U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome(COQ10D5)

MedGen UID:
766288
Concept ID:
C3553374
Disease or Syndrome
Synonyms: Coenzyme Q10 deficiency, primary, 5; COQ9-Related Coenzyme Q10 Deficiency
 
Gene (location): COQ9 (16q21)
 
Monarch Initiative: MONDO:0013840
OMIM®: 614654
Orphanet: ORPHA319678

Authors:
Leonardo Salviati  |  Eva Trevisson  |  Caterina Agosto, et. al.   view full author information

Additional description

From GeneReviews Overview
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.

Clinical features

From HPO
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Encephalopathy
MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Secondary microcephaly
MedGen UID:
608952
Concept ID:
C0431352
Finding
Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Lactic acidosis
MedGen UID:
1717
Concept ID:
C0001125
Disease or Syndrome
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Hypothermia
MedGen UID:
5720
Concept ID:
C0020672
Finding
Reduced body temperature due to failed thermoregulation.
Hyper-beta-alaninemia
MedGen UID:
75702
Concept ID:
C0268630
Disease or Syndrome
An increased concentration of alanine in the blood.
Increased circulating lactate concentration
MedGen UID:
332209
Concept ID:
C1836440
Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Decreased level of coenzyme Q10 in skeletal muscle
MedGen UID:
764872
Concept ID:
C3551958
Finding
Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue.
Weak cry
MedGen UID:
65892
Concept ID:
C0234860
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEncephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Follow this link to review classifications for Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome in Orphanet.

Professional guidelines

PubMed

Flamm SL, Wong F, Ahn J, Kamath PS
Clin Gastroenterol Hepatol 2022 Dec;20(12):2707-2716. Epub 2022 Sep 6 doi: 10.1016/j.cgh.2022.08.033. PMID: 36075500
Hasan I, Rashid T, Chirila RM, Ghali P, Wadei HM
Rom J Intern Med 2021 Sep 1;59(3):227-261. Epub 2021 Aug 26 doi: 10.2478/rjim-2021-0006. PMID: 33544554
Cavanaugh C, Perazella MA
Am J Kidney Dis 2019 Feb;73(2):258-272. Epub 2018 Sep 21 doi: 10.1053/j.ajkd.2018.07.012. PMID: 30249419

Recent clinical studies

Etiology

Claudio P, Gabriella M
J Nephrol 2023 Nov;36(8):2179-2190. Epub 2023 Jul 19 doi: 10.1007/s40620-023-01697-7. PMID: 37466816
Hogan JJ, Alexander MP, Leung N
Am J Kidney Dis 2019 Dec;74(6):822-836. Epub 2019 Jul 19 doi: 10.1053/j.ajkd.2019.04.029. PMID: 31331759
Rosenberg AZ, Kopp JB
Clin J Am Soc Nephrol 2017 Mar 7;12(3):502-517. Epub 2017 Feb 27 doi: 10.2215/CJN.05960616. PMID: 28242845Free PMC Article
Hruska KA, Sugatani T, Agapova O, Fang Y
Bone 2017 Jul;100:80-86. Epub 2017 Jan 22 doi: 10.1016/j.bone.2017.01.023. PMID: 28119179Free PMC Article
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188

Diagnosis

Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC
World J Pediatr 2023 Jul;19(7):619-634. Epub 2023 Feb 2 doi: 10.1007/s12519-023-00685-y. PMID: 36729281
Husain-Syed F, Gröne HJ, Assmus B, Bauer P, Gall H, Seeger W, Ghofrani A, Ronco C, Birk HW
ESC Heart Fail 2021 Feb;8(1):183-203. Epub 2020 Nov 30 doi: 10.1002/ehf2.13118. PMID: 33258308Free PMC Article
Hogan JJ, Alexander MP, Leung N
Am J Kidney Dis 2019 Dec;74(6):822-836. Epub 2019 Jul 19 doi: 10.1053/j.ajkd.2019.04.029. PMID: 31331759
Cavanaugh C, Perazella MA
Am J Kidney Dis 2019 Feb;73(2):258-272. Epub 2018 Sep 21 doi: 10.1053/j.ajkd.2018.07.012. PMID: 30249419
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188

Therapy

Uppal NN, Workeneh BT, Rondon-Berrios H, Jhaveri KD
Clin J Am Soc Nephrol 2022 Jun;17(6):922-933. Epub 2022 Jan 21 doi: 10.2215/CJN.14671121. PMID: 35063968Free PMC Article
Costanzo MR
Heart Fail Clin 2020 Jan;16(1):81-97. doi: 10.1016/j.hfc.2019.08.010. PMID: 31735318
Hogan JJ, Alexander MP, Leung N
Am J Kidney Dis 2019 Dec;74(6):822-836. Epub 2019 Jul 19 doi: 10.1053/j.ajkd.2019.04.029. PMID: 31331759
Rosenberg AZ, Kopp JB
Clin J Am Soc Nephrol 2017 Mar 7;12(3):502-517. Epub 2017 Feb 27 doi: 10.2215/CJN.05960616. PMID: 28242845Free PMC Article
Hoorn EJ, Ellison DH
Am J Kidney Dis 2017 Jan;69(1):136-142. Epub 2016 Nov 1 doi: 10.1053/j.ajkd.2016.08.027. PMID: 27814935Free PMC Article

Prognosis

Hasan I, Rashid T, Chirila RM, Ghali P, Wadei HM
Rom J Intern Med 2021 Sep 1;59(3):227-261. Epub 2021 Aug 26 doi: 10.2478/rjim-2021-0006. PMID: 33544554
Francoz C, Durand F, Kahn JA, Genyk YS, Nadim MK
Clin J Am Soc Nephrol 2019 May 7;14(5):774-781. Epub 2019 Apr 17 doi: 10.2215/CJN.12451018. PMID: 30996046Free PMC Article
Cavanaugh C, Perazella MA
Am J Kidney Dis 2019 Feb;73(2):258-272. Epub 2018 Sep 21 doi: 10.1053/j.ajkd.2018.07.012. PMID: 30249419
Rosenberg AZ, Kopp JB
Clin J Am Soc Nephrol 2017 Mar 7;12(3):502-517. Epub 2017 Feb 27 doi: 10.2215/CJN.05960616. PMID: 28242845Free PMC Article
François H, Mariette X
Nat Rev Nephrol 2016 Feb;12(2):82-93. Epub 2015 Nov 16 doi: 10.1038/nrneph.2015.174. PMID: 26568188

Clinical prediction guides

Singal AK, Ong S, Satapathy SK, Kamath PS, Wiesner RH
Transpl Int 2019 Apr;32(4):343-352. Epub 2019 Feb 21 doi: 10.1111/tri.13388. PMID: 30548094
Grande D, Gioia MI, Terlizzese P, Iacoviello M
Adv Exp Med Biol 2018;1067:219-238. doi: 10.1007/5584_2017_126. PMID: 29159789
Gubler MC
Pediatr Nephrol 2014 Jan;29(1):51-9. Epub 2013 May 1 doi: 10.1007/s00467-013-2480-1. PMID: 23636579
Salomon R, Saunier S, Niaudet P
Pediatr Nephrol 2009 Dec;24(12):2333-44. Epub 2008 Jul 8 doi: 10.1007/s00467-008-0840-z. PMID: 18607645Free PMC Article
Plouin PF, Perdu J, La Batide-Alanore A, Boutouyrie P, Gimenez-Roqueplo AP, Jeunemaitre X
Orphanet J Rare Dis 2007 Jun 7;2:28. doi: 10.1186/1750-1172-2-28. PMID: 17555581Free PMC Article

Recent systematic reviews

Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF
J Am Soc Nephrol 2023 Nov 1;34(11):1875-1888. Epub 2023 Sep 6 doi: 10.1681/ASN.0000000000000224. PMID: 37678265Free PMC Article
Domingues V, Chock EY, Dufrost V, Risse J, Seshan SV, Barbhaiya M, Sartelet H, Erkan D, Wahl D, Zuily S
Autoimmun Rev 2022 Oct;21(10):103158. Epub 2022 Jul 28 doi: 10.1016/j.autrev.2022.103158. PMID: 35907609
Gomes AM, Lopes D, Almeida C, Santos S, Malheiro J, Lousa I, Caldas Afonso A, Beirão I
Int J Mol Sci 2022 Jun 30;23(13) doi: 10.3390/ijms23137276. PMID: 35806283Free PMC Article
Signorelli GC, Bianchetti MG, Jermini LMM, Agostoni C, Milani GP, Simonetti GD, Lava SAG
Nutrients 2020 Nov 9;12(11) doi: 10.3390/nu12113436. PMID: 33182508Free PMC Article
Ramos-Casals M, Brito-Zerón P, Seror R, Bootsma H, Bowman SJ, Dörner T, Gottenberg JE, Mariette X, Theander E, Bombardieri S, De Vita S, Mandl T, Ng WF, Kruize A, Tzioufas A, Vitali C; EULAR Sjögren Syndrome Task Force
Rheumatology (Oxford) 2015 Dec;54(12):2230-8. Epub 2015 Jul 31 doi: 10.1093/rheumatology/kev200. PMID: 26231345Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...