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Term:
thiopurine S-methyltransferase deficiency (DOID:0080172)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
abacavir allergy  
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
Adenosine Monophosphate Deaminase Deficiency +   
adenylosuccinase lyase deficiency  
alcuronium bromide allergy 
Alpha-Fetoprotein Deficiency  
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Amobarbital, Deficient N-Hydroxylation of 
amodiaquine allergy 
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
Aryl Hydrocarbon Hydroxylase Inducibility 
aspirin allergy 
Aspirin-Induced Asthma +   
beta-lactam allergy +  
Beta-Ureidopropionase Deficiency  
bilirubin metabolic disorder +   
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
carbamazepine allergy 
carbapenem allergy 
carbohydrate metabolic disorder +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Carnitine Acetyltransferase Deficiency  
cephalosporin allergy +  
CHITOTRIOSIDASE DEFICIENCY  
chlorhexidine allergy 
Chromate Resistance 
co-trimoxazole allergy 
Combined Exocrine Pancreatic Insufficiency 
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
congenital leptin deficiency  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
corticosteroid allergy 
Coumarin Resistance  
Coumarin Sensitivity  
cyclophosphamide allergy 
cytochrome-c oxidase deficiency disease +   
D-mannitol allergy 
Deafness Hyperuricemia Neurologic Ataxia 
Defect in Hyaluronan Metabolism 
Deoxyribose-5-Phosphate Aldolase Deficiency 
diclofenac allergy 
dihydropyrimidine dehydrogenase deficiency +   
Diphenylhydantoin, Defect in Hydroxylation of 
disodium cromoglycate allergy 
dopamine beta-hydroxylase deficiency  
Drug Eruptions +   
Efavirenz, Poor Metabolism of  
enterokinase deficiency  
Ethanolaminosis 
Familial Amyloidosis +   
familial erythrocytosis 8  
FUCOSYLTRANSFERASE 6 DEFICIENCY  
gallamine allergy 
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
glycerol kinase deficiency  
Glycoprotein Storage Disease 
Glyoxalase II Deficiency 
Gordon Holmes syndrome  
gout +   
Greenberg dysplasia  
Growth Factors, Combined Defect of 
Hereditary Hyperbilirubinemia +   
Hypercalcemia, Infantile, 1  
Hypercatabolic Hypoproteinemia  
Hypoadiponectinemia  
Hypokalemia, Familial 
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Inosine Triphosphatase Deficiency  
Intrinsic Factor and R Binder, Combined Congenital Deficiency of 
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
isoniazide allergy 
Kallikrein, Decreased Urinary Activity of  
ketoprofen photoallergic dermatitis 
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
Lesch-Nyhan syndrome +   
LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE  
Leukotriene C4 Synthase Deficiency  
lidocaine allergy 
lipid metabolism disorder +   
lysosomal storage disease +   
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
melphalan allergy 
mepivacaine allergy 
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
Methylmalonyl-Coenzyme A Mutase Deficiency 
mitochondrial complex II deficiency  
mitochondrial metabolism disease +   
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
Monocarboxylate Transporter 1 Deficiency  
Myeloperoxidase Deficiency  
N Acetyltransferase Deficiency +   
neomycin sulfate allergic contact dermatitis 
Nonfunctional L-Gulonolactone Oxidase 
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
orotic aciduria  
Orotic Aciduria II  
overhydrated hereditary stomatocytosis  
oxirane allergy 
patent blue V allergy 
peroxisomal disease +   
Phenacetin O-Deethylase, Deficiency of  
phenobarbital allergy 
Phenol Sulfotransferase Deficiency 
phenytoin allergy 
Phosphoglycerate Kinase 1 Deficiency  
Phosphohydroxylysinuria  
Phosphoribosylpyrophosphate Synthetase Deficiency 
phosphoribosylpyrophosphate synthetase superactivity  
phthalyl group allergy 
plasma protein metabolism disease +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
porphyria +   
progeria +   
Proguanil, Poor Metabolism of  
Pseudouridinuria and Mental Defect 
purine nucleoside phosphorylase deficiency  
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
quinidine allergy 
ranitidine allergy 
renal tubular transport disease +   
Retinol-Binding Protein Deficiency 
rocuronium allergy 
SEDOHEPTULOKINASE DEFICIENCY  
sepiapterin reductase deficiency  
sodium aurothiomalate allergy 
Squalene Synthase Deficiency  
steroid inherited metabolic disorder +   
Stomatocytosis II  
Succinic Acidemia 
succinylcholine allergy 
sulfamethoxazole allergy 
sulfasalazine allergy 
sulfonamide allergy 
suprofen allergy 
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
thiopental allergy 
thiopurine S-methyltransferase deficiency +   
An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. (DO)
Thyrotropin-Releasing Hormone Deficiency  
Transcobalamin I Deficiency  
trimethoprim allergy 
trimethylaminuria  
Trypsinogen Deficiency  
tubocurarine allergy 
Uridine-Cytidineuria  
vitamin metabolic disorder +   
Warfarin Sensitivity  
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
xanthinuria +   

Synonyms
Exact Synonyms: 6 alpha mercaptopurine sensitivity ;   TPMT deficiency ;   TPMTD ;   poor metabolism of thiopurines ;   poor metabolism of thiopurines-1 ;   thiopurine methyltransferase deficiency
Related Synonyms: azathioprine intolerance
Primary IDs: MESH:C536512
Xrefs: OMIM:PS610460
Definition Sources: https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency#statistics

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.