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Ontology Browser

Term:
triosephosphate isomerase deficiency (DOID:0050884)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Adenosine Triphosphatase Deficiency, Anemia Due To 
childhood onset GLUT1 deficiency syndrome 2  
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 
congenital disorder of glycosylation +   
Congenital Lactase Deficiency  
D-Glycericacidemia  
diabetes mellitus +   
favism  
Fructose and Galactose Intolerance 
Fructose Metabolism, Inborn Errors +   
fructose-1,6-bisphosphatase deficiency +   
fucosidosis  
galactosemia +   
Glucose-Galactose Malabsorption  
glucosephosphate dehydrogenase deficiency +   
GLUT1 Deficiency Syndrome  
Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency 
glycerol kinase deficiency  
glycogen metabolism disorder +   
glycogen storage disease +   
glycoproteinosis +   
Glycosuria +   
hyperglycemia +   
hyperinsulinemic hypoglycemia +   
hyperinsulinism +   
Hyperproglucagonemia 
hypoglycemia +   
Hypoinsulinemia  
intestinal disaccharidase deficiency 
Lactate Dehydrogenase Deficiency 
lactose intolerance +   
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
Mannosidase Deficiency Diseases +   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM +   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
mucopolysaccharidosis +   
multiple carboxylase deficiency +   
Myopathy with Storage of Glycoproteins and Glycosaminoglycans 
NGLY1-deficiency  
Nonspherocytic Hemolytic Anemia, associated with Abnormality of Red Cell Membrane 
Nonspherocytic Hemolytic Anemia, possibly due to Defect in Porphyrin Metabolism 
Ogden syndrome  
pentosuria  
PHGDH deficiency  
Phosphoenolpyruvate Carboxykinase Deficiency +   
primary hyperoxaluria +   
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
pyruvate kinase deficiency of red cells  
Pyruvate Metabolism, Inborn Errors +   
Ribose 5-Phosphate Isomerase Deficiency  
Storage of Unusual Polysaccharide 
Sucrase-Isomaltase Deficiency, Congenital  
Transaldolase Deficiency  
Trehalase Deficiency  
triosephosphate isomerase deficiency  
A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. (DO)
Xylosidase Deficiency 

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