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Combined oxidative phosphorylation deficiency 22(COXPD22)

MedGen UID:
863499
Concept ID:
C4015062
Disease or Syndrome
Synonym: COXPD22
 
Gene (location): ATP5F1A (18q21.1)
 
Monarch Initiative: MONDO:0020727
OMIM®: 616045

Clinical features

From HPO
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
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.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
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.
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.
Depletion of mitochondrial DNA in muscle tissue
MedGen UID:
867163
Concept ID:
C4021521
Finding
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Hyper-beta-alaninemia
MedGen UID:
75702
Concept ID:
C0268630
Disease or Syndrome
An increased concentration of alanine in the blood.
Decreased activity of mitochondrial complex I
MedGen UID:
393796
Concept ID:
C2677650
Finding
A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.
Decreased activity of mitochondrial complex III
MedGen UID:
460434
Concept ID:
C3149083
Finding
A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.
Decreased activity of mitochondrial complex IV
MedGen UID:
866520
Concept ID:
C4020800
Finding
A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Yang RL, Qian GL, Wu DW, Miao JK, Yang X, Wu BQ, Yan YQ, Li HB, Mao XM, He J, Shen H, Zou H, Xue SY, Li XZ, Niu TT, Xiao R, Zhao ZY
World J Pediatr 2023 Jul;19(7):663-673. Epub 2023 Feb 27 doi: 10.1007/s12519-022-00670-x. PMID: 36847978Free PMC Article
Newman NJ, Yu-Wai-Man P, Biousse V, Carelli V
Lancet Neurol 2023 Feb;22(2):172-188. Epub 2022 Sep 22 doi: 10.1016/S1474-4422(22)00174-0. PMID: 36155660
Perini GF, Feres CCP, Teixeira LLC, Hamerschlak N
Curr Treat Options Oncol 2021 Jun 10;22(8):66. doi: 10.1007/s11864-021-00862-z. PMID: 34110507

Recent clinical studies

Etiology

Yang RL, Qian GL, Wu DW, Miao JK, Yang X, Wu BQ, Yan YQ, Li HB, Mao XM, He J, Shen H, Zou H, Xue SY, Li XZ, Niu TT, Xiao R, Zhao ZY
World J Pediatr 2023 Jul;19(7):663-673. Epub 2023 Feb 27 doi: 10.1007/s12519-022-00670-x. PMID: 36847978Free PMC Article
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S
J Inherit Metab Dis 2023 May;46(3):482-519. Epub 2022 Nov 17 doi: 10.1002/jimd.12566. PMID: 36221165
Zhao B, Dai T, Zhao D, Ma X, Zhao C, Li L, Sun Y, Zhang Y, Yan Y, Lu JQ, Liu F, Yan C
Neurol Neuroimmunol Neuroinflamm 2022 Jul;9(4) Epub 2022 May 17 doi: 10.1212/NXI.0000000000001184. PMID: 35581006Free PMC Article
Dabravolski SA, Nikiforov NG, Starodubova AV, Popkova TV, Orekhov AN
Int J Mol Sci 2021 Aug 16;22(16) doi: 10.3390/ijms22168770. PMID: 34445477Free PMC Article
Voet NB, van der Kooi EL, van Engelen BG, Geurts AC
Cochrane Database Syst Rev 2019 Dec 6;12(12):CD003907. doi: 10.1002/14651858.CD003907.pub5. PMID: 31808555Free PMC Article

Diagnosis

Yang RL, Qian GL, Wu DW, Miao JK, Yang X, Wu BQ, Yan YQ, Li HB, Mao XM, He J, Shen H, Zou H, Xue SY, Li XZ, Niu TT, Xiao R, Zhao ZY
World J Pediatr 2023 Jul;19(7):663-673. Epub 2023 Feb 27 doi: 10.1007/s12519-022-00670-x. PMID: 36847978Free PMC Article
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S
J Inherit Metab Dis 2023 May;46(3):482-519. Epub 2022 Nov 17 doi: 10.1002/jimd.12566. PMID: 36221165
Newman NJ, Yu-Wai-Man P, Biousse V, Carelli V
Lancet Neurol 2023 Feb;22(2):172-188. Epub 2022 Sep 22 doi: 10.1016/S1474-4422(22)00174-0. PMID: 36155660
Zhao B, Dai T, Zhao D, Ma X, Zhao C, Li L, Sun Y, Zhang Y, Yan Y, Lu JQ, Liu F, Yan C
Neurol Neuroimmunol Neuroinflamm 2022 Jul;9(4) Epub 2022 May 17 doi: 10.1212/NXI.0000000000001184. PMID: 35581006Free PMC Article
Voet NB, van der Kooi EL, van Engelen BG, Geurts AC
Cochrane Database Syst Rev 2019 Dec 6;12(12):CD003907. doi: 10.1002/14651858.CD003907.pub5. PMID: 31808555Free PMC Article

Therapy

Zhao B, Dai T, Zhao D, Ma X, Zhao C, Li L, Sun Y, Zhang Y, Yan Y, Lu JQ, Liu F, Yan C
Neurol Neuroimmunol Neuroinflamm 2022 Jul;9(4) Epub 2022 May 17 doi: 10.1212/NXI.0000000000001184. PMID: 35581006Free PMC Article
Soto-Sánchez J
Mini Rev Med Chem 2022;22(20):2661-2677. doi: 10.2174/1389557522666220404090429. PMID: 35379147
Chao CC, Gutiérrez-Vázquez C, Rothhammer V, Mayo L, Wheeler MA, Tjon EC, Zandee SEJ, Blain M, de Lima KA, Takenaka MC, Avila-Pacheco J, Hewson P, Liu L, Sanmarco LM, Borucki DM, Lipof GZ, Trauger SA, Clish CB, Antel JP, Prat A, Quintana FJ
Cell 2019 Dec 12;179(7):1483-1498.e22. Epub 2019 Dec 5 doi: 10.1016/j.cell.2019.11.016. PMID: 31813625Free PMC Article
Voet NB, van der Kooi EL, van Engelen BG, Geurts AC
Cochrane Database Syst Rev 2019 Dec 6;12(12):CD003907. doi: 10.1002/14651858.CD003907.pub5. PMID: 31808555Free PMC Article
Ashrafian H, Horowitz JD, Frenneaux MP
Cardiovasc Drug Rev 2007 Spring;25(1):76-97. doi: 10.1111/j.1527-3466.2007.00006.x. PMID: 17445089

Prognosis

Gevezova M, Kazakova M, Trenova A, Sarafian V
Int J Mol Sci 2023 Nov 14;24(22) doi: 10.3390/ijms242216297. PMID: 38003487Free PMC Article
Cheng J, Liu HP, Lin WY, Tsai FJ
Sci Rep 2021 Jul 1;11(1):13704. doi: 10.1038/s41598-021-93085-z. PMID: 34211065Free PMC Article
Perini GF, Feres CCP, Teixeira LLC, Hamerschlak N
Curr Treat Options Oncol 2021 Jun 10;22(8):66. doi: 10.1007/s11864-021-00862-z. PMID: 34110507
Mendham AE, Goedecke JH, Zeng Y, Larsen S, George C, Hauksson J, Fortuin-de Smidt MC, Chibalin AV, Olsson T, Chorell E
Diabetologia 2021 Jul;64(7):1642-1659. Epub 2021 Mar 26 doi: 10.1007/s00125-021-05430-6. PMID: 33770195Free PMC Article
Yang M, Bai YH, Wang JS, Jiang HY, Hu SL
Eur Rev Med Pharmacol Sci 2018 Jul;22(14):4598-4603. doi: 10.26355/eurrev_201807_15517. PMID: 30058698

Clinical prediction guides

Mao X, Lei H, Yi T, Su P, Tang S, Tong Y, Dong B, Ruan G, Mustea A, Sehouli J, Sun P
J Exp Clin Cancer Res 2022 Jan 19;41(1):28. doi: 10.1186/s13046-021-02211-2. PMID: 35045880Free PMC Article
Baide-Mairena H, Marti-Sánchez L, Marcé-Grau A, Cazurro-Gutiérrez A, Sanchez-Montanez A, Delgado I, Moreno-Galdó A, Macaya-Ruiz A, García-Arumí E, Pérez-Dueñas B; Childhood Basal Ganglia Disease Group
Dev Med Child Neurol 2022 Jun;64(6):743-752. Epub 2022 Jan 5 doi: 10.1111/dmcn.15125. PMID: 34988976
Perini GF, Feres CCP, Teixeira LLC, Hamerschlak N
Curr Treat Options Oncol 2021 Jun 10;22(8):66. doi: 10.1007/s11864-021-00862-z. PMID: 34110507
Rana P, Kogut S, Wen X, Akhlaghi F, Aleo MD
Chem Res Toxicol 2020 Jul 20;33(7):1780-1790. Epub 2020 May 8 doi: 10.1021/acs.chemrestox.0c00040. PMID: 32338883
Bross P, Magnoni R, Bie AS
Curr Top Med Chem 2012;12(22):2491-503. doi: 10.2174/1568026611212220005. PMID: 23339303

Recent systematic reviews

Zhang Q, Ouyang Q, Xiang J, Li H, Lv H, An Y
Genes (Basel) 2023 Feb 22;14(3) doi: 10.3390/genes14030552. PMID: 36980825Free PMC Article
Voet NB, van der Kooi EL, van Engelen BG, Geurts AC
Cochrane Database Syst Rev 2019 Dec 6;12(12):CD003907. doi: 10.1002/14651858.CD003907.pub5. PMID: 31808555Free PMC Article
Breil M, Chariot P
Muscle Nerve 1999 Dec;22(12):1631-6. doi: 10.1002/(sici)1097-4598(199912)22:12<1631::aid-mus3>3.0.co;2-v. PMID: 10567074

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