Clinical manifestations of primary CoQ deficiencies

Primary coenzyme Q (CoQ) deficiencies are clinically heterogeneous and currently lack a clear genotype-phenotype correlation. As a result, most cases are not diagnosed or are diagnosed too late. To help guide diagnosis and early treatment, here we analyse the associations between clinical manifestations (symptoms) and the different COQ genes that are reported in the literature.

In the tabs above you can search the frequency of clinical manifestations grouped by system (Central Nervous System, Peripheral Nervous System and sensory organs, Kidney, Heart, Muscle, Lung, Liver, Other) and for each COQ gene.

Go to Table to search the data by involved system, specific manifestation or COQ gene.

This tool is part of the review PRIMARY COENZYME Q DEFICIENCIES: A LITERATURE REVIEW AND ONLINE PLATFORM OF CLINICAL FEATURES TO UNCOVER GENOTYPE-PHENOTYPE CORRELATIONS, María Alcázar-Fabra, Francisco Rodríguez-Sánchez, Eva Trevisson & Gloria Brea-Calvo (2021), which you can read here.

Last update: 2021-03-21