Combined Oxidative Phosphorylation Deficiency 9 (COXPD9)

Alias:
Coxpd9
Combined Oxidative Phosphorylation Defect Type 9
Combined Oxidative Phosphorylation Deficiency, Type 9
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Combined Oxidative Phosphorylation Deficiency 9, also known as coxpd9, is related to cardiomyopathy, familial hypertrophic, 1 and combined oxidative phosphorylation deficiency, and has symptoms including dyspnea An important gene associated with Combined Oxidative Phosphorylation Deficiency 9 is MRPL3 (Mitochondrial Ribosomal Protein L3), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include liver, and related phenotypes are global developmental delay and hepatic steatosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
9
25
2

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
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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