Triosephosphate Isomerase Deficiency (TPID)

Triosephosphate Isomerase Deficiency(来自ICD-11)
别称:
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
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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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参考文献
MALACARDS
AR
Newborn
<1/1000000
9
46
35

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