Disease #02946

Official abbreviation TPMT
Name thiopurine S-methyltransferase deficiency (TPMT)
OMIM ID 610460
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 95
Phenotype entries for this disease 95
Associated with 1 gene TPMT
Associated tissues -
Disease features -
Remarks -


Individuals

95 entries on 1 page. Showing entries 1 - 95.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

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Owner     
00025516 - PubMed: Lennard 2013 - - ? (United Kingdom (Great Britain)) - - 0 - - TPMT reduced TPMT activity TPMT TPMT 1 1 Johan den Dunnen
00025517 - PubMed: Lennard 2013 - - ? (United Kingdom (Great Britain)) - - 0 - - TPMT reduced TPMT activity TPMT TPMT 1 1 Johan den Dunnen
00025518 - PubMed: Lennard 2013 - - ? (United Kingdom (Great Britain)) - - 0 - - TPMT reduced TPMT activity TPMT TPMT 1 1 Johan den Dunnen
00025519 - PubMed: Roberts 2014 2-generation family, father/son M ? New Zealand - - 0 - - TPMT see paper; intermediate RBC TPMT activity TPMT TPMT 8 2 Johan den Dunnen
00025520 - PubMed: Evans 1991 2-generation family, 1 affected - no United States - - 0 - - TPMT severe hematologic toxicity after oral mercaptopurine therapy for acute lymphoblastic leukemia TPMT TPMT 1 1 Johan den Dunnen
00025521 - - 2-generation family, 1 affected, unaffected carrier parents - - United States Caucasian - 0 - - TPMT - TPMT TPMT 3 1 Johan den Dunnen
00025523 - - from 283 controls analysed - - United States - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025524 - - from 283 controls analysed - - United States - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025525 - - from 283 controls analysed - - United States - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 3 1 Johan den Dunnen
00025526 - - from 21 controls analysed - - Korea - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025527 - - from 283 controls analysed - - United States - - 0 - - TPMT - TPMT TPMT 3 1 Johan den Dunnen
00025528 - - 3-generation family, 3 affecteds - - United States Caucasian - 0 - - TPMT - TPMT TPMT 3 2 Johan den Dunnen
00025530 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025531 - - test of 248 African-American indidivuals - - United States African American - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 12 Johan den Dunnen
00025532 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025533 - - - - - Spain - - 0 - - TPMT - TPMT TPMT 3 1 Johan den Dunnen
00025534 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025535 - - 2-generation family, 1 affected, carrier parents reduced TPMT activity - - Sweden - - 0 - - TPMT - TPMT TPMT 3 1 Johan den Dunnen
00025536 - - 2-generation family, 1 affected, carrier parents reduced TPMT activity - - Sweden - - 0 - - TPMT - TPMT TPMT 3 1 Johan den Dunnen
00025541 - - - - - Morocco - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025542 - - - - - Germany - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025543 - - - - - Germany - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025544 - - - - - Germany - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025547 - - 2 affected sisters - - Sweden - - 0 - - TPMT - TPMT TPMT 3 2 Johan den Dunnen
00025548 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025549 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025550 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025551 - - 2-generation family, carrier father/2 siblings - - China - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 3 Johan den Dunnen
00025552 - - - - - Iran - - 0 - - TPMT - TPMT TPMT 4 1 Johan den Dunnen
00025553 - - - - - Thailand - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025554 - - 2-generation family, 1 affected, reduced TPMT activity carrier parents - - France Caucasian - 0 - - TPMT - TPMT TPMT 3 1 Johan den Dunnen
00025555 - - - - - Sweden Italian - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025556 - - - - - United Kingdom (Great Britain) - - 0 - - TPMT - TPMT TPMT 3 1 Johan den Dunnen
00025565 - - 1 affected - - Poland - - 0 - - TPMT - TPMT TPMT 3 1 Johan den Dunnen
00025566 - - 1 affected - - Germany - - 0 - - TPMT - TPMT TPMT 4 1 Johan den Dunnen
00025567 - - - - - France - - 0 - - TPMT - TPMT TPMT 4 1 Johan den Dunnen
00025568 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 2 2 Johan den Dunnen
00025570 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025572 - - - - - France - - 0 - - TPMT - TPMT TPMT 2 1 Johan den Dunnen
00025573 - - - - - France - - 0 - - TPMT - TPMT TPMT 3 1 Johan den Dunnen
00025574 - - - - - France - - 0 - - TPMT - TPMT TPMT 4 1 Johan den Dunnen
00025575 - - - - - France - - 0 - - TPMT - TPMT TPMT 3 1 Johan den Dunnen
00025576 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 2 5 Johan den Dunnen
00025577 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025578 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025581 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025582 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025583 - - - - - Germany - - 0 - - TPMT - TPMT TPMT 4 5 Johan den Dunnen
00025584 - - - - - Germany - - 0 - - TPMT - TPMT TPMT 3 2 Johan den Dunnen
00025585 - - 111 cases in 1214 individuals - - Germany - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 2 1 Johan den Dunnen
00025586 - - 111 cases in 1214 individuals - - Germany - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025587 - - 111 cases in 1214 individuals - - Germany - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025593 - - - - - France - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025594 - - suspected TPMT carriers - no United States Caucasian - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 2 17 Johan den Dunnen
00025595 - PubMed: McLeod 1993 1 affected - - United States Caucasian - 0 - - TPMT - TPMT TPMT 4 1 Johan den Dunnen
00025596 - - 3 carriers with intermediate TPMT activity - - - Caucasian - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 2 3 Johan den Dunnen
00025603 - - analysis 6 cases - - United States Caucasian - 0 - - TPMT - TPMT TPMT 4 3 Johan den Dunnen
00025604 - - analysis 6 cases - - United States Caucasian - 0 - - TPMT - TPMT TPMT 3 1 Johan den Dunnen
00025605 - - analysis 6 cases - - United States Caucasian - 0 - - TPMT - TPMT TPMT 2 1 Johan den Dunnen
00025606 - - analysis 6 cases - - United States Caucasian - 0 - - TPMT - TPMT TPMT 3 1 Johan den Dunnen
00025608 - - analysis 21 ALL patients - - United States Caucasian - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 2 18 Johan den Dunnen
00025609 - - analysis 21 ALL patients - - United States Caucasian - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025610 - - analysis 21 ALL patients - - United States Caucasian - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025611 - - test of 248 African-American indidivuals - - United States African American - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 12 Johan den Dunnen
00025612 - - test of 248 African-American indidivuals - - United States African American - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 2 Johan den Dunnen
00025613 - - test of 248 African-American indidivuals - - United States African American - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 2 4 Johan den Dunnen
00025614 - - from 283 controls analysed - - United States - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 2 16 Johan den Dunnen
00025615 - - from 283 controls analysed - - United States - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 3 Johan den Dunnen
00025616 - - from 283 controls analysed - - United States - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 2 Johan den Dunnen
00025617 - - from 283 controls analysed - - United States - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025618 - - from 283 controls analysed - - United States - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025619 - - From 25 controls analysed - - Norway - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 2 4 Johan den Dunnen
00025620 - - From 25 controls analysed - - Norway - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025621 - - from 283 controls analysed - - United States - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025622 - - from 283 controls analysed - - United States - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025623 - - from 21 controls analysed - - Korea - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 4 Johan den Dunnen
00025624 - - from 21 controls analysed - - Korea - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025625 - - from 21 controls analysed - - Korea - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025626 - - from 21 controls analysed - - Korea - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025627 - - from 21 controls analysed - - Korea - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025628 - - from 21 controls analysed - - Korea - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025629 - - from 21 controls analysed - - Korea - - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 1 Johan den Dunnen
00025630 - - 3-generation family, 3 unaffected carriers - - United States Caucasian - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 1 3 Johan den Dunnen
00025631 - - 3-generation family, 3 unaffected carriers - - United States Caucasian - 0 - - TPMT TPMT deficiency reduced TPMT TPMT 2 3 Johan den Dunnen
00025632 - - - - - United States Caucasian - 0 - - TPMT - TPMT TPMT 4 1 Johan den Dunnen
00025633 - - - - - United States Caucasian - 0 - - TPMT - TPMT TPMT 4 1 Johan den Dunnen
00025634 - - 4 patients - - - Caucasian - 0 - - TPMT - TPMT TPMT 4 4 Johan den Dunnen
00025635 - PubMed: Lee 2012 - M no China - - 0 - - TPMT recurrent pompholyx (hands/feet), diabetes, hypertension TPMT TPMT 1 1 Johan den Dunnen
00025907 - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - 0 - - TPMT reduced TPMT activity TPMT TPMT 1 1 Johan den Dunnen
00025908 - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - 0 - - TPMT reduced TPMT activity TPMT TPMT 1 1 Johan den Dunnen
00025909 - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - 0 - - TPMT reduced TPMT activity TPMT TPMT 2 100 Johan den Dunnen
00025910 - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - 0 - - TPMT reduced TPMT activity TPMT TPMT 1 17 Johan den Dunnen
00025911 - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - 0 - - TPMT reduced TPMT activity TPMT TPMT 1 4 Johan den Dunnen
00025912 - PubMed: Lennard 2013 - - - (United Kingdom (Great Britain)) - - 0 - - TPMT reduced TPMT activity TPMT TPMT 2 1 Johan den Dunnen
00025914 - PubMed: Lennard 2013 - - - United Kingdom (Great Britain) white - 0 - - TPMT reduced TPMT activity TPMT TPMT 3 1 Johan den Dunnen
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