Transcobalamin Ii Deficiency (TCN2 DEFICIENCY)

Transcobalamin Ii Deficiency(来自ICD-11)
别称:
Tcn2 Deficiency
Transcobalamin Deficiency
Tc Ii Deficiency
Inherited Deficiency of Transcobalamin
Tc Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Transcobalamin Ii Deficiency, also known as tcn2 deficiency, is related to pancytopenia and macrocytic anemia, and has symptoms including diarrhea, lethargy and vomiting. An important gene associated with Transcobalamin Ii Deficiency is TCN2 (Transcobalamin 2), and among its related pathways/superpathways are Infectious disease and Metabolism. Affiliated tissues include bone marrow and bone, and related phenotypes are abnormality of chromosome stability and methylmalonic aciduria
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基础信息

遗传方式
发病时间
患病率/发病率
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相关模型
参考文献
MALACARDS
AR
Newborn
<1/1000000
7
30
36

疾病表征

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基因 & 突变

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靶点药物

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疾病模型

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MGI
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文献报道

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