/thiopurine S-methyltransferase deficiency

thiopurine S-methyltransferase deficiency

Rare Disease

MONDO:0012503

Also Known As

TPMT deficiencyinborn error of thiopurine S-methyltransferase activityinborn thiopurine S-methyltransferase activity disorderpoor metabolism of thiopurines-1rare inborn error of thiopurine S-methyltransferase activitythiopurine S-methyltransferase deficiency6-mercaptopurine sensitivityTHPM1Thiopurines, poor metabolism ofThiopurines, poor metabolism of, 1thiopurine S methyltranferase deficiencythiopurine methyltransferase deficiencythiopurines, poor metabolism of, 1

Definition

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

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External Resources

OMIM

OMIM:610460 ↗

Orphanet

Orphanet:3315 ↗

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