Phosphoenolpyruvate Carboxykinase Deficiency

Alias:
Phosphoenolpyruvate Carboxykinase Deficiency
Pepck Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Phosphoenolpyruvate Carboxykinase Deficiency, also known as phosphoenolpyruvate carboxykinase deficiency, is related to hypoglycemia and lactic acidosis, and has symptoms including cyanosis and seizures. An important gene associated with Phosphoenolpyruvate Carboxykinase Deficiency is PCK1 (Phosphoenolpyruvate Carboxykinase 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Glycosaminoglycan metabolism. Affiliated tissues include liver, and related phenotype is Negative genetic interaction between PTTG1-/- and PTTG1+/+.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
2
14
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Medical Symptom

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Description
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No data available

Gene & Mutation

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Disease Model

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MGI
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References Literature

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