Combined Oxidative Phosphorylation Deficiency 14 (COXPD14)

Alias:
Coxpd14
Combined Oxidative Phosphorylation Defect Type 14
Oxidative Phosphorylation Deficiency, Combined, Type 14
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Combined Oxidative Phosphorylation Deficiency 14, also known as coxpd14, is related to mitochondrial dna depletion syndrome 4a and combined oxidative phosphorylation deficiency, and has symptoms including myoclonus An important gene associated with Combined Oxidative Phosphorylation Deficiency 14 is FARS2 (Phenylalanyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include brain and bone marrow, and related phenotypes are hearing impairment and visual impairment
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
3
26

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
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Phase
No data available

Disease Model

Category
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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