Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis (COXPD)

Alias:
Combined Oxidative Phosphorylation Defect
Combined Oxphos Deficiency
Combined Oxphos Defect
Coxpd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis, also known as combined oxidative phosphorylation defect, is related to combined oxidative phosphorylation deficiency 21 and combined oxidative phosphorylation deficiency 24. Affiliated tissues include heart and brain.
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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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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
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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