Coenzyme Q10 deficiency, primary, 1 - NIH Genetic Testing Registry (GTR) (2025)

Table of Contents
Summary Available tests Clinical tests (69 available) Genes See tests for all associated and related genes COQ2 Clinical features Anemia Pancytopenia Decreased level of coenzyme Q10 in skeletal muscle Elevated circulating creatine kinase concentration Lactic acidosis Hypertrophic cardiomyopathy Dysphagia Episodic vomiting Liver failure Hypergonadotropic hypogonadism Nystagmus Rod-cone dystrophy Visual loss Focal segmental glomerulosclerosis Glomerular sclerosis Myoglobinuria, recurrent Nephrotic syndrome Proteinuria Hypotonia Progressive muscle weakness Ragged-red muscle fibers Cerebellar ataxia Cerebellar atrophy Diffuse cerebral atrophy Dysarthria Encephalopathy Global developmental delay Intellectual disability Loss of ambulation Motor delay Myoclonus Postural instability Right hemiplegia Scanning speech Seizure Specific learning disability Status epilepticus Tremor Fatigue Sensorineural hearing loss disorder Reviews Clinical resources Molecular resources Consumer resources References
Synonyms
APTX-Related Coenzyme Q10 Deficiency; COENZYME Q DEFICIENCY 1; COQ2-Related Coenzyme Q10 Deficiency; CoQ DEFICIENCY 1; UBIQUINONE DEFICIENCY 1

Summary

Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen. [from GeneReviews]

Available tests

69 tests are in the database for this condition.

Clinical tests (69 available)

Molecular Genetics Tests

  • Mutation scanning of select exons (1)
  • Deletion/duplication analysis (38)
  • Sequence analysis of the entire coding region (58)
  • Sequence analysis of select exons (2)
  • Targeted variant analysis (8)

Genes See tests for all associated and related genes

  • Associated genes Help

  • COQ2

    166 tests

    Also known as: CL640, COQ10D1, MSA1, PHB:PPT, COQ2
    Summary: coenzyme Q2, polyprenyltransferase

Clinical features

HelpList of clinical features of the condition/phenotype displayed from sources such as the Human Phenotype Ontology (HPO) and OMIM. For more information about the disease, please go to the disease information page.

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  • Abnormality of blood and blood-forming tissues
    • Anemia

      Anemia

      • MedGen UID: 1526
      • Concept ID: C0002871
      • Finding: Disease or Syndrome

      Abnormality of blood and blood-forming tissues

      See: Feature record | Search on this feature

    • Pancytopenia

      Pancytopenia

      • MedGen UID: 18281
      • Concept ID: C0030312
      • Finding: Disease or Syndrome

      Abnormality of blood and blood-forming tissues

      See: Feature record | Search on this feature

  • Abnormality of metabolism/homeostasis
  • Abnormality of the cardiovascular system
    • Hypertrophic cardiomyopathy

      Hypertrophic cardiomyopathy

      • MedGen UID: 2881
      • Concept ID: C0007194
      • Finding: Disease or Syndrome

      Abnormality of the cardiovascular system

      See: Feature record | Search on this feature

  • Abnormality of the digestive system
    • Dysphagia

      Dysphagia

      • MedGen UID: 41440
      • Concept ID: C0011168
      • Finding: Disease or Syndrome

      Abnormality of the digestive system

      See: Feature record | Search on this feature

    • Episodic vomiting

      Episodic vomiting

      • MedGen UID: 333228
      • Concept ID: C1838993
      • Finding: Finding

      Abnormality of the digestive system

      See: Feature record | Search on this feature

    • Liver failure

      Liver failure

      • MedGen UID: 88444
      • Concept ID: C0085605
      • Finding: Disease or Syndrome

      Abnormality of the digestive system

      See: Feature record | Search on this feature

  • Abnormality of the endocrine system
    • Hypergonadotropic hypogonadism

      Hypergonadotropic hypogonadism

      • MedGen UID: 184926
      • Concept ID: C0948896
      • Finding: Disease or Syndrome

      Abnormality of the endocrine system

      See: Feature record | Search on this feature

  • Abnormality of the eye
    • Nystagmus

      Nystagmus

      • MedGen UID: 45166
      • Concept ID: C0028738
      • Finding: Disease or Syndrome

      Abnormality of the eye

      See: Feature record | Search on this feature

    • Rod-cone dystrophy

      Rod-cone dystrophy

      • MedGen UID: 1632921
      • Concept ID: C4551714
      • Finding: Disease or Syndrome

      Abnormality of the eye

      See: Feature record | Search on this feature

    • Visual loss

      Visual loss

      • MedGen UID: 784038
      • Concept ID: C3665386
      • Finding: Finding

      Abnormality of the eye

      See: Feature record | Search on this feature

  • Abnormality of the genitourinary system
    • Focal segmental glomerulosclerosis

      Focal segmental glomerulosclerosis

      • MedGen UID: 4904
      • Concept ID: C0017668
      • Finding: Disease or Syndrome

      Abnormality of the genitourinary system

      See: Feature record | Search on this feature

    • Glomerular sclerosis

      Glomerular sclerosis

      • MedGen UID: 61248
      • Concept ID: C0178664
      • Finding: Disease or Syndrome

      Abnormality of the genitourinary system

      See: Feature record | Search on this feature

    • Myoglobinuria, recurrent

      Myoglobinuria, recurrent

      • MedGen UID: 333201
      • Concept ID: C1838877
      • Finding: Finding

      Abnormality of the genitourinary system

      See: Feature record | Search on this feature

    • Nephrotic syndrome

      Nephrotic syndrome

      • MedGen UID: 10308
      • Concept ID: C0027726
      • Finding: Disease or Syndrome

      Abnormality of the genitourinary system

      See: Feature record | Search on this feature

    • Proteinuria

      Proteinuria

      • MedGen UID: 10976
      • Concept ID: C0033687
      • Finding: Finding

      Abnormality of the genitourinary system

      See: Feature record | Search on this feature

  • Abnormality of the musculoskeletal system
    • Hypotonia

      Hypotonia

      • MedGen UID: 10133
      • Concept ID: C0026827
      • Finding: Finding

      Abnormality of the musculoskeletal system

      See: Feature record | Search on this feature

      See Also
      Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy
    • Progressive muscle weakness

      Progressive muscle weakness

      • MedGen UID: 68704
      • Concept ID: C0240421
      • Finding: Finding

      Abnormality of the musculoskeletal system

      See: Feature record | Search on this feature

    • Ragged-red muscle fibers

      Ragged-red muscle fibers

      • MedGen UID: 477048
      • Concept ID: C3275417
      • Finding: Finding

      Abnormality of the musculoskeletal system

      See: Feature record | Search on this feature

  • Abnormality of the nervous system
    • Cerebellar ataxia

      Cerebellar ataxia

      • MedGen UID: 849
      • Concept ID: C0007758
      • Finding: Disease or Syndrome

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Cerebellar atrophy

      Cerebellar atrophy

      • MedGen UID: 196624
      • Concept ID: C0740279
      • Finding: Disease or Syndrome

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Diffuse cerebral atrophy

      Diffuse cerebral atrophy

      • MedGen UID: 108958
      • Concept ID: C0598275
      • Finding: Finding

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Dysarthria

      Dysarthria

      • MedGen UID: 8510
      • Concept ID: C0013362
      • Finding: Mental or Behavioral Dysfunction

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Encephalopathy

      Encephalopathy

      • MedGen UID: 39314
      • Concept ID: C0085584
      • Finding: Disease or Syndrome

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Global developmental delay

      Global developmental delay

      • MedGen UID: 107838
      • Concept ID: C0557874
      • Finding: Finding

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Intellectual disability

      Intellectual disability

      • MedGen UID: 811461
      • Concept ID: C3714756
      • Finding: Mental or Behavioral Dysfunction

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Loss of ambulation

      Loss of ambulation

      • MedGen UID: 332305
      • Concept ID: C1836843
      • Finding: Finding

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Motor delay

      Motor delay

      • MedGen UID: 381392
      • Concept ID: C1854301
      • Finding: Finding

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Myoclonus

      Myoclonus

      • MedGen UID: 10234
      • Concept ID: C0027066
      • Finding: Finding

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Postural instability

      Postural instability

      • MedGen UID: 334529
      • Concept ID: C1843921
      • Finding: Finding

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Right hemiplegia

      Right hemiplegia

      • MedGen UID: 630097
      • Concept ID: C0457433
      • Finding: Finding

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Scanning speech

      Scanning speech

      • MedGen UID: 116113
      • Concept ID: C0240952
      • Finding: Mental or Behavioral Dysfunction

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Seizure

      Seizure

      • MedGen UID: 20693
      • Concept ID: C0036572
      • Finding: Sign or Symptom

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Specific learning disability

      Specific learning disability

      • MedGen UID: 871302
      • Concept ID: C4025790
      • Finding: Mental or Behavioral Dysfunction

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Status epilepticus

      Status epilepticus

      • MedGen UID: 11586
      • Concept ID: C0038220
      • Finding: Disease or Syndrome

      Abnormality of the nervous system

      See: Feature record | Search on this feature

    • Tremor

      Tremor

      • MedGen UID: 21635
      • Concept ID: C0040822
      • Finding: Sign or Symptom

      Abnormality of the nervous system

      See: Feature record | Search on this feature

  • Constitutional symptom
    • Fatigue

      Fatigue

      • MedGen UID: 41971
      • Concept ID: C0015672
      • Finding: Sign or Symptom

      Constitutional symptom

      See: Feature record | Search on this feature

  • Ear malformation
    • Sensorineural hearing loss disorder

      Sensorineural hearing loss disorder

      • MedGen UID: 9164
      • Concept ID: C0018784
      • Finding: Disease or Syndrome

      Ear malformation

      See: Feature record | Search on this feature

Reviews

  • GeneReviews
  • PubMed Clinical Queries
  • Reviews in PubMed

Clinical resources

Molecular resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Coenzyme Q10 deficiency, primary, 1 - NIH Genetic Testing Registry (GTR) (2025)

References

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