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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Drug Hypersensitivity (D004342)
Parent Node: Purine-Pyrimidine Metabolism, Inborn Errors (D011686)
..Starting node ..Thiopurine S methyltranferase deficiency (C536512)
Child Nodes:
Sister Nodes:
..Adenosine monophosphate deaminase deficiency (C538234)
..Adenylosuccinate lyase deficiency (C538235)
..Beta-Ureidopropionase Deficiency (C563210)
..Dihydropyrimidine Dehydrogenase Deficiency (D054067) 1
..Gout (D006073) 6
..Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase (C565489)
..Lesch-Nyhan Syndrome (D007926) 1
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Orotic Aciduria II (C562589)
..Oroticaciduria 1 (C537136)
..Phosphoribosylpyrophosphate synthetase deficiency (C537897)
..Phosphoribosylpyrophosphate Synthetase Superactivity (C567064)
..Pseudouridinuria and Mental Defect (C564864)
..Purine Nucleoside Phosphorylase Deficiency (C562587)
..Thiopurine S methyltranferase deficiency (C536512)
..Xanthinuria, Type II (C566358)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10968

Name:

Thiopurine S methyltranferase deficiency

Definition:

Alternative IDs:

OMIM:610460

ParentIDs:

MESH:D004342|MESH:D011686

TreeNumbers:

C16.320.565.798/C536512 |C18.452.648.798/C536512 |C20.543.206/C536512 |C25.100.468/C536512

Synonyms:

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

Slim Mappings:

Genetic disease (inborn)|Immune system disease|Metabolic disease

Reference:

MedGen: C536512
MeSH: C536512
OMIM: 610460;

Genes: TPMT;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001871	Abnormality of blood and blood-forming tissues
3	HP:0001939	Abnormality of metabolism/homeostasis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000367.3(TPMT):c.719A>G (p.Tyr240Cys)	7172	TPMT	drug response	1142345	RCV000013559; RCV000013562; RCV000030658;	Y	MedGen:C0342801,OMIM:610460,ORPHA:3315,SNOMED CT:238012003	6	18130918	18130918	NM_000367.3:c.719A>G	NP_000358.1:p.Tyr240Cys	NC_000006.11:g.18130918T>C	OMIM Allelic Variant:187680.0002,OMIM Allelic Variant:187680.0005	C0342801 610460 Thiopurine methyltransferase deficiency
NM_000367.3(TPMT):c.719A>G (p.Tyr240Cys)	7172	TPMT	drug response	1142345	RCV000013559; RCV000013562; RCV000030658;	Y	MedGen:C0342801,OMIM:610460,ORPHA:3315,SNOMED CT:238012003	6	18130918	18130918	NM_000367.3:c.719A>G	NP_000358.1:p.Tyr240Cys	NC_000006.11:g.18130918T>C	OMIM Allelic Variant:187680.0002,OMIM Allelic Variant:187680.0005	C0342801 610460 Thiopurine methyltransferase deficiency
NM_000367.3(TPMT):c.644G>A (p.Arg215His)	7172	TPMT	drug response	56161402	RCV000013563;	N	MedGen:C0342801,OMIM:610460,ORPHA:3315,SNOMED CT:238012003	6	18130993	18130993	NM_000367.3:c.644G>A	NP_000358.1:p.Arg215His	NC_000006.11:g.18130993C>T	OMIM Allelic Variant:187680.0006	C0342801 610460 Thiopurine methyltransferase deficiency
NG_012137.2:g.29363G>A	7172	TPMT	drug response	1800584	RCV000013560;	N	MedGen:C0342801,OMIM:610460,ORPHA:3315,SNOMED CT:238012003	6	18131012	18131012	NM_000367.3:c.626-1G>A		NC_000006.11:g.18131012C>T	OMIM Allelic Variant:187680.0003	C0342801 610460 Thiopurine methyltransferase deficiency
NM_000367.3(TPMT):c.500C>G (p.Ala167Gly)	7172	TPMT	drug response	74423290	RCV000013564;	N	MedGen:C0342801,OMIM:610460,ORPHA:3315,SNOMED CT:238012003	6	18134115	18134115	NM_000367.3:c.500C>G	NP_000358.1:p.Ala167Gly	NC_000006.11:g.18134115G>C	OMIM Allelic Variant:187680.0007	C0342801 610460 Thiopurine methyltransferase deficiency
NM_000367.3(TPMT):c.460G>A (p.Ala154Thr)	7172	TPMT	drug response	1800460	RCV000013559; RCV000013561; RCV000030657;	Y	MedGen:C0342801,OMIM:610460,ORPHA:3315,SNOMED CT:238012003	6	18139228	18139228	NM_000367.3:c.460G>A	NP_000358.1:p.Ala154Thr	NC_000006.11:g.18139228C>T	OMIM Allelic Variant:187680.0002,OMIM Allelic Variant:187680.0004	C0342801 610460 Thiopurine methyltransferase deficiency
NM_000367.3(TPMT):c.460G>A (p.Ala154Thr)	7172	TPMT	drug response	1800460	RCV000013559; RCV000013561; RCV000030657;	Y	MedGen:C0342801,OMIM:610460,ORPHA:3315,SNOMED CT:238012003	6	18139228	18139228	NM_000367.3:c.460G>A	NP_000358.1:p.Ala154Thr	NC_000006.11:g.18139228C>T	OMIM Allelic Variant:187680.0002,OMIM Allelic Variant:187680.0004	C0342801 610460 Thiopurine methyltransferase deficiency
NM_000367.2(TPMT):c.238G>C (p.Ala80Pro)	7172	TPMT	drug response	1800462	RCV000013558; RCV000030656;	Y	MedGen:C0342801,OMIM:610460,ORPHA:3315,SNOMED CT:238012003	6	18143955	18143955	NM_000367.3:c.238G>C	NP_000358.1:p.Ala80Pro	NC_000006.11:g.18143955C>G	OMIM Allelic Variant:187680.0001	C0342801 610460 Thiopurine methyltransferase deficiency