Triosephosphate Isomerase Deficiency (TPID)

Alias:
Triose Phosphate-Isomerase Deficiency
Triose Phosphate Isomerase Deficiency
Tpid
Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency
Hereditary Nonspherocytic Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency
Deficiency of Phosphotriose Isomerase
Tpi Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Triosephosphate Isomerase Deficiency, also known as triose phosphate-isomerase deficiency, is related to hemolytic anemia and congenital nonspherocytic hemolytic anemia, and has symptoms including icterus, muscle spasticity and tremor. An important gene associated with Triosephosphate Isomerase Deficiency is TPI1 (Triosephosphate Isomerase 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include spinal cord and heart, and related phenotypes are hypotonia and skeletal muscle atrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
9
46
35

Medical Symptom

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Description
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
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References Literature

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