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Protein S deficiency disease

MedGen UID:
69229
Concept ID:
C0242666
Disease or Syndrome
Synonym: Protein S deficiency
SNOMED CT: Protein S deficiency (1563006); Protein S deficiency disease (1563006)
 
Monarch Initiative: MONDO:0002304

Definition

A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Protein S deficiency disease

Professional guidelines

PubMed

Middeldorp S, Nieuwlaat R, Baumann Kreuziger L, Coppens M, Houghton D, James AH, Lang E, Moll S, Myers T, Bhatt M, Chai-Adisaksopha C, Colunga-Lozano LE, Karam SG, Zhang Y, Wiercioch W, Schünemann HJ, Iorio A
Blood Adv 2023 Nov 28;7(22):7101-7138. doi: 10.1182/bloodadvances.2023010177. PMID: 37195076
Price VE, Ledingham DL, Krümpel A, Chan AK
Semin Fetal Neonatal Med 2011 Dec;16(6):318-22. Epub 2011 Aug 11 doi: 10.1016/j.siny.2011.07.009. PMID: 21839696
Chalmers E, Cooper P, Forman K, Grimley C, Khair K, Minford A, Morgan M, Mumford AD
Arch Dis Child 2011 Nov;96(11):1066-71. Epub 2011 Jan 12 doi: 10.1136/adc.2010.199919. PMID: 21233082

Recent clinical studies

Etiology

Sim MMS, Wood JP
Best Pract Res Clin Haematol 2022 Sep;35(3):101376. Epub 2022 Aug 23 doi: 10.1016/j.beha.2022.101376. PMID: 36494145Free PMC Article
Linnemann B, Hart C
Hamostaseologie 2019 Feb;39(1):49-61. Epub 2019 Jan 31 doi: 10.1055/s-0039-1677840. PMID: 30703819
van Vlijmen EF, Wiewel-Verschueren S, Monster TB, Meijer K
J Thromb Haemost 2016 Jul;14(7):1393-403. Epub 2016 Jun 16 doi: 10.1111/jth.13349. PMID: 27121914
Phillippe HM, Hornsby LB, Treadway S, Armstrong EM, Bellone JM
J Pharm Pract 2014 Jun;27(3):227-33. Epub 2014 Apr 16 doi: 10.1177/0897190014530390. PMID: 24739277
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205

Diagnosis

Chiasakul T, De Jesus E, Tong J, Chen Y, Crowther M, Garcia D, Chai-Adisaksopha C, Messé SR, Cuker A
J Am Heart Assoc 2019 Oct;8(19):e012877. Epub 2019 Sep 24 doi: 10.1161/JAHA.119.012877. PMID: 31549567Free PMC Article
Linnemann B, Hart C
Hamostaseologie 2019 Feb;39(1):49-61. Epub 2019 Jan 31 doi: 10.1055/s-0039-1677840. PMID: 30703819
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205
Hepner M, Karlaftis V
Methods Mol Biol 2013;992:373-81. doi: 10.1007/978-1-62703-339-8_30. PMID: 23546730
Chalmers E, Cooper P, Forman K, Grimley C, Khair K, Minford A, Morgan M, Mumford AD
Arch Dis Child 2011 Nov;96(11):1066-71. Epub 2011 Jan 12 doi: 10.1136/adc.2010.199919. PMID: 21233082

Therapy

Valanejad SM, Davis KA
Ann Pharmacother 2021 Jul;55(7):891-901. Epub 2020 Oct 26 doi: 10.1177/1060028020968551. PMID: 33100017
Linnemann B, Hart C
Hamostaseologie 2019 Feb;39(1):49-61. Epub 2019 Jan 31 doi: 10.1055/s-0039-1677840. PMID: 30703819
van Vlijmen EF, Wiewel-Verschueren S, Monster TB, Meijer K
J Thromb Haemost 2016 Jul;14(7):1393-403. Epub 2016 Jun 16 doi: 10.1111/jth.13349. PMID: 27121914
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205
Chalmers E, Cooper P, Forman K, Grimley C, Khair K, Minford A, Morgan M, Mumford AD
Arch Dis Child 2011 Nov;96(11):1066-71. Epub 2011 Jan 12 doi: 10.1136/adc.2010.199919. PMID: 21233082

Prognosis

Chiasakul T, De Jesus E, Tong J, Chen Y, Crowther M, Garcia D, Chai-Adisaksopha C, Messé SR, Cuker A
J Am Heart Assoc 2019 Oct;8(19):e012877. Epub 2019 Sep 24 doi: 10.1161/JAHA.119.012877. PMID: 31549567Free PMC Article
Ichinose M, Sasagawa N, Chiba T, Toyama K, Kayamori Y, Kang D
BMC Nephrol 2019 May 28;20(1):191. doi: 10.1186/s12882-019-1344-8. PMID: 31138132Free PMC Article
Croles FN, Nasserinejad K, Duvekot JJ, Kruip MJ, Meijer K, Leebeek FW
BMJ 2017 Oct 26;359:j4452. doi: 10.1136/bmj.j4452. PMID: 29074563Free PMC Article
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205
Chalmers E, Cooper P, Forman K, Grimley C, Khair K, Minford A, Morgan M, Mumford AD
Arch Dis Child 2011 Nov;96(11):1066-71. Epub 2011 Jan 12 doi: 10.1136/adc.2010.199919. PMID: 21233082

Clinical prediction guides

Ohya Y, Matsuo R, Sato N, Irie F, Nakamura K, Wakisaka Y, Ago T, Kamouchi M, Kitazono T; Investigators for Fukuoka Stroke Registry
PLoS One 2022;17(7):e0268481. Epub 2022 Jul 13 doi: 10.1371/journal.pone.0268481. PMID: 35830430Free PMC Article
Zöller B, Svensson PJ, Dahlbäck B, Lind-Hallden C, Hallden C, Elf J
Expert Rev Hematol 2020 Sep;13(9):971-981. Epub 2020 Aug 23 doi: 10.1080/17474086.2020.1804354. PMID: 32731838
Croles FN, Nasserinejad K, Duvekot JJ, Kruip MJ, Meijer K, Leebeek FW
BMJ 2017 Oct 26;359:j4452. doi: 10.1136/bmj.j4452. PMID: 29074563Free PMC Article
Hoirisch-Clapauch S, Amaral OB, Mezzasalma MA, Panizzutti R, Nardi AE
Transl Psychiatry 2016 Jan 5;6(1):e704. doi: 10.1038/tp.2015.204. PMID: 26731441Free PMC Article
Wypasek E, Undas A
Adv Clin Exp Med 2013 Jul-Aug;22(4):459-67. PMID: 23986205

Recent systematic reviews

Chiasakul T, De Jesus E, Tong J, Chen Y, Crowther M, Garcia D, Chai-Adisaksopha C, Messé SR, Cuker A
J Am Heart Assoc 2019 Oct;8(19):e012877. Epub 2019 Sep 24 doi: 10.1161/JAHA.119.012877. PMID: 31549567Free PMC Article
Croles FN, Nasserinejad K, Duvekot JJ, Kruip MJ, Meijer K, Leebeek FW
BMJ 2017 Oct 26;359:j4452. doi: 10.1136/bmj.j4452. PMID: 29074563Free PMC Article
van Vlijmen EF, Wiewel-Verschueren S, Monster TB, Meijer K
J Thromb Haemost 2016 Jul;14(7):1393-403. Epub 2016 Jun 16 doi: 10.1111/jth.13349. PMID: 27121914
Haywood S, Liesner R, Pindora S, Ganesan V
Arch Dis Child 2005 Apr;90(4):402-5. doi: 10.1136/adc.2004.049163. PMID: 15781933Free PMC Article
Goodwin AJ, Rosendaal FR, Kottke-Marchant K, Bovill EG
Arch Pathol Lab Med 2002 Nov;126(11):1349-66. doi: 10.5858/2002-126-1349-AROTTD. PMID: 12421142

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