Trmu Deficiency

Alias:
Trmu-Related Reversible Infantile Respiratory Chain Deficiency
Trmu-Related Reversible Infantile Liver Failure
Trmu-Related Mitochondrial Hepatopathy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Trmu Deficiency, also known as trmu-related reversible infantile respiratory chain deficiency, is related to liver failure, infantile, transient and acute infantile liver failure due to synthesis defect of mtdna-encoded proteins. An important gene associated with Trmu Deficiency is TRMU (TRNA Mitochondrial 2-Thiouridylase). Affiliated tissues include liver.
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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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1
5
17

Medical Symptom

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Categorization
Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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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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PMID
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IF
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