U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Transcription level of plasminogen activator inhibitor 1

MedGen UID:
864762
Concept ID:
C4016325
Finding
Synonyms: Plasminogen Activator Inhibitor I; TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF
 
OMIM®: 173360

Disease characteristics

Untreated complete plasminogen activator inhibitor 1 (PAI-1) deficiency is characterized by mild-to-moderate bleeding, although in some instances bleeding can be life-threatening. Most commonly, delayed bleeding is associated with injury, trauma, or surgery; spontaneous bleeding does not occur. While males and females with complete PAI-1 deficiency are affected equally, females may present more frequently with clinical manifestations or earlier in life than males due to menorrhagia and postpartum hemorrhage. Fewer than ten families with complete PAI-1 deficiency have been reported to date. The incidence of complete PAI-1 deficiency is higher than expected in the genetic isolate of the Old Order Amish population of eastern and southern Indiana due to a pathogenic founder variant. In one family from this Old Order Amish population, seven individuals were diagnosed to have cardiac fibrosis of varying degrees. [from GeneReviews]
Authors:
Meadow Heiman  |  Sweta Gupta  |  Magdalena Lewandowska, et. al.   view full author information

Professional guidelines

PubMed

Zhang L, Chopp M, Teng H, Ding G, Jiang Q, Yang XP, Rhaleb NE, Zhang ZG
Stroke 2014 Apr;45(4):1108-14. Epub 2014 Feb 18 doi: 10.1161/STROKEAHA.113.004399. PMID: 24549864Free PMC Article
Sapru A, Zaroff JG, Pawlikowska L, Liu KD, Khush KK, Baxter-Lowe LA, Hayden V, Menza RL, Convery M, Lo V, Poon A, Kim H, Young WL, Kukreja J, Matthay MA; DOGMATIC Study Investigators
Am J Transplant 2012 Jul;12(7):1848-54. Epub 2012 Mar 5 doi: 10.1111/j.1600-6143.2012.03996.x. PMID: 22390401Free PMC Article
Matsubara Y, Murata M, Isshiki I, Watanabe R, Zama T, Watanabe G, Watanabe K, Ikeda Y
Int J Hematol 1999 Jan;69(1):43-7. PMID: 10641442

Recent clinical studies

Etiology

Badran M, Gozal D
Int J Mol Sci 2022 May 15;23(10) doi: 10.3390/ijms23105516. PMID: 35628326Free PMC Article
Levine JA, Oleaga C, Eren M, Amaral AP, Shang M, Lux E, Khan SS, Shah SJ, Omura Y, Pamir N, Hay J, Barish G, Miyata T, Tavori H, Fazio S, Vaughan DE
Sci Rep 2021 Jan 11;11(1):430. doi: 10.1038/s41598-020-79948-x. PMID: 33432099Free PMC Article
Matsuyama T, Kubli SP, Yoshinaga SK, Pfeffer K, Mak TW
Cell Death Differ 2020 Dec;27(12):3209-3225. Epub 2020 Oct 9 doi: 10.1038/s41418-020-00633-7. PMID: 33037393Free PMC Article
Lee KL, Chen WL, Chen RJ, Lai KS, Chung CL
Respirology 2018 Jan;23(1):89-95. Epub 2017 Aug 23 doi: 10.1111/resp.13148. PMID: 28836366
Ma Z, Paek D, Oh CK
Clin Exp Allergy 2009 Aug;39(8):1136-44. Epub 2009 May 5 doi: 10.1111/j.1365-2222.2009.03272.x. PMID: 19438580

Diagnosis

Li S, Kong F, Xu X, Song S, Wu Y, Tong J
J Gene Med 2024 Jan;26(1):e3631. Epub 2023 Dec 7 doi: 10.1002/jgm.3631. PMID: 38062883
Ricke-Hoch M, Hoes MF, Pfeffer TJ, Schlothauer S, Nonhoff J, Haidari S, Bomer N, Scherr M, Stapel B, Stelling E, Kiyan Y, Falk C, Haghikia A, Binah O, Arany Z, Thum T, Bauersachs J, van der Meer P, Hilfiker-Kleiner D
Cardiovasc Res 2020 Sep 1;116(11):1875-1886. doi: 10.1093/cvr/cvz300. PMID: 31711127
Sakakibara T, Hibi K, Koike M, Fujiwara M, Kodera Y, Ito K, Nakao A
Cancer Sci 2006 May;97(5):395-9. doi: 10.1111/j.1349-7006.2006.00185.x. PMID: 16630137
Hjortland GO, Lillehammer T, Somme S, Wang J, Halvorsen T, Juell S, Hirschberg H, Fodstad Ø, Engebraaten O
Exp Cell Res 2004 Mar 10;294(1):130-9. doi: 10.1016/j.yexcr.2003.10.013. PMID: 14980508
Francis CW
Arch Pathol Lab Med 2002 Nov;126(11):1401-4. doi: 10.5858/2002-126-1401-PAILAP. PMID: 12421149

Therapy

Yuan HX, Chen YT, Li YQ, Wang YS, Ou ZJ, Li Y, Gao JJ, Deng MJ, Song YK, Fu L, Ci HB, Chang FJ, Cao Y, Jian YP, Kang BA, Mo ZW, Ning DS, Peng YM, Liu ZL, Liu XJ, Xu YQ, Xu J, Ou JS
Sci China Life Sci 2024 Mar;67(3):475-487. Epub 2023 May 17 doi: 10.1007/s11427-022-2328-x. PMID: 37219765Free PMC Article
Hu J, Liu Y, Pan Z, Huang X, Wang J, Cao W, Chen Z
Int J Mol Sci 2023 Mar 21;24(6) doi: 10.3390/ijms24065933. PMID: 36983006Free PMC Article
Ohuchi K, Amagai R, Ikawa T, Muto Y, Roh Y, Endo J, Maekawa T, Kambayashi Y, Asano Y, Fujimura T
Exp Dermatol 2023 Jan;32(1):50-59. Epub 2022 Oct 2 doi: 10.1111/exd.14681. PMID: 36168721
Flevaris P, Khan SS, Eren M, Schuldt AJT, Shah SJ, Lee DC, Gupta S, Shapiro AD, Burridge PW, Ghosh AK, Vaughan DE
Circulation 2017 Aug 15;136(7):664-679. Epub 2017 Jun 6 doi: 10.1161/CIRCULATIONAHA.117.028145. PMID: 28588076Free PMC Article
Janket SJ, Javaheri H, Ackerson LK, Ayilavarapu S, Meurman JH
J Dent Res 2015 Sep;94(9 Suppl):119S-27S. Epub 2015 Apr 3 doi: 10.1177/0022034515580795. PMID: 25840582

Prognosis

Gershoni A, Hassin O, Nataraj NB, Baruch S, Avioz-Seligman A, Pirona AC, Fellus-Alyagor L, Meir Salame T, Mukherjee S, Mallel G, Yarden Y, Aylon Y, Oren M
Mol Oncol 2023 Dec;17(12):2675-2693. Epub 2023 Oct 16 doi: 10.1002/1878-0261.13525. PMID: 37716913Free PMC Article
Takala R, Ramji DP, Andrews R, Zhou Y, Burston J, Choy E
Rheumatology (Oxford) 2022 Mar 2;61(3):992-1004. doi: 10.1093/rheumatology/keab467. PMID: 34080609Free PMC Article
Ricke-Hoch M, Hoes MF, Pfeffer TJ, Schlothauer S, Nonhoff J, Haidari S, Bomer N, Scherr M, Stapel B, Stelling E, Kiyan Y, Falk C, Haghikia A, Binah O, Arany Z, Thum T, Bauersachs J, van der Meer P, Hilfiker-Kleiner D
Cardiovasc Res 2020 Sep 1;116(11):1875-1886. doi: 10.1093/cvr/cvz300. PMID: 31711127
Ma Z, Paek D, Oh CK
Clin Exp Allergy 2009 Aug;39(8):1136-44. Epub 2009 May 5 doi: 10.1111/j.1365-2222.2009.03272.x. PMID: 19438580
Sakakibara T, Hibi K, Koike M, Fujiwara M, Kodera Y, Ito K, Nakao A
Cancer Sci 2006 May;97(5):395-9. doi: 10.1111/j.1349-7006.2006.00185.x. PMID: 16630137

Clinical prediction guides

Gershoni A, Hassin O, Nataraj NB, Baruch S, Avioz-Seligman A, Pirona AC, Fellus-Alyagor L, Meir Salame T, Mukherjee S, Mallel G, Yarden Y, Aylon Y, Oren M
Mol Oncol 2023 Dec;17(12):2675-2693. Epub 2023 Oct 16 doi: 10.1002/1878-0261.13525. PMID: 37716913Free PMC Article
McCartney DL, Min JL, Richmond RC, Lu AT, Sobczyk MK, Davies G, Broer L, Guo X, Jeong A, Jung J, Kasela S, Katrinli S, Kuo PL, Matias-Garcia PR, Mishra PP, Nygaard M, Palviainen T, Patki A, Raffield LM, Ratliff SM, Richardson TG, Robinson O, Soerensen M, Sun D, Tsai PC, van der Zee MD, Walker RM, Wang X, Wang Y, Xia R, Xu Z, Yao J, Zhao W, Correa A, Boerwinkle E, Dugué PA, Durda P, Elliott HR, Gieger C; Genetics of DNA Methylation Consortium, de Geus EJC, Harris SE, Hemani G, Imboden M, Kähönen M, Kardia SLR, Kresovich JK, Li S, Lunetta KL, Mangino M, Mason D, McIntosh AM, Mengel-From J, Moore AZ, Murabito JM; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Ollikainen M, Pankow JS, Pedersen NL, Peters A, Polidoro S, Porteous DJ, Raitakari O, Rich SS, Sandler DP, Sillanpää E, Smith AK, Southey MC, Strauch K, Tiwari H, Tanaka T, Tillin T, Uitterlinden AG, Van Den Berg DJ, van Dongen J, Wilson JG, Wright J, Yet I, Arnett D, Bandinelli S, Bell JT, Binder AM, Boomsma DI, Chen W, Christensen K, Conneely KN, Elliott P, Ferrucci L, Fornage M, Hägg S, Hayward C, Irvin M, Kaprio J, Lawlor DA, Lehtimäki T, Lohoff FW, Milani L, Milne RL, Probst-Hensch N, Reiner AP, Ritz B, Rotter JI, Smith JA, Taylor JA, van Meurs JBJ, Vineis P, Waldenberger M, Deary IJ, Relton CL, Horvath S, Marioni RE
Genome Biol 2021 Jun 29;22(1):194. doi: 10.1186/s13059-021-02398-9. PMID: 34187551Free PMC Article
Levine JA, Oleaga C, Eren M, Amaral AP, Shang M, Lux E, Khan SS, Shah SJ, Omura Y, Pamir N, Hay J, Barish G, Miyata T, Tavori H, Fazio S, Vaughan DE
Sci Rep 2021 Jan 11;11(1):430. doi: 10.1038/s41598-020-79948-x. PMID: 33432099Free PMC Article
Jin H, Xu Y, Qi Y, Wang X, Patel DK, Deb Dutta S, Chen R, Lim KT
IEEE Trans Nanobioscience 2020 Jul;19(3):446-456. doi: 10.1109/TNB.2020.2984551. PMID: 32603295
Garcia V, Park EJ, Siragusa M, Frohlich F, Mahfuzul Haque M, Pascale JV, Heberlein KR, Isakson BE, Stuehr DJ, Sessa WC
Proc Natl Acad Sci U S A 2020 Apr 28;117(17):9497-9507. Epub 2020 Apr 16 doi: 10.1073/pnas.1918761117. PMID: 32300005Free 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...