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Emm-null phenotype

MedGen UID:
1801903
Concept ID:
C5677026
Finding
Synonyms: EMM-NULL PHENOTYPE; Emm-null red blood cell phenotype
 
OMIM®: 616918; 619812

Professional guidelines

PubMed

Izquierdo M, Merchant RA, Morley JE, Anker SD, Aprahamian I, Arai H, Aubertin-Leheudre M, Bernabei R, Cadore EL, Cesari M, Chen LK, de Souto Barreto P, Duque G, Ferrucci L, Fielding RA, García-Hermoso A, Gutiérrez-Robledo LM, Harridge SDR, Kirk B, Kritchevsky S, Landi F, Lazarus N, Martin FC, Marzetti E, Pahor M, Ramírez-Vélez R, Rodriguez-Mañas L, Rolland Y, Ruiz JG, Theou O, Villareal DT, Waters DL, Won Won C, Woo J, Vellas B, Fiatarone Singh M
J Nutr Health Aging 2021;25(7):824-853. doi: 10.1007/s12603-021-1665-8. PMID: 34409961
Graus F, Vogrig A, Muñiz-Castrillo S, Antoine JG, Desestret V, Dubey D, Giometto B, Irani SR, Joubert B, Leypoldt F, McKeon A, Prüss H, Psimaras D, Thomas L, Titulaer MJ, Vedeler CA, Verschuuren JJ, Dalmau J, Honnorat J
Neurol Neuroimmunol Neuroinflamm 2021 Jul;8(4) Epub 2021 May 18 doi: 10.1212/NXI.0000000000001014. PMID: 34006622Free PMC Article
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article

Recent clinical studies

Etiology

Khan MS, Arshad MS, Greene SJ, Van Spall HGC, Pandey A, Vemulapalli S, Perakslis E, Butler J
Eur J Heart Fail 2023 Sep;25(9):1507-1525. Epub 2023 Sep 8 doi: 10.1002/ejhf.2994. PMID: 37560778
Chung KF, Dixey P, Abubakar-Waziri H, Bhavsar P, Patel PH, Guo S, Ji Y
Chin Med J (Engl) 2022 May 20;135(10):1141-1155. doi: 10.1097/CM9.0000000000001990. PMID: 35633594Free PMC Article
Hou YC, Yu HC, Martin R, Cirulli ET, Schenker-Ahmed NM, Hicks M, Cohen IV, Jönsson TJ, Heister R, Napier L, Swisher CL, Dominguez S, Tang H, Li W, Perkins BA, Barea J, Rybak C, Smith E, Duchicela K, Doney M, Brar P, Hernandez N, Kirkness EF, Kahn AM, Venter JC, Karow DS, Caskey CT
Proc Natl Acad Sci U S A 2020 Feb 11;117(6):3053-3062. Epub 2020 Jan 24 doi: 10.1073/pnas.1909378117. PMID: 31980526Free PMC Article
Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W, Karapetyan K, Katz K, Liu C, Maddipatla Z, Malheiro A, McDaniel K, Ovetsky M, Riley G, Zhou G, Holmes JB, Kattman BL, Maglott DR
Nucleic Acids Res 2018 Jan 4;46(D1):D1062-D1067. doi: 10.1093/nar/gkx1153. PMID: 29165669Free PMC Article
Navarini AA, Burden AD, Capon F, Mrowietz U, Puig L, Köks S, Kingo K, Smith C, Barker JN; ERASPEN Network
J Eur Acad Dermatol Venereol 2017 Nov;31(11):1792-1799. Epub 2017 Aug 29 doi: 10.1111/jdv.14386. PMID: 28585342

Diagnosis

Chung KF, Dixey P, Abubakar-Waziri H, Bhavsar P, Patel PH, Guo S, Ji Y
Chin Med J (Engl) 2022 May 20;135(10):1141-1155. doi: 10.1097/CM9.0000000000001990. PMID: 35633594Free PMC Article
Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG
J Clin Immunol 2020 Jan;40(1):66-81. Epub 2020 Feb 11 doi: 10.1007/s10875-020-00758-x. PMID: 32048120Free PMC Article
Hou YC, Yu HC, Martin R, Cirulli ET, Schenker-Ahmed NM, Hicks M, Cohen IV, Jönsson TJ, Heister R, Napier L, Swisher CL, Dominguez S, Tang H, Li W, Perkins BA, Barea J, Rybak C, Smith E, Duchicela K, Doney M, Brar P, Hernandez N, Kirkness EF, Kahn AM, Venter JC, Karow DS, Caskey CT
Proc Natl Acad Sci U S A 2020 Feb 11;117(6):3053-3062. Epub 2020 Jan 24 doi: 10.1073/pnas.1909378117. PMID: 31980526Free PMC Article
Battaglia A, Carey JC, South ST
Am J Med Genet C Semin Med Genet 2015 Sep;169(3):216-23. Epub 2015 Aug 4 doi: 10.1002/ajmg.c.31449. PMID: 26239400
Amarenco P, Bogousslavsky J, Caplan LR, Donnan GA, Hennerici MG
Cerebrovasc Dis 2009;27(5):493-501. Epub 2009 Apr 3 doi: 10.1159/000210432. PMID: 19342825

Therapy

Stolz L, Doldi PM, Sannino A, Hausleiter J, Grayburn PA
JACC Cardiovasc Imaging 2024 Jun;17(6):659-668. Epub 2024 Mar 27 doi: 10.1016/j.jcmg.2024.01.012. PMID: 38551534
Brightling C, Greening N
Eur Respir J 2019 Aug;54(2) Epub 2019 Aug 1 doi: 10.1183/13993003.00651-2019. PMID: 31073084
Martínez-González MA, Salas-Salvadó J, Estruch R, Corella D, Fitó M, Ros E; PREDIMED INVESTIGATORS
Prog Cardiovasc Dis 2015 Jul-Aug;58(1):50-60. Epub 2015 May 1 doi: 10.1016/j.pcad.2015.04.003. PMID: 25940230
Menter MA, Griffiths CE
Dermatol Clin 2015 Jan;33(1):161-6. doi: 10.1016/j.det.2014.09.012. PMID: 25412790
Amarenco P, Bogousslavsky J, Caplan LR, Donnan GA, Hennerici MG
Cerebrovasc Dis 2009;27(5):493-501. Epub 2009 Apr 3 doi: 10.1159/000210432. PMID: 19342825

Prognosis

Trivedi PJ, Hirschfield GM
Gut 2021 Oct;70(10):1989-2003. Epub 2021 Jul 15 doi: 10.1136/gutjnl-2020-322362. PMID: 34266966
Durdin R, Parsons CM, Dennison E, Harvey NC, Cooper C, Ward K
Curr Osteoporos Rep 2020 Dec;18(6):803-810. Epub 2020 Nov 17 doi: 10.1007/s11914-020-00642-y. PMID: 33200372Free PMC Article
Jackson HW, Fischer JR, Zanotelli VRT, Ali HR, Mechera R, Soysal SD, Moch H, Muenst S, Varga Z, Weber WP, Bodenmiller B
Nature 2020 Feb;578(7796):615-620. Epub 2020 Jan 20 doi: 10.1038/s41586-019-1876-x. PMID: 31959985
Liu Z, Kuo PL, Horvath S, Crimmins E, Ferrucci L, Levine M
PLoS Med 2018 Dec;15(12):e1002718. Epub 2018 Dec 31 doi: 10.1371/journal.pmed.1002718. PMID: 30596641Free PMC Article
Ellulu MS , Jalambo MO
Kathmandu Univ Med J (KUMJ) 2017 Jan.-Mar.;15(57):91-93. PMID: 29446373

Clinical prediction guides

Stolz L, Doldi PM, Sannino A, Hausleiter J, Grayburn PA
JACC Cardiovasc Imaging 2024 Jun;17(6):659-668. Epub 2024 Mar 27 doi: 10.1016/j.jcmg.2024.01.012. PMID: 38551534
Obokata M, Reddy YNV, Borlaug BA
JACC Cardiovasc Imaging 2020 Jan;13(1 Pt 2):245-257. Epub 2019 Jun 12 doi: 10.1016/j.jcmg.2018.12.034. PMID: 31202759Free PMC Article
Schiattarella GG, Tong D, Hill JA
Circulation 2018 Aug 21;138(8):749-750. doi: 10.1161/CIRCULATIONAHA.118.036938. PMID: 30359128
Goodman ZD
Clin Liver Dis 2017 Feb;21(1):89-101. Epub 2016 Oct 18 doi: 10.1016/j.cld.2016.08.006. PMID: 27842777
Turkheimer E
Hastings Cent Rep 2015 Sep-Oct;45(5 Suppl):S32-8. doi: 10.1002/hast.496. PMID: 26413946

Recent systematic reviews

Lobo S, Benusiglio PR, Coulet F, Boussemart L, Golmard L, Spier I, Hüneburg R, Aretz S, Colas C, Oliveira C
Eur J Med Genet 2021 Oct;64(10):104316. Epub 2021 Aug 21 doi: 10.1016/j.ejmg.2021.104316. PMID: 34425242
Barootchi S, Tavelli L, Zucchelli G, Giannobile WV, Wang HL
J Periodontol 2020 Nov;91(11):1386-1399. Epub 2020 Jun 12 doi: 10.1002/JPER.19-0715. PMID: 32392401
Bozdag G, Mumusoglu S, Zengin D, Karabulut E, Yildiz BO
Hum Reprod 2016 Dec;31(12):2841-2855. Epub 2016 Sep 22 doi: 10.1093/humrep/dew218. PMID: 27664216
Kalincik T
Neuroepidemiology 2015;44(4):199-214. Epub 2015 May 20 doi: 10.1159/000382130. PMID: 25997994
Maron BJ
JAMA 2002 Mar 13;287(10):1308-20. doi: 10.1001/jama.287.10.1308. PMID: 11886323

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