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Combined oxidative phosphorylation deficiency 43(COXPD43)

MedGen UID:
1718250
Concept ID:
C5394284
Disease or Syndrome
Synonyms: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
 
Gene (location): TIMM22 (17p13.3)
 
Monarch Initiative: MONDO:0030017
OMIM®: 618851

Clinical features

From HPO
Acetabular dysplasia
MedGen UID:
233069
Concept ID:
C1328407
Anatomical Abnormality
A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.
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.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Projectile vomiting
MedGen UID:
67442
Concept ID:
C0221151
Sign or Symptom
Vomiting that ejects the gastric contents with great force.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
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.

Professional guidelines

PubMed

Elmansy MF, Reidl CT, Rahaman M, Özdinler PH, Silverman RB
Med Res Rev 2023 Nov;43(6):2260-2302. Epub 2023 May 26 doi: 10.1002/med.21974. PMID: 37243319Free PMC Article
Esmaeili Y, Yarjanli Z, Pakniya F, Bidram E, Łos MJ, Eshraghi M, Klionsky DJ, Ghavami S, Zarrabi A
J Control Release 2022 May;345:147-175. Epub 2022 Mar 3 doi: 10.1016/j.jconrel.2022.03.001. PMID: 35248646
Trumbeckaite S, Cesna V, Jasukaitiene A, Baniene R, Gulbinas A
J Bioenerg Biomembr 2018 Oct;50(5):329-338. Epub 2018 Jun 25 doi: 10.1007/s10863-018-9764-x. PMID: 29943164

Recent clinical studies

Etiology

Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ
Am J Hum Genet 2023 Jan 5;110(1):105-119. Epub 2022 Dec 8 doi: 10.1016/j.ajhg.2022.11.015. PMID: 36493768Free PMC Article
Kirola L, Mukherjee A, Mutsuddi M
Mol Neurobiol 2022 Sep;59(9):5673-5694. Epub 2022 Jun 30 doi: 10.1007/s12035-022-02934-z. PMID: 35768750
Wilund KR, Thompson S, Viana JL, Wang AY
Contrib Nephrol 2021;199:43-55. Epub 2021 Aug 3 doi: 10.1159/000517696. PMID: 34343989
Shurtleff H, Barry D, Chanprasert S, Firman T, Warner M, Saneto RP
Epilepsy Behav 2018 Nov;88:235-243. Epub 2018 Oct 11 doi: 10.1016/j.yebeh.2018.09.013. PMID: 30316150
Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM
Ann Neurol 2018 Jan;83(1):115-130. doi: 10.1002/ana.25127. PMID: 29283441Free PMC Article

Diagnosis

Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ
Am J Hum Genet 2023 Jan 5;110(1):105-119. Epub 2022 Dec 8 doi: 10.1016/j.ajhg.2022.11.015. PMID: 36493768Free PMC Article
Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Aref-Eshghi E, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky RD, Muraresku CC, Peterson JT, Spinner NB, Wallace DC, Dulik MC, Falk MJ
Mol Genet Metab 2022 Jan;135(1):93-101. Epub 2021 Dec 18 doi: 10.1016/j.ymgme.2021.12.006. PMID: 34969639Free PMC Article
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R
J Inherit Metab Dis 2020 Mar;43(2):297-308. Epub 2019 Aug 13 doi: 10.1002/jimd.12156. PMID: 31339582Free PMC Article
Shurtleff H, Barry D, Chanprasert S, Firman T, Warner M, Saneto RP
Epilepsy Behav 2018 Nov;88:235-243. Epub 2018 Oct 11 doi: 10.1016/j.yebeh.2018.09.013. PMID: 30316150
Toman J, Fiskum G
J Bioenerg Biomembr 2011 Feb;43(1):3-10. doi: 10.1007/s10863-011-9337-8. PMID: 21311961Free PMC Article

Therapy

Boock V, Roy B, Pfeffer G, Kimonis V
Curr Opin Neurol 2023 Oct 1;36(5):432-440. Epub 2023 Aug 30 doi: 10.1097/WCO.0000000000001184. PMID: 37678339
Biousse V, Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Esposti S, La Morgia C, Priglinger C, Karanja R, Blouin L, Taiel M, Sahel JA; LHON Study Group
J Neuroophthalmol 2021 Sep 1;41(3):309-315. doi: 10.1097/WNO.0000000000001367. PMID: 34415265Free PMC Article
Watanabe T, Fujiwara Y, Chan FKL
J Gastroenterol 2020 May;55(5):481-495. Epub 2019 Dec 21 doi: 10.1007/s00535-019-01657-8. PMID: 31865463Free PMC Article
Trumbeckaite S, Cesna V, Jasukaitiene A, Baniene R, Gulbinas A
J Bioenerg Biomembr 2018 Oct;50(5):329-338. Epub 2018 Jun 25 doi: 10.1007/s10863-018-9764-x. PMID: 29943164
Dobler R, Dowling DK, Morrow EH, Reinhardt K
Hum Reprod Update 2018 Sep 1;24(5):519-534. doi: 10.1093/humupd/dmy018. PMID: 29757366

Prognosis

Dishnica K, Piubelli C, Manfredi M, Kondaveeti RT, Longoni SS, Degani M, Buonfrate D, Giorgetti A, Tiberti N
Parasit Vectors 2023 Jan 31;16(1):45. doi: 10.1186/s13071-023-05675-7. PMID: 36721249Free PMC Article
Rodgers BD, Ward CW
Endocr Rev 2022 Mar 9;43(2):329-365. doi: 10.1210/endrev/bnab030. PMID: 34520530Free PMC Article
Biousse V, Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Esposti S, La Morgia C, Priglinger C, Karanja R, Blouin L, Taiel M, Sahel JA; LHON Study Group
J Neuroophthalmol 2021 Sep 1;41(3):309-315. doi: 10.1097/WNO.0000000000001367. PMID: 34415265Free PMC Article
Legrand L, Diallo A, Monin ML, Ewenczyk C, Charles P, Isnard R, Vicaut E, Montalescot G, Durr A, Pousset F
Am J Cardiovasc Drugs 2020 Apr;20(2):209-216. doi: 10.1007/s40256-019-00375-z. PMID: 31650522
Alis R, Santos-Lozano A, Sanchis-Gomar F, Pareja-Galeano H, Fiuza-Luces C, Garatachea N, Lucia A, Emanuele E
J Trace Elem Med Biol 2016 May;35:103-6. Epub 2016 Feb 12 doi: 10.1016/j.jtemb.2016.02.002. PMID: 27049133

Clinical prediction guides

Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ
Am J Hum Genet 2023 Jan 5;110(1):105-119. Epub 2022 Dec 8 doi: 10.1016/j.ajhg.2022.11.015. PMID: 36493768Free PMC Article
Peggion C, Massimino ML, Bonadio RS, Lia F, Lopreiato R, Cagnin S, Calì T, Bertoli A
Int J Mol Sci 2021 Nov 1;22(21) doi: 10.3390/ijms222111853. PMID: 34769284Free PMC Article
Wilund KR, Thompson S, Viana JL, Wang AY
Contrib Nephrol 2021;199:43-55. Epub 2021 Aug 3 doi: 10.1159/000517696. PMID: 34343989
Wang P, Deng J, Dong J, Liu J, Bigio EH, Mesulam M, Wang T, Sun L, Wang L, Lee AY, McGee WA, Chen X, Fushimi K, Zhu L, Wu JY
PLoS Genet 2019 May;15(5):e1007947. Epub 2019 May 17 doi: 10.1371/journal.pgen.1007947. PMID: 31100073Free PMC Article
Shurtleff H, Barry D, Chanprasert S, Firman T, Warner M, Saneto RP
Epilepsy Behav 2018 Nov;88:235-243. Epub 2018 Oct 11 doi: 10.1016/j.yebeh.2018.09.013. PMID: 30316150

Recent systematic reviews

Dobler R, Dowling DK, Morrow EH, Reinhardt K
Hum Reprod Update 2018 Sep 1;24(5):519-534. doi: 10.1093/humupd/dmy018. PMID: 29757366

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