COQ4 gene related symptoms and diseases

All the information presented here about the COQ4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COQ4 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Hypertrophic cardiomyopathy Very Common - Between 80% and 100% cases
Astrocytosis Very Common - Between 80% and 100% cases
Motor deterioration Very Common - Between 80% and 100% cases
Hypoplastic left heart Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with COQ4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Neonatal respiratory distress
  • Abnormality of mitochondrial metabolism
  • Bradycardia
  • Neuronal loss in central nervous system
  • Epileptic encephalopathy
  • Increased serum lactate
  • Polyneuropathy
  • Lactic acidosis

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to COQ4 gene

Here you will find a list of rare diseases related to the COQ4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME


Alternate names

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Description

Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

Most common symptoms of NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for COQ4 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection that also includes the following genes: APTX COQ8A PDSS1 COQ8B COQ4 COQ6 PDSS2 COQ2 COQ9 ETFA

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

COQ4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COQ4 gene.

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Coenzyme q10 Deficiency Panel Panel

Finland.

By Blueprint Genetics Coenzyme q10 Deficiency Panel that also includes the following genes: APTX COQ8A PDSS1 COQ4 COQ6 SLC25A26 COQ7 PDSS2 COQ2 COQ9

More info about this panel

Coenzyme Q10 Deficiency , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Coenzyme Q10 Deficiency , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: APTX COQ8A PDSS1 COQ4 COQ6 PDSS2 COQ2 COQ9 ANO10 ETFA

More info about this panel

Primary Coenzyme Q10 Deficiency: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Coenzyme Q10 Deficiency: gene sequencing panel that also includes the following genes: COQ8A PDSS1 COQ4 COQ6 COQ7 PDSS2 COQ2 COQ9

More info about this panel


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