertain significance rs141028204 6:18155285-18155285 6:18155054-18155054
30 TPMT NM_000367.4(TPMT): c.*1820A> G single nucleotide variant Uncertain significance rs1142374 6:18129079-18129079 6:18128848-18128848
31 TPMT NM_000367.4(TPMT): c.*1511G> A single nucleotide variant Uncertain significance rs553500255 6:18129388-18129388 6:18129157-18129157
32 TPMT NM_000367.4(TPMT): c.*1305C> G single nucleotide variant Uncertain significance rs144017186 6:18129594-18129594 6:18129363-18129363
33 TPMT NM_000367.4(TPMT): c.*1218G> A single nucleotide variant Uncertain significance rs186206580 6:18129681-18129681 6:18129450-18129450
34 TPMT NM_000367.4(TPMT): c.*634dup duplication Uncertain significance rs760084154 6:18130265-18130265 6:18130034-18130034
35 TPMT NM_000367.4(TPMT): c.*515G> A single nucleotide variant Uncertain significance rs145605593 6:18130384-18130384 6:18130153-18130153
36 TPMT NM_000367.4(TPMT): c.*60T> C single nucleotide variant Uncertain significance rs886061264 6:18130839-18130839 6:18130608-18130608
37 TPMT NM_000367.4(TPMT): c.335T> A (p.Ile112Asn) single nucleotide variant Uncertain significance rs886061266 6:18143858-18143858 6:18143627-18143627
38 TPMT NM_000367.4(TPMT): c.*2340T> C single nucleotide variant Uncertain significance rs539430078 6:18128559-18128559 6:18128328-18128328
39 TPMT NM_000367.4(TPMT): c.*1590T> C single nucleotide variant Uncertain significance rs886061258 6:18129309-18129309 6:18129078-18129078
40 TPMT NM_000367.4(TPMT): c.*1285G> A single nucleotide variant Uncertain significance rs886061259 6:18129614-18129614 6:18129383-18129383
41 TPMT NM_000367.4(TPMT): c.*1221T> C single nucleotide variant Uncertain significance rs146425737 6:18129678-18129678 6:18129447-18129447
42 TPMT NM_000367.4(TPMT): c.*1177G> A single nucleotide variant Uncertain significance rs139793761 6:18129722-18129722 6:18129491-18129491
43 TPMT NM_000367.4(TPMT): c.*899_*902del deletion Uncertain significance rs542619563 6:18129997-18130000 6:18129766-18129769
44 TPMT NM_000367.4(TPMT): c.*514C> T single nucleotide variant Uncertain significance rs532306797 6:18130385-18130385 6:18130154-18130154
45 TPMT NM_000367.4(TPMT): c.*44G> A single nucleotide variant Uncertain significance rs886061265 6:18130855-18130855 6:18130624-18130624
46 TPMT NM_000367.4(TPMT): c.580+14G> T single nucleotide variant Likely benign rs2842949 6:18134021-18134021 6:18133790-18133790
47 TPMT NM_000367.4(TPMT): c.474= (p.Ile158=) single nucleotide variant Likely benign rs2842934 6:18139214-18139214 6:18138983-18138983
48 TPMT NM_000367.4(TPMT): c.*1604G> A single nucleotide variant Likely benign rs9465100 6:18129295-18129295 6:18129064-18129064
49 TPMT NM_000367.4(TPMT): c.*1900A> C single nucleotide variant Likely benign rs1142378 6:18128999-18128999 6:18128768-18128768
50 TPMT NM_000367.4(TPMT): c.*2240A> T single nucleotide variant Likely benign rs7886 6:18128659-18128659 6:18128428-18128428

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 KEGG:

37
# Name Kegg Source Accession
1 Drug metabolism - other enzymes hsa00983

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 TYR TPMT PRSS3 PNP NUDT15 NT5C
2 11.16 RAB3D PRSS3
3 10.23 TPMT NUDT15 ITPA

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 cytosol GO:0005829 9.17 TYR TPMT PNP NUDT15 NT5C ITPA

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.43 RAB3D PRSS3 PNP
2 nucleobase-containing compound metabolic process GO:0006139 9.16 TPMT PNP
3 nucleotide metabolic process GO:0009117 8.96 NT5C ITPA
4 purine nucleotide catabolic process GO:0006195 8.92 PNP NUDT15 NT5C ITPA

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide diphosphatase activity GO:0004551 9.16 NUDT15 ITPA
2 nucleoside-triphosphate diphosphatase activity GO:0047429 8.96 NUDT15 ITPA
3 NADH pyrophosphatase activity GO:0035529 8.62 NUDT15 ITPA

Sources for Thiopurines, Poor Metabolism of, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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