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Familial multiple factor deficiency syndrome, type I

MedGen UID:
543986
Concept ID:
C0272342
Disease or Syndrome
Synonyms: Factor V AND factor VIII deficiency; FMFD syndrome, type I
SNOMED CT: Familial multiple factor deficiency syndrome, type I (84048006); FMFD syndrome, type I (84048006); Factor V AND factor VIII deficiency (84048006)

Professional guidelines

PubMed

Wit JM, Kiess W, Mullis P
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):1-17. doi: 10.1016/j.beem.2010.06.007. PMID: 21396571
Miner MM, Sadovsky R
Cleve Clin J Med 2007 May;74 Suppl 3:S38-46. doi: 10.3949/ccjm.74.suppl_3.s38. PMID: 17549824
Baumann G
Am J Pharmacogenomics 2002;2(2):93-111. doi: 10.2165/00129785-200202020-00003. PMID: 12083945

Recent clinical studies

Therapy

Schwartz DM, Kitakule MM, Dizon BL, Gutierrez-Huerta C, Blackstone SA, Burma AM, Son A, Deuitch N, Rosenzweig S, Komarow H, Stone DL, Jones A, Nehrebecky M, Hoffmann P, Romeo T, de Jesus AA, Alehashemi S, Garg M, Torreggiani S, Montealegre Sanchez GA, Honer K, Souto Adeva G, Barron KS, Aksentijevich I, Ombrello AK, Goldbach-Mansky R, Kastner DL, Milner JD, Frischmeyer-Guerrerio P
Ann Rheum Dis 2021 Jun;80(6):788-795. Epub 2021 Feb 22 doi: 10.1136/annrheumdis-2020-219137. PMID: 33619160Free PMC Article
Chaitman BR, Alexander KP, Cyr DD, Berger JS, Reynolds HR, Bangalore S, Boden WE, Lopes RD, Demkow M, Piero Perna G, Riezebos RK, McFalls EO, Banerjee S, Bagai A, Gosselin G, O'Brien SM, Rockhold FW, Waters DD, Thygesen KA, Stone GW, White HD, Maron DJ, Hochman JS; ISCHEMIA Research Group
Circulation 2021 Feb 23;143(8):790-804. Epub 2020 Dec 3 doi: 10.1161/CIRCULATIONAHA.120.047987. PMID: 33267610Free PMC Article
Biller LH, Ukaegbu C, Dhingra TG, Burke CA, Chertock Y, Chittenden A, Church JM, Koeppe ES, Leach BH, Levinson E, Lim RM, Lutz M, Salo-Mullen E, Sheikh R, Idos G, Kastrinos F, Stoffel E, Weiss JM, Hall MJ, Kalady MF, Stadler ZK, Syngal S, Yurgelun MB
Cancer Prev Res (Phila) 2020 Mar;13(3):291-298. Epub 2020 Feb 12 doi: 10.1158/1940-6207.CAPR-19-0416. PMID: 32051178Free PMC Article
Miner MM, Sadovsky R
Cleve Clin J Med 2007 May;74 Suppl 3:S38-46. doi: 10.3949/ccjm.74.suppl_3.s38. PMID: 17549824
Baumann G
Am J Pharmacogenomics 2002;2(2):93-111. doi: 10.2165/00129785-200202020-00003. PMID: 12083945

Prognosis

Winer H, Rodrigues GOL, Hixon JA, Aiello FB, Hsu TC, Wachter BT, Li W, Durum SK
Cytokine 2022 Dec;160:156049. Epub 2022 Oct 3 doi: 10.1016/j.cyto.2022.156049. PMID: 36201890
Chaitman BR, Alexander KP, Cyr DD, Berger JS, Reynolds HR, Bangalore S, Boden WE, Lopes RD, Demkow M, Piero Perna G, Riezebos RK, McFalls EO, Banerjee S, Bagai A, Gosselin G, O'Brien SM, Rockhold FW, Waters DD, Thygesen KA, Stone GW, White HD, Maron DJ, Hochman JS; ISCHEMIA Research Group
Circulation 2021 Feb 23;143(8):790-804. Epub 2020 Dec 3 doi: 10.1161/CIRCULATIONAHA.120.047987. PMID: 33267610Free PMC Article
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Agaimy A, Foulkes WD
Semin Diagn Pathol 2018 May;35(3):193-198. Epub 2018 Feb 1 doi: 10.1053/j.semdp.2018.01.002. PMID: 29397238
Devendra D, Eisenbarth GS
J Allergy Clin Immunol 2003 Feb;111(2 Suppl):S624-36. doi: 10.1067/mai.2003.81. PMID: 12592308

Clinical prediction guides

Bao Q, Zhang B, Zhou L, Yang Q, Mu X, Liu X, Zhang S, Yuan M, Zhang Y, Che J, Wei W, Liu T, Li G, He J
Circ Res 2024 Apr 12;134(8):e72-e91. Epub 2024 Mar 8 doi: 10.1161/CIRCRESAHA.123.324086. PMID: 38456298
Winer H, Rodrigues GOL, Hixon JA, Aiello FB, Hsu TC, Wachter BT, Li W, Durum SK
Cytokine 2022 Dec;160:156049. Epub 2022 Oct 3 doi: 10.1016/j.cyto.2022.156049. PMID: 36201890
Agaimy A, Foulkes WD
Semin Diagn Pathol 2018 May;35(3):193-198. Epub 2018 Feb 1 doi: 10.1053/j.semdp.2018.01.002. PMID: 29397238
Devendra D, Eisenbarth GS
J Allergy Clin Immunol 2003 Feb;111(2 Suppl):S624-36. doi: 10.1067/mai.2003.81. PMID: 12592308
Gryfe R, Swallow C, Bapat B, Redston M, Gallinger S, Couture J
Curr Probl Cancer 1997 Sep-Oct;21(5):233-300. doi: 10.1016/s0147-0272(97)80003-7. PMID: 9438104

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