Thiopurine S methyltranferase deficiency

A hereditary autosomal recessive condition that results in an increased sensitivity to 6-MERCAPTOPURINE due to mutations in thiopurine methyltransferase (TPMT gene) causing decreased enzyme activity. OMIM: 187680

Also Known As:

6 alpha mercaptopurine sensitivity; TPMT deficiency; Thiopurine S-Methyltransferase Deficiency; Thiopurine methyltransferase deficiency; Thiopurines, poor metabolism of

Chemically-Induced Disorders: 2
- Drug-Related Side Effects and Adverse Reactions: 13596
  - Drug Hypersensitivity: 1536
    - Thiopurine S methyltranferase deficiency: 63
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Purine-Pyrimidine Metabolism
      - Thiopurine S methyltranferase deficiency: 63
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Purine-Pyrimidine Metabolism
      - Thiopurine S methyltranferase deficiency: 63

M M Reid Selected Research

M M Reid Research Topics

Disease

Drug/Important Bio-Agent (IBA)

Therapy/Procedure