Tyrosinemia, Type Iii (TYRSN3)

Alias:
Tyrosinemia Type Iii
Tyrosinemia Due to 4-Hydroxyphenylpyruvate Dioxygenase Deficiency
Tyrosinemia Due to 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
4-Hydroxyphenylpyruvate Dioxygenase Deficiency
Tyrosinemia Due to Hpd Deficiency
Tyrosinemia Type 3
Tyrsn3
Tyrosinemia 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tyrosinemia, Type Iii, also known as tyrosinemia type iii, is related to tyrosinemia and hawkinsinuria, and has symptoms including seizures An important gene associated with Tyrosinemia, Type Iii is HPD (4-Hydroxyphenylpyruvate Dioxygenase), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. Affiliated tissues include liver and neutrophil, and related phenotypes are 4-hydroxyphenylpyruvic aciduria and 4-hydroxyphenylacetic aciduria
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
15
233
12

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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Status
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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