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encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

MONDO:0013840

Also known as:coenzyme Q10 deficiency, primary, type 5COQ10D5coenzyme Q10 deficiency, primary, 5

Overview

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.

GeneticsAutosomal recessive · COQ9 (chr 16)

OnsetNEONATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Encephalopathy, Hypertonia, Brain shrinkage (cerebral atrophy), and Hypothermia and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Encephalopathy, Brain shrinkage (cerebral atrophy), Dystonia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

COQ9 encodes coenzyme Q9 (318 aa). Membrane-associated protein that warps the membrane surface to access and bind aromatic isoprenes with high specificity, including ubiquinone (CoQ) isoprene intermediates and presents them directly to COQ7, therefore facilitating the COQ7-mediated hydroxylase step. Highest expression in Muscle Skeletal (123.5 TPM) and Heart Left Ventricle (121.2 TPM).

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is associated with mutations in the COQ9 gene on chromosome 16.

The COQ9 protein participates in COQ7:COQ9 octamer, COQ7:COQ9 octamer hydroxylates DMQ10H2, and COQ3 methylates DeMQ10H2 pathways.

COQ9 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for COQ9 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome.

212 publications have been identified in PubMed for encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome. Kisho has analyzed 152 by research type. Research spans Basic Science / Preclinical (42%), Review / Meta-Analysis (26%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Laboratory research	64

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 4:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614654

Orphanet

European rare disease database

Orphanet:319678

GARD

Genetic and Rare Diseases Info Center

GARD:17470

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications