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Combined oxidative phosphorylation deficiency 50(COXPD50)

MedGen UID:
1753519
Concept ID:
C5436623
Disease or Syndrome
Synonyms: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
 
Gene (location): MRPS25 (3p25.1)
 
Monarch Initiative: MONDO:0033570
OMIM®: 619025

Clinical features

From HPO
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.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Partial agenesis of the corpus callosum
MedGen UID:
98127
Concept ID:
C0431368
Congenital Abnormality
A partial failure of the development of the corpus callosum.
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.
Generalized dystonia
MedGen UID:
341342
Concept ID:
C1848954
Finding
A type of dystonia that affects all or most of the body.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Brisk reflexes
MedGen UID:
382164
Concept ID:
C2673700
Finding
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Delayed ability to roll over
MedGen UID:
1718874
Concept ID:
C5397980
Finding
Delayed achievement of the ability to roll front to back and back to front.
Delayed ability to crawl
MedGen UID:
1772845
Concept ID:
C5421628
Finding
A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.
Poor head control
MedGen UID:
322809
Concept ID:
C1836038
Finding
Difficulty to maintain correct position of the head while standing or sitting.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Developmental dysplasia of the hip
MedGen UID:
1640560
Concept ID:
C4551649
Congenital Abnormality
Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21. DDH3 (620690) is caused by mutation in the LRP1 gene (107770) on chromosome 12q13.
Adrenal insufficiency
MedGen UID:
1351
Concept ID:
C0001623
Disease or Syndrome
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.
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

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
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Hansson E, Svensson H, Brorson H
Orphanet J Rare Dis 2012 Apr 30;7:23. doi: 10.1186/1750-1172-7-23. PMID: 22546240Free PMC Article

Recent clinical studies

Etiology

Lai TC, Chen YC, Cheng HH, Lee TL, Tsai JS, Lee IT, Peng KT, Lee CW, Hsu LF, Chen YL
Part Fibre Toxicol 2022 Mar 29;19(1):25. doi: 10.1186/s12989-022-00462-1. PMID: 35351169Free PMC Article
Jéru I
Presse Med 2021 Nov;50(3):104074. Epub 2021 Sep 23 doi: 10.1016/j.lpm.2021.104074. PMID: 34562561
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
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
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group
Neurology 2014 Nov 18;83(21):1898-905. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000001002. PMID: 25339210Free PMC Article

Diagnosis

Chojdak-Łukasiewicz J, Dziadkowiak E, Budrewicz S
Genes (Basel) 2021 Nov 23;12(12) doi: 10.3390/genes12121855. PMID: 34946804Free PMC Article
Jéru I
Presse Med 2021 Nov;50(3):104074. Epub 2021 Sep 23 doi: 10.1016/j.lpm.2021.104074. PMID: 34562561
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
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
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group
Neurology 2014 Nov 18;83(21):1898-905. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000001002. PMID: 25339210Free PMC Article

Therapy

Luo Y, Zhang J, Jiao Y, Huang H, Ming L, Song Y, Niu Y, Tang X, Liu L, Li Y, Jiang Y
J Nat Med 2024 Mar;78(2):439-454. Epub 2024 Feb 14 doi: 10.1007/s11418-024-01783-5. PMID: 38351420
Tein I
Epilepsy Behav 2023 Aug;145:109338. Epub 2023 Jul 13 doi: 10.1016/j.yebeh.2023.109338. PMID: 37453291
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
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
Beal MF
Amino Acids 2011 May;40(5):1305-13. Epub 2011 Mar 30 doi: 10.1007/s00726-011-0851-0. PMID: 21448659

Prognosis

Giovannuzzi S, Chavarria D, Provensi G, Leri M, Bucciantini M, Carradori S, Bonardi A, Gratteri P, Borges F, Nocentini A, Supuran CT
J Med Chem 2024 Mar 14;67(5):4170-4193. Epub 2024 Mar 4 doi: 10.1021/acs.jmedchem.4c00045. PMID: 38436571
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Molinari C, Morsanuto V, Ghirlanda S, Ruga S, Notte F, Gaetano L, Uberti F
Oxid Med Cell Longev 2019;2019:2843121. Epub 2019 Feb 28 doi: 10.1155/2019/2843121. PMID: 30944691Free PMC Article
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group
Neurology 2014 Nov 18;83(21):1898-905. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000001002. PMID: 25339210Free PMC Article
Hansson E, Svensson H, Brorson H
Orphanet J Rare Dis 2012 Apr 30;7:23. doi: 10.1186/1750-1172-7-23. PMID: 22546240Free PMC Article

Clinical prediction guides

Giovannuzzi S, Chavarria D, Provensi G, Leri M, Bucciantini M, Carradori S, Bonardi A, Gratteri P, Borges F, Nocentini A, Supuran CT
J Med Chem 2024 Mar 14;67(5):4170-4193. Epub 2024 Mar 4 doi: 10.1021/acs.jmedchem.4c00045. PMID: 38436571
Lai TC, Chen YC, Cheng HH, Lee TL, Tsai JS, Lee IT, Peng KT, Lee CW, Hsu LF, Chen YL
Part Fibre Toxicol 2022 Mar 29;19(1):25. doi: 10.1186/s12989-022-00462-1. PMID: 35351169Free PMC Article
Wang M, Xu X, Guo Y, Tao R, Hu C, Dong X, Huang Y, Zhu B
Infect Genet Evol 2019 Nov;75:103955. Epub 2019 Jul 5 doi: 10.1016/j.meegid.2019.103955. PMID: 31284044
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S
Orphanet J Rare Dis 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. PMID: 30025539Free PMC Article
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group
Neurology 2014 Nov 18;83(21):1898-905. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000001002. PMID: 25339210Free PMC Article

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

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