U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Combined oxidative phosphorylation deficiency 47(COXPD47)

MedGen UID:
1775535
Concept ID:
C5436476
Disease or Syndrome
Synonyms: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
 
Gene (location): MRPS28 (8q21.13)
 
Monarch Initiative: MONDO:0033537
OMIM®: 618958

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Cone-shaped epiphyses of the distal phalanges of the hand
MedGen UID:
869523
Concept ID:
C4023951
Anatomical Abnormality
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.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Dehydration
MedGen UID:
8273
Concept ID:
C0011175
Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
A decreased concentration of glucose in the blood.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
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).
Elevated circulating hepatic transaminase concentration
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Professional guidelines

PubMed

Alikhani M, Saberi S, Esmaeili M, Michel V, Tashakoripour M, Abdirad A, Aghakhani A, Eybpoosh S, Vosough M, Mohagheghi MA, Eshagh Hosseini M, Touati E, Mohammadi M
Iran Biomed J 2021 Sep 1;25(5):323-33. Epub 2021 Aug 22 doi: 10.52547/ibj.25.5.323. PMID: 34425651Free PMC Article
García-Otero L, López M, Guitart-Mampel M, Morén C, Goncé A, Esteve C, Salazar L, Gómez O, Martínez JM, Torres B, César S, Garrabou G, Crispi F, Gratacós E
PLoS One 2019;14(3):e0213279. Epub 2019 Mar 4 doi: 10.1371/journal.pone.0213279. PMID: 30830946Free PMC Article
Hanisch F, Müller T, Muser A, Deschauer M, Zierz S
J Neurol 2006 Apr;253(4):417-23. Epub 2006 Apr 20 doi: 10.1007/s00415-006-0987-0. PMID: 16619117

Recent clinical studies

Etiology

Payne T, Burgess T, Bradley S, Roscoe S, Sassani M, Dunning MJ, Hernandez D, Scholz S, McNeill A, Taylor R, Su L, Wilkinson I, Jenkins T, Mortiboys H, Bandmann O
Brain 2024 Jan 4;147(1):267-280. doi: 10.1093/brain/awad364. PMID: 38059801Free PMC Article
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free 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
García-Otero L, López M, Guitart-Mampel M, Morén C, Goncé A, Esteve C, Salazar L, Gómez O, Martínez JM, Torres B, César S, Garrabou G, Crispi F, Gratacós E
PLoS One 2019;14(3):e0213279. Epub 2019 Mar 4 doi: 10.1371/journal.pone.0213279. PMID: 30830946Free PMC Article
Babizhayev MA, Yegorov YE
Am J Ther 2016 Jan-Feb;23(1):e98-117. doi: 10.1097/MJT.0b013e3181ea31ff. PMID: 21048433

Diagnosis

Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Dorison N, Gaignard P, Bayot A, Gelot A, Becker PH, Fourati S, Lebigot E, Charles P, Wai T, Therond P, Slama A
Mol Genet Metab 2020 Sep-Oct;131(1-2):107-113. Epub 2020 Sep 9 doi: 10.1016/j.ymgme.2020.09.002. PMID: 32933822
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
Koeppen AH
J Neurol Sci 2011 Apr 15;303(1-2):1-12. doi: 10.1016/j.jns.2011.01.010. PMID: 21315377Free PMC Article
Rogers SA
Altern Ther Health Med 2006 Jul-Aug;12(4):44-51; quiz 52-3. PMID: 16862742

Therapy

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
Babizhayev MA, Yegorov YE
Am J Ther 2016 Jan-Feb;23(1):e98-117. doi: 10.1097/MJT.0b013e3181ea31ff. PMID: 21048433
Rogers SA
Altern Ther Health Med 2006 Jul-Aug;12(4):44-51; quiz 52-3. PMID: 16862742
Hart PE, Lodi R, Rajagopalan B, Bradley JL, Crilley JG, Turner C, Blamire AM, Manners D, Styles P, Schapira AH, Cooper JM
Arch Neurol 2005 Apr;62(4):621-6. doi: 10.1001/archneur.62.4.621. PMID: 15824263
Taivassalo T, Matthews PM, De Stefano N, Sripathi N, Genge A, Karpati G, Arnold DL
Neurology 1996 Aug;47(2):529-34. doi: 10.1212/wnl.47.2.529. PMID: 8757032

Prognosis

Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
de Crécy-Lagard V, Boccaletto P, Mangleburg CG, Sharma P, Lowe TM, Leidel SA, Bujnicki JM
Nucleic Acids Res 2019 Mar 18;47(5):2143-2159. doi: 10.1093/nar/gkz011. PMID: 30698754Free PMC Article
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS
JAMA Neurol 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. PMID: 28395030Free PMC Article
Koeppen AH
J Neurol Sci 2011 Apr 15;303(1-2):1-12. doi: 10.1016/j.jns.2011.01.010. PMID: 21315377Free PMC Article
Hart PE, Lodi R, Rajagopalan B, Bradley JL, Crilley JG, Turner C, Blamire AM, Manners D, Styles P, Schapira AH, Cooper JM
Arch Neurol 2005 Apr;62(4):621-6. doi: 10.1001/archneur.62.4.621. PMID: 15824263

Clinical prediction guides

de Crécy-Lagard V, Boccaletto P, Mangleburg CG, Sharma P, Lowe TM, Leidel SA, Bujnicki JM
Nucleic Acids Res 2019 Mar 18;47(5):2143-2159. doi: 10.1093/nar/gkz011. PMID: 30698754Free PMC Article
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS
JAMA Neurol 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. PMID: 28395030Free PMC Article
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
Fukasawa Y, Tsuji J, Fu SC, Tomii K, Horton P, Imai K
Mol Cell Proteomics 2015 Apr;14(4):1113-26. Epub 2015 Feb 10 doi: 10.1074/mcp.M114.043083. PMID: 25670805Free PMC Article
Hart PE, Lodi R, Rajagopalan B, Bradley JL, Crilley JG, Turner C, Blamire AM, Manners D, Styles P, Schapira AH, Cooper JM
Arch Neurol 2005 Apr;62(4):621-6. doi: 10.1001/archneur.62.4.621. PMID: 15824263

Recent systematic reviews

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

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...