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Deficiency of enolase

MedGen UID:
713875
Concept ID:
C1291579
Disease or Syndrome
Synonyms: Deficiency of 2-phosphoglycerate dehydratase; Deficiency of phosphopyruvate hydratase; Erythrocyte Enolase Deficiency
SNOMED CT: Deficiency of phosphopyruvate hydratase (124618001); Deficiency of 2-phosphoglycerate dehydratase (124618001); Deficiency of enolase (124618001)

Definition

A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Petrashenko VA, Loboda AM, Smiyan OI, Popov SV, Kasyan SN, Zaitsev IE, Redko EK
Wiad Lek 2019 Aug 31;72(8):1512-1516. PMID: 32012501
Romano A, Rigante D, Cipolla C
Autoimmun Rev 2019 Oct;18(10):102363. Epub 2019 Aug 8 doi: 10.1016/j.autrev.2019.102363. PMID: 31401342

Recent clinical studies

Etiology

Wang M, Xian P, Zheng W, Li Z, Chen A, Xiao H, Xu C, Wang F, Mao H, Meng H, Zhao Y, Luo C, Wang Y, Wu S
EMBO Mol Med 2023 Jun 7;15(6):e17101. Epub 2023 Apr 20 doi: 10.15252/emmm.202217101. PMID: 37078424Free PMC Article
Mølstrøm S, Nielsen TH, Nordstrøm CH, Forsse A, Møller S, Venø S, Mamaev D, Tencer T, Theódórsdóttir Á, Krøigård T, Møller J, Hassager C, Kjærgaard J, Schmidt H, Toft P
Crit Care 2023 Feb 24;27(1):73. doi: 10.1186/s13054-023-04376-y. PMID: 36823636Free PMC Article
Yang H, Tian S, Xie L, Chen Y, Ma L
Mol Med Rep 2020 Oct;22(4):3493-3503. Epub 2020 Aug 19 doi: 10.3892/mmr.2020.11436. PMID: 32945464Free PMC Article
Heier MS, Skinningsrud A, Paus E, Gautvik KM
Sleep Med 2014 Jun;15(6):614-8. Epub 2014 Apr 1 doi: 10.1016/j.sleep.2014.02.005. PMID: 24784789
Fang CZ, Yang YJ, Wang QH, Yao Y, Zhang XY, He XH
PLoS One 2013;8(6):e66748. Epub 2013 Jun 14 doi: 10.1371/journal.pone.0066748. PMID: 23799131Free PMC Article

Diagnosis

Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I
Am J Hum Genet 2022 Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014. PMID: 35931051Free PMC Article
McCoy ES, Zylka MJ
Mol Pain 2014 Nov 19;10:69. doi: 10.1186/1744-8069-10-69. PMID: 25406633Free PMC Article
Cigna D, D'Anna C, Zizzo C, Francofonte D, Sorrentino I, Colomba P, Albeggiani G, Armini A, Bianchi L, Bini L, Duro G
Mol Biosyst 2013 Jun;9(6):1162-8. Epub 2013 Feb 5 doi: 10.1039/c3mb25402j. PMID: 23385635
Toscano A, Musumeci O
Acta Myol 2007 Oct;26(2):105-7. PMID: 18421897Free PMC Article
Stelow EB, Moskaluk CA, Mills SE
Am J Surg Pathol 2006 Nov;30(11):1401-4. doi: 10.1097/01.pas.0000213272.15221.38. PMID: 17063080

Therapy

Winkler F, Hipp AV, Ramirez C, Martin B, Villa M, Neuwirt E, Gorka O, Aerssens J, Johansson SE, Rana N, Llewellyn-Lacey S, Price DA, Panning M, Groß O, Pearce EL, Hermann CM, Schumann K, Hannibal L, Neumann-Haefelin C, Boettler T, Knolle P, Hofmann M, Wohlleber D, Thimme R, Bengsch B
Gut 2023 Oct;72(10):1971-1984. Epub 2023 Aug 4 doi: 10.1136/gutjnl-2022-328734. PMID: 37541771Free PMC Article
Mølstrøm S, Nielsen TH, Nordstrøm CH, Forsse A, Møller S, Venø S, Mamaev D, Tencer T, Theódórsdóttir Á, Krøigård T, Møller J, Hassager C, Kjærgaard J, Schmidt H, Toft P
Crit Care 2023 Feb 24;27(1):73. doi: 10.1186/s13054-023-04376-y. PMID: 36823636Free PMC Article
Muller FL, Colla S, Aquilanti E, Manzo VE, Genovese G, Lee J, Eisenson D, Narurkar R, Deng P, Nezi L, Lee MA, Hu B, Hu J, Sahin E, Ong D, Fletcher-Sananikone E, Ho D, Kwong L, Brennan C, Wang YA, Chin L, DePinho RA
Nature 2012 Aug 16;488(7411):337-42. doi: 10.1038/nature11331. PMID: 22895339Free PMC Article
Burlak C, Wang ZY, Chihara RK, Lutz AJ, Wang Y, Estrada JL, Tector AJ
Xenotransplantation 2012 Mar-Apr;19(2):92-101. doi: 10.1111/j.1399-3089.2012.00695.x. PMID: 22497511
Scarlato G, Comi GP
Curr Opin Neurol 2002 Oct;15(5):533-8. doi: 10.1097/00019052-200210000-00003. PMID: 12351996

Prognosis

Mølstrøm S, Nielsen TH, Nordstrøm CH, Forsse A, Møller S, Venø S, Mamaev D, Tencer T, Theódórsdóttir Á, Krøigård T, Møller J, Hassager C, Kjærgaard J, Schmidt H, Toft P
Crit Care 2023 Feb 24;27(1):73. doi: 10.1186/s13054-023-04376-y. PMID: 36823636Free PMC Article
Zhang C, Chen L, Liu Y, Huang J, Liu A, Xu Y, Shen Y, He H, Xu D
Theranostics 2021;11(8):3676-3693. Epub 2021 Jan 26 doi: 10.7150/thno.55424. PMID: 33664855Free PMC Article
Romano A, Rigante D, Cipolla C
Autoimmun Rev 2019 Oct;18(10):102363. Epub 2019 Aug 8 doi: 10.1016/j.autrev.2019.102363. PMID: 31401342
Cigna D, D'Anna C, Zizzo C, Francofonte D, Sorrentino I, Colomba P, Albeggiani G, Armini A, Bianchi L, Bini L, Duro G
Mol Biosyst 2013 Jun;9(6):1162-8. Epub 2013 Feb 5 doi: 10.1039/c3mb25402j. PMID: 23385635
Fotovati A, Abu-Ali S, Sugita Y, Nakamura Y
J Clin Neurosci 2011 Oct;18(10):1383-5. Epub 2011 Jul 23 doi: 10.1016/j.jocn.2011.02.021. PMID: 21784644

Clinical prediction guides

Winkler F, Hipp AV, Ramirez C, Martin B, Villa M, Neuwirt E, Gorka O, Aerssens J, Johansson SE, Rana N, Llewellyn-Lacey S, Price DA, Panning M, Groß O, Pearce EL, Hermann CM, Schumann K, Hannibal L, Neumann-Haefelin C, Boettler T, Knolle P, Hofmann M, Wohlleber D, Thimme R, Bengsch B
Gut 2023 Oct;72(10):1971-1984. Epub 2023 Aug 4 doi: 10.1136/gutjnl-2022-328734. PMID: 37541771Free PMC Article
Langenhorst D, Fürst AL, Alberter K, Vilhena C, Dasari P, Daud M, Heilig L, Luther CH, Dittrich M, Reiher N, Wich M, Elmowafy M, Jacobsen ID, Jungnickel B, Zipfel PF, Beyersdorf N
J Immunol 2023 Sep 1;211(5):804-815. doi: 10.4049/jimmunol.2200318. PMID: 37436030
Ihara S, Miyamoto Y, Le CHY, Tran VN, Hanson EM, Fischer M, Hanevik K, Eckmann L
PLoS Negl Trop Dis 2022 Apr;16(4):e0010323. Epub 2022 Apr 25 doi: 10.1371/journal.pntd.0010323. PMID: 35468132Free PMC Article
Schlötzer-Schrehardt U, Kruse FE
Exp Eye Res 2005 Sep;81(3):247-64. doi: 10.1016/j.exer.2005.02.016. PMID: 16051216
Scarlato G, Comi GP
Curr Opin Neurol 2002 Oct;15(5):533-8. doi: 10.1097/00019052-200210000-00003. PMID: 12351996

Recent systematic reviews

Ehrenpreis ED, Jarrouj G, Meader R, Wagner C, Ellis M
Dis Mon 2022 Feb;68(2):101285. Epub 2021 Sep 10 doi: 10.1016/j.disamonth.2021.101285. PMID: 34511254

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