Thiopurines, poor metabolism of, 1

Preferred Label : Thiopurines, poor metabolism of, 1;

Symbol : THPM1;

CISMeF acronym : THPM1; TPMTD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : TPMTD; Thiopurine s-methyltransferase deficiency; Tpmt deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thiopurine S-methyltransferase gene (TPMT, 187680.0001);

Laboratory abnormalities : Decreased activity of thiopurine S-methyltransferase; Decreased metabolism of thiopurine drugs; Increased toxic thioguanine nucleotides (TGNs) on standard doses of thiopurine drugs;

Prefixed ID : #610460;

Details

Origin ID

610460;

UMLS CUI

C0342801;

Automatic exact mappings (from CISMeF team)
- Thiopurine S-methyltransferase deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- 6 alpha mercaptopurine sensitivity [MeSH concept]
- Thiopurine Methyltransferase Deficiency [NCIt concept]
- Thiopurine S methyltranferase deficiency [MeSH concept]
- Thiopurine S-methyltransferase deficiency [ORDO Disease]
- Thiopurine methyltransferase deficiency (disorder) [Inactive SNOMED CT concept]
- thiopurine S methyltranferase deficiency [MeSH Supplementary Concept]
- thiopurine S-methyltransferase deficiency [DO Concept]
- thiopurine methyltransferase deficiency [Disease (Nov.)]
DO Cross reference
- thiopurine S-methyltransferase deficiency [DO Concept]
Genes related to phenotype
- Thiopurine s-methyltransferase [OMIM gene]
HPO term(s)
- Abnormality of blood and blood-forming tissues [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
ORDO concept(s)
- Thiopurine S-methyltransferase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thiopurine Methyltransferase Deficiency [NCIt concept]
- Thiopurine S methyltranferase deficiency [MeSH concept]
- Thiopurine S-methyltransferase deficiency [ORDO Disease]
- Thiopurine methyltransferase deficiency (disorder) [Inactive SNOMED CT concept]
- thiopurine S methyltranferase deficiency [MeSH Supplementary Concept]
- thiopurine S-methyltransferase deficiency [DO Concept]
- thiopurine methyltransferase deficiency [Disease (Nov.)]

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