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 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 thiopurines, poor metabolism of, 2 12.5
2 thiopurines, poor metabolism of, 1 11.5
3 autoimmune hepatitis 10.3
4 hepatitis 10.3
5 lymphocytic leukemia 10.2
6 pancytopenia 10.2
7 leukemia, acute lymphoblastic 10.0
8 beta-thalassemia 10.0
9 acute lymphocytic leukemia 10.0
10 thalassemia 10.0
11 sclerosing cholangitis 10.0
12 cholangitis 10.0

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

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
Arrayed primer extension: a robust and reliable genotyping platform for the diagnosis of single gene disorders: beta-thalassemia and thiopurine methyltransferase deficiency. ( 16225400 )
2005
4
Severe pancytopenia from thiopurine methyltransferase deficiency: a preventable complication of 6-mercaptopurine therapy in children with Crohn disease. ( 12454589 )
2002
5
Severe 6-thioguanine-induced marrow aplasia in a child with acute lymphoblastic leukemia and inherited thiopurine methyltransferase deficiency. ( 11037857 )
2000
6
Pharmacokinetics, dose adjustments, and 6-mercaptopurine/methotrexate drug interactions in two patients with thiopurine methyltransferase deficiency. ( 9510461 )
1998
7
Thiopurine methyltransferase deficiency in childhood lymphoblastic leukaemia: 6-mercaptopurine dosage strategies. ( 9251729 )
1997
8
Azathioprine-induced myelosuppression due to thiopurine methyltransferase deficiency in a patient with autoimmune hepatitis. ( 8551001 )
1995
9
Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia. ( 8257179 )
1993

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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42 MedGen
44 MeSH
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46 MGI
49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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