COQ8A gene related symptoms and diseases

All the information presented here about the COQ8A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to COQ8A gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Brisk reflexes	Very Common - Between 80% and 100% cases
Lactic acidosis	Very Common - Between 80% and 100% cases
Progressive cerebellar ataxia	Very Common - Between 80% and 100% cases
Increased serum lactate	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with COQ8A gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Gynecomastia
EMG abnormality
Exercise intolerance
Neurodevelopmental delay
Abnormal pyramidal sign
Axonal degeneration
Central hypotonia
Increased CSF lactate

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to COQ8A gene

Here you will find a list of rare diseases related to the COQ8A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Alternate names

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2, autosomal recessive cerebellar ataxia type 2, spinocerebellar ataxia, autosomal recessive 9, scar9, autosomal recessive ataxia due to coenzyme q10 deficiency, autosomal recessive spinocerebellar ataxia type 9

Description

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

Most common symptoms of AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

SOURCES: MESH OMIM ORPHANET

Search interest in COQ8A

Potential gene panels for COQ8A gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

COQ8A gene related symptoms and diseases

Top 5 symptoms and clinical features associated to COQ8A gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to COQ8A gene

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Search interest in COQ8A

Potential gene panels for COQ8A gene

MitoMet®Plus aCGH Analysis Panel

CABC1 Deletion/Duplication Analysis Panel

CABC1 (ADCK3) Sequence Analysis (Prenatal Diagnosis) Panel

CABC1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

CABC1 (ADCK3) Sequence Analysis Panel

Ataxia, Supplemental Recessive Evaluation Panel

Ataxia, Complete Recessive Evaluation Panel

Ataxia, Comprehensive Evaluation Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Dystonia Exome Panel Panel

Ataxia Exome Panel Panel

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel

ADCK3. Complete sequencing Panel

Hereditary ataxias (NGS panel for 44 genes) Panel

Coenzyme Q10 deficiency (NGS panel for 8 genes) Panel

Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection Panel

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel

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

Mental retardation - different panels Panel

CoQ10 Deficiency Panel

Mitochondrial Ataxia Panel

COQ8A/ADCK3-Related Coenzyme Q10 Deficiency Panel

Vascular and connective tissue diseases - panels Panel

Neurogenetic Disorders - panels Panel

Ataxia Panel

Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic Panel

Mitochondrial Diseases Panel

Mitochondrial Encephalopathy Panel

Spinocerebellar ataxia type 9 Panel

Spinocerebellar ataxia type 9 Panel

AllNeuro panel Panel

Coenzyme Q Deficiency Panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Ataxia and differential diagnoses Panel Panel

Coenzyme Q Deficiency Panel Panel

Single gene testing ADCK3 Panel

Ataxia, autosomal recessive and X-linked Panel Panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Spinocerebellar Ataxia Panel

CABC1-Related Coenzyme Q10 Deficiency Panel

Spinocerebellar ataxia type 9, Autosomal recessive: CABC1 (ADCK3) gene sequence analysis Panel

Spinocerebellar ataxia Panel

Ataxia Panel

Hereditary Neuropathies: Sequencing Panel Panel

Hereditary Neuropathies: Deletion/Duplication Panel Panel

Epilepsy NGS Panel Panel

Lactic Acidosis-Pyruvate NGS Panel Panel

ADCK3 Panel

Comprehensive Epilepsy NGS Panel Panel

Ataxia Panel Panel

Comprehensive Metabolism Panel Panel

Coenzyme q10 Deficiency Panel Panel

Metabolic Myopathy and Rhabdomyolysis Panel Panel

Coenzyme Q10 deficiency, primary, 4 Panel

UBIQUINONE DEFICIENCY WITH CEREBELLAR ATAXIA Panel

SPINOCEREBELLAR ATAXIA NGS PANEL Panel

Primary Coenzyme Q10 Deficiency Type 4 , Sequencing COQ8A Gene Panel

Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel

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

Primary Coenzyme Q10 Deficiency: gene sequencing panel Panel