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thiopurine S-methyltransferase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thiopurine S-methyltransferase deficiency

MONDO:0012503

Also known as:TPMT deficiencyinborn error of thiopurine S-methyltransferase activityinborn thiopurine S-methyltransferase activity disorder

Overview

An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.

GeneticsAutosomal recessive

ResearchLimited published research (8 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Abnormality of blood and blood-forming tissues and Abnormality of metabolism/homeostasis.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Abnormality of blood and blood-forming tissues
Metabolism

Diagnosis

Biomarker and diagnostic research for thiopurine S-methyltransferase deficiency has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for thiopurine S-methyltransferase deficiency.

8 publications have been identified in PubMed for thiopurine S-methyltransferase deficiency. Research spans Case Report / Case Series (50%), Epidemiology / Natural History (25%), and Diagnostic / Biomarker (13%).

Recent Publications

Morand S (2026). [PMID: 41782673](https://pubmed.ncbi.nlm.nih.gov/41782673/). *ACG case reports journal*. [Case Report / Case Series]
Bhatia P (2026). [PMID: 42189079](https://pubmed.ncbi.nlm.nih.gov/42189079/). *Br J Haematol*. [Epidemiology / Natural History]
Wu AS (2025). [PMID: 40099566](https://pubmed.ncbi.nlm.nih.gov/40099566/). *British journal of clinical pharmacology*. [Case Report / Case Series]
Wroński K (2025). [PMID: 40558232](https://pubmed.ncbi.nlm.nih.gov/40558232/). *Clinics and practice*. [Case Report / Case Series]
Maillard M (2025). [PMID: 39688234](https://pubmed.ncbi.nlm.nih.gov/39688234/). *Clinical pharmacology and therapeutics*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610460

Orphanet

European rare disease database

Orphanet:3315

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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thiopurine S-methyltransferase deficiency

Overview

Clinical Presentation

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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