Details of Disease

General Information of Disease (ID: DIS7ZKT7)

• Disease Name: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
• Synonyms: COQ10D5; coenzyme Q10 deficiency, primary, 5; coenzyme Q10 deficiency, primary, type 5
• Definition: 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.
• Disease Hierarchy:
  DIS1HGDF: Coenzyme Q10 deficiency
  DIS7ZKT7: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013840
  UMLS CUI: C3553374
  OMIM ID: 614654
  MedGen ID: 766288
  Orphanet ID: 319678

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COQ9	OTM2T1FI	Strong	Autosomal recessive	[1]

References

• [1] A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet. 2009 May;84(5):558-66. doi: 10.1016/j.ajhg.2009.03.018. Epub 2009 Apr 16.