MCID: THP001
MIFTS: 15

Thiopurine S Methyltranferase Deficiency

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Thiopurine S Methyltranferase Deficiency

MalaCards integrated aliases for Thiopurine S Methyltranferase Deficiency:

Name: Thiopurine S Methyltranferase Deficiency 53 73
Thiopurine Methyltransferase Deficiency 53 29 6
6-Mercaptopurine Sensitivity 53 13
Thiopurines, Poor Metabolism of 53
Tpmt Deficiency 53

Classifications:



External Ids:

UMLS 73 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. An important gene associated with Thiopurine S Methyltranferase Deficiency is TPMT (Thiopurine S-Methyltransferase). Affiliated tissues include bone marrow and bone.

Related Diseases for Thiopurine S Methyltranferase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 thiopurines, poor metabolism of, 2 12.4
2 thiopurines, poor metabolism of, 1 11.3

Symptoms & Phenotypes for Thiopurine S Methyltranferase Deficiency

Drugs & Therapeutics for Thiopurine S Methyltranferase Deficiency

Search Clinical Trials , 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 Thiopurine Methyltransferase Deficiency 29 TPMT

Anatomical Context for Thiopurine S Methyltranferase Deficiency

MalaCards organs/tissues related to Thiopurine S Methyltranferase Deficiency:

41
Bone Marrow, Bone

Publications for Thiopurine S Methyltranferase Deficiency

Articles related to Thiopurine S Methyltranferase Deficiency:

# Title Authors Year
1
Autoimmune hepatitis with sclerosing cholangitis in a patient with thiopurine methyltransferase deficiency: case presentation. ( 28523321 )
2017
2
Thiopurine methyltransferase deficiency and azathioprine intolerance in autoimmune hepatitis. ( 16773433 )
2006
3
Severe pancytopenia from thiopurine methyltransferase deficiency: a preventable complication of 6-mercaptopurine therapy in children with Crohn disease. ( 12454589 )
2002
4
Severe 6-thioguanine-induced marrow aplasia in a child with acute lymphoblastic leukemia and inherited thiopurine methyltransferase deficiency. ( 11037857 )
2000
5
Pharmacokinetics, dose adjustments, and 6-mercaptopurine/methotrexate drug interactions in two patients with thiopurine methyltransferase deficiency. ( 9510461 )
1998
6
Thiopurine methyltransferase deficiency in childhood lymphoblastic leukaemia: 6-mercaptopurine dosage strategies. ( 9251729 )
1997
7
Azathioprine-induced myelosuppression due to thiopurine methyltransferase deficiency in a patient with autoimmune hepatitis. ( 8551001 )
1995
8
Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia. ( 8257179 )
1993
9
Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia. ( 1960624 )
1991

Variations for Thiopurine S Methyltranferase Deficiency

ClinVar genetic disease variations for Thiopurine S Methyltranferase Deficiency:

6
(show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPMT NM_000367.2(TPMT): c.238G> C (p.Ala80Pro) single nucleotide variant drug response rs1800462 GRCh37 Chromosome 6, 18143955: 18143955
2 TPMT NM_000367.2(TPMT): c.238G> C (p.Ala80Pro) single nucleotide variant drug response rs1800462 GRCh38 Chromosome 6, 18143724: 18143724
3 TPMT NM_000367.4(TPMT): c.626-1G> A single nucleotide variant drug response rs1800584 GRCh37 Chromosome 6, 18131012: 18131012
4 TPMT NM_000367.4(TPMT): c.626-1G> A single nucleotide variant drug response rs1800584 GRCh38 Chromosome 6, 18130781: 18130781
5 TPMT NM_000367.4(TPMT): c.644G> A (p.Arg215His) single nucleotide variant drug response rs56161402 GRCh37 Chromosome 6, 18130993: 18130993
6 TPMT NM_000367.4(TPMT): c.644G> A (p.Arg215His) single nucleotide variant drug response rs56161402 GRCh38 Chromosome 6, 18130762: 18130762
7 TPMT NM_000367.4(TPMT): c.500C> G (p.Ala167Gly) single nucleotide variant drug response rs74423290 GRCh37 Chromosome 6, 18134115: 18134115
8 TPMT NM_000367.4(TPMT): c.500C> G (p.Ala167Gly) single nucleotide variant drug response rs74423290 GRCh38 Chromosome 6, 18133884: 18133884
9 TPMT NM_000367.4(TPMT): c.*1873G> A single nucleotide variant Uncertain significance rs886061255 GRCh37 Chromosome 6, 18129026: 18129026
10 TPMT NM_000367.4(TPMT): c.*1873G> A single nucleotide variant Uncertain significance rs886061255 GRCh38 Chromosome 6, 18128795: 18128795
11 TPMT NM_000367.4(TPMT): c.*1804G> T single nucleotide variant Uncertain significance rs559243767 GRCh37 Chromosome 6, 18129095: 18129095
12 TPMT NM_000367.4(TPMT): c.*1804G> T single nucleotide variant Uncertain significance rs559243767 GRCh38 Chromosome 6, 18128864: 18128864
13 TPMT NM_000367.4(TPMT): c.*1778_*1781dupAAAA duplication Uncertain significance rs886061256 GRCh37 Chromosome 6, 18129118: 18129121
14 TPMT NM_000367.4(TPMT): c.*1778_*1781dupAAAA duplication Uncertain significance rs886061256 GRCh38 Chromosome 6, 18128887: 18128890
15 TPMT NM_000367.4(TPMT): c.*1757delC deletion Uncertain significance rs748123873 GRCh37 Chromosome 6, 18129142: 18129142
16 TPMT NM_000367.4(TPMT): c.*1757delC deletion Uncertain significance rs748123873 GRCh38 Chromosome 6, 18128911: 18128911
17 TPMT NM_000367.4(TPMT): c.*1522C> T single nucleotide variant Uncertain significance rs116170115 GRCh37 Chromosome 6, 18129377: 18129377
18 TPMT NM_000367.4(TPMT): c.*1522C> T single nucleotide variant Uncertain significance rs116170115 GRCh38 Chromosome 6, 18129146: 18129146
19 TPMT NM_000367.4(TPMT): c.*1204G> A single nucleotide variant Uncertain significance rs886061260 GRCh37 Chromosome 6, 18129695: 18129695
20 TPMT NM_000367.4(TPMT): c.*1204G> A single nucleotide variant Uncertain significance rs886061260 GRCh38 Chromosome 6, 18129464: 18129464
21 TPMT NM_000367.4(TPMT): c.*523G> A single nucleotide variant Uncertain significance rs886061261 GRCh37 Chromosome 6, 18130376: 18130376
22 TPMT NM_000367.4(TPMT): c.*523G> A single nucleotide variant Uncertain significance rs886061261 GRCh38 Chromosome 6, 18130145: 18130145
23 TPMT NM_000367.4(TPMT): c.*329A> G single nucleotide variant Uncertain significance rs886061263 GRCh37 Chromosome 6, 18130570: 18130570
24 TPMT NM_000367.4(TPMT): c.*329A> G single nucleotide variant Uncertain significance rs886061263 GRCh38 Chromosome 6, 18130339: 18130339
25 TPMT NM_000367.4(TPMT): c.375G> A (p.Ser125=) single nucleotide variant Uncertain significance rs760980416 GRCh38 Chromosome 6, 18139709: 18139709
26 TPMT NM_000367.4(TPMT): c.375G> A (p.Ser125=) single nucleotide variant Uncertain significance rs760980416 GRCh37 Chromosome 6, 18139940: 18139940
27 TPMT NM_000367.4(TPMT): c.-44-4G> A single nucleotide variant Uncertain significance rs202034437 GRCh37 Chromosome 6, 18149406: 18149406
28 TPMT NM_000367.4(TPMT): c.-44-4G> A single nucleotide variant Uncertain significance rs202034437 GRCh38 Chromosome 6, 18149175: 18149175
29 TPMT NM_000367.4(TPMT): c.-66C> T single nucleotide variant Uncertain significance rs141028204 GRCh37 Chromosome 6, 18155285: 18155285
30 TPMT NM_000367.4(TPMT): c.-66C> T single nucleotide variant Uncertain significance rs141028204 GRCh38 Chromosome 6, 18155054: 18155054
31 TPMT NM_000367.4(TPMT): c.*1900A> C single nucleotide variant Likely benign rs1142378 GRCh37 Chromosome 6, 18128999: 18128999
32 TPMT NM_000367.4(TPMT): c.*1900A> C single nucleotide variant Likely benign rs1142378 GRCh38 Chromosome 6, 18128768: 18128768
33 TPMT NM_000367.4(TPMT): c.*1820A> G single nucleotide variant Uncertain significance rs1142374 GRCh37 Chromosome 6, 18129079: 18129079
34 TPMT NM_000367.4(TPMT): c.*1820A> G single nucleotide variant Uncertain significance rs1142374 GRCh38 Chromosome 6, 18128848: 18128848
35 TPMT NM_000367.4(TPMT): c.*1604G> A single nucleotide variant Likely benign rs9465100 GRCh37 Chromosome 6, 18129295: 18129295
36 TPMT NM_000367.4(TPMT): c.*1604G> A single nucleotide variant Likely benign rs9465100 GRCh38 Chromosome 6, 18129064: 18129064
37 TPMT NM_000367.4(TPMT): c.*1511G> A single nucleotide variant Uncertain significance rs553500255 GRCh37 Chromosome 6, 18129388: 18129388
38 TPMT NM_000367.4(TPMT): c.*1511G> A single nucleotide variant Uncertain significance rs553500255 GRCh38 Chromosome 6, 18129157: 18129157
39 TPMT NM_000367.4(TPMT): c.*1305C> G single nucleotide variant Uncertain significance rs144017186 GRCh37 Chromosome 6, 18129594: 18129594
40 TPMT NM_000367.4(TPMT): c.*1305C> G single nucleotide variant Uncertain significance rs144017186 GRCh38 Chromosome 6, 18129363: 18129363
41 TPMT NM_000367.4(TPMT): c.*1218G> A single nucleotide variant Uncertain significance rs186206580 GRCh37 Chromosome 6, 18129681: 18129681
42 TPMT NM_000367.4(TPMT): c.*1218G> A single nucleotide variant Uncertain significance rs186206580 GRCh38 Chromosome 6, 18129450: 18129450
43 TPMT NM_000367.4(TPMT): c.*634dupT duplication Uncertain significance rs760084154 GRCh37 Chromosome 6, 18130265: 18130265
44 TPMT NM_000367.4(TPMT): c.*634dupT duplication Uncertain significance rs760084154 GRCh38 Chromosome 6, 18130034: 18130034
45 TPMT NM_000367.4(TPMT): c.*515G> A single nucleotide variant Uncertain significance rs145605593 GRCh37 Chromosome 6, 18130384: 18130384
46 TPMT NM_000367.4(TPMT): c.*515G> A single nucleotide variant Uncertain significance rs145605593 GRCh38 Chromosome 6, 18130153: 18130153
47 TPMT NM_000367.4(TPMT): c.*60T> C single nucleotide variant Uncertain significance rs886061264 GRCh37 Chromosome 6, 18130839: 18130839
48 TPMT NM_000367.4(TPMT): c.*60T> C single nucleotide variant Uncertain significance rs886061264 GRCh38 Chromosome 6, 18130608: 18130608
49 TPMT NM_000367.4(TPMT): c.474T= (p.Ile158=) single nucleotide variant Likely benign rs2842934 GRCh38 Chromosome 6, 18138983: 18138983
50 TPMT NM_000367.4(TPMT): c.474T= (p.Ile158=) single nucleotide variant Likely benign rs2842934 GRCh37 Chromosome 6, 18139214: 18139214

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

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