Tyrosinemia

Alias:
Hypertyrosinemia
Tyrosinemias
Hereditary Hypertyrosinemia
Hereditary Tyrosinemia
Hypertyrosinaemia
Tyrosinaemia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tyrosinemia, also known as hypertyrosinemia, is related to tyrosinemia, type ii and tyrosinemia, type iii. An important gene associated with Tyrosinemia is HPD (4-Hydroxyphenylpyruvate Dioxygenase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Nitisinone and Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related phenotypes are Reduced mammosphere formation and homeostasis/metabolism
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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24
337
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Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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