COQ2 gene related symptoms and diseases

All the information presented here about the COQ2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, 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 COQ2 gene

Symptoms // Phenotype	% Cases
Abnormal pyramidal sign	Common - Between 50% and 80% cases
Postural instability	Common - Between 50% and 80% cases
Dysarthria	Common - Between 50% and 80% cases
Progressive cerebellar ataxia	Common - Between 50% and 80% cases
Abnormal rapid eye movement sleep	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with COQ2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Constipation
Central sleep apnea
Abnormal brain FDG positron emission tomography
Orthostatic hypotension due to autonomic dysfunction
Orofacial dyskinesia
Stridor
Parkinsonism
Postural tremor

And 129 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to COQ2 gene

Here you will find a list of rare diseases related to the COQ2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Alternate names

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1, coq10 deficiency, primary, 1, coq deficiency 1, coenzyme q deficiency 1

Description

Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

Most common symptoms of COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

SOURCES: OMIM ORPHANET

MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1

Alternate names

MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 Is also known as msa1, susceptibility to

Description

Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions (GCIs) that consist of abnormally phosphorylated alpha-synuclein (SNCA ) or tau (MAPT ) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by The Multiple-System Atrophy Research Collaboration, 2013).MSA is similar clinically and pathologically to Parkinson disease (PD ) and Lewy body dementia (OMIM ). See also PARK1 (OMIM ), which is specifically caused by mutation in the SNCA gene.Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996).

Most common symptoms of MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1

Ataxia
Ptosis
Cognitive impairment
Hyperreflexia
Dysarthria

More info about MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1

SOURCES: MESH ORPHANET OMIM

MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE

Alternate names

MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE Is also known as msa-p, msa, parkinsonian type

Description

Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).

Most common symptoms of MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE

Dysarthria
Depressivity
Constipation
Gait ataxia
Rigidity

More info about MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE

SOURCES: ORPHANET

MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE

Alternate names

MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE Is also known as sporadic olivopontocerebellar atrophy type 1, msa, cerebellar type, sporadic opca type 1, msa-c

Description

Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).

Most common symptoms of MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE

Dysarthria
Depressivity
Constipation
Gait ataxia
Rigidity

More info about MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE

SOURCES: ORPHANET

LEIGH SYNDROME WITH NEPHROTIC SYNDROME

Alternate names

LEIGH SYNDROME WITH NEPHROTIC SYNDROME Is also known as infantile subacute necrotizing encephalopathy with nephrotic syndrome, leigh disease with nephrotic syndrome

Description

A rare, genetic neurometabolic disease characterized by encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral, symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome.

More info about LEIGH SYNDROME WITH NEPHROTIC SYNDROME

SOURCES: ORPHANET

Search interest in COQ2

Potential gene panels for COQ2 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

COQ2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to COQ2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to COQ2 gene

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Alternate names

Description

Most common symptoms of COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1

Alternate names

Description

Most common symptoms of MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1

MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE

Alternate names

Description

Most common symptoms of MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE

MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE

Alternate names

Description

Most common symptoms of MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE

LEIGH SYNDROME WITH NEPHROTIC SYNDROME

Alternate names

Description

Search interest in COQ2

Potential gene panels for COQ2 gene

MitoMet®Plus aCGH Analysis Panel

COQ2 Sequence Analysis (Prenatal Diagnosis) Panel

COQ2 Sequence Analysis Panel

COQ2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

COQ2 Deletion/Duplication Analysis Panel

Comprehensive Mitochondrial Metabolic 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

Coenzyme Q10 deficiency, primary, 1 (sequence analysis of COQ2 gene) Panel

Coenzyme Q10 deficiency (NGS panel for 8 genes) Panel

Coenzyme Q10 deficiency (deletion/duplication analysis on COQ2 gene) Panel

Coenzyme Q10 deficiency (deletion/duplication analysis on COQ2 gene) Panel

Coenzyme Q10 deficiency 1 Panel

Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ2 Gene Sequencing with CNV Detection Panel

Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel

Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection Panel

Leukodystrophy and Leukoencephalopathy 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

Nephrotic syndrome and related disorders Comprehensive panel Panel

Nephrotic syndrome and related disorders NGS panel Panel

Nephrotic syndrome and related disorders Deletion / Duplication panel Panel

Coenzyme Q10 deficiency Panel

Hypertrophic cardiomyopathy - different panels Panel

Mental retardation - different panels Panel

Hereditary kidney disorders - different panels Panel

CoQ10 Deficiency Panel

COQ2-Related Coenzyme Q10 Deficiency Panel

Nephrology Endocrinology and Electrolytes - panels Panel

Neurogenetic Disorders - panels Panel

Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic Panel

Mitochondrial Diseases Panel

Mitochondrial Encephalopathy Panel

Comprehensive mitochondrial disorders panel Panel

Coenzyme Q10 deficiency type 1 Panel

Coenzyme Q10 deficiency type 1 Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Coenzyme Q Deficiency Panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Ataxia and differential diagnoses Panel Panel

Coenzyme Q Deficiency Panel Panel

Nephrotic Syndrome Panel Panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Skeletal Myopathy Panel Panel

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Cardiomyopathies Panel Panel

Hypertrophic Cardiomyopathy Extended Panel Panel

Cardiovascular Diseases_General Panel Panel

Skeletal myopathy Panel Panel

Dyslipidemias / Early atherosclerosis Panel