General Information of Disease (ID: DISORLOT)

Disease Name Protein S deficiency
Synonyms Protein S deficiency disease; Protein S deficiency
Definition
Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.|Editor note: TODO axiomatize
Disease Hierarchy
DISQR7U7: Thrombophilia
DISORLOT: Protein S deficiency
Disease Identifiers
MONDO ID
MONDO_0002304
MESH ID
D018455
UMLS CUI
C0242666
MedGen ID
69229
SNOMED CT ID
1563006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PROC TTZUXYS moderate Biomarker [1]
F5 TT1O264 Strong Genetic Variation [2]
SERPINC1 TT4QPUL Strong Genetic Variation [3]
TFPI TT068JH Definitive Altered Expression [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PSD OTUZIXUZ moderate Biomarker [5]
C4BPB OTJ70B0K Strong Genetic Variation [6]
COX8A OTU0NR39 Strong Altered Expression [7]
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References

1 Maternal and paternal thrombophilia: risk factors for perinatal mortality.BJOG. 2005 Mar;112(3):306-11. doi: 10.1111/j.1471-0528.2004.00435.x.
2 Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta-Analysis.J Am Heart Assoc. 2019 Oct;8(19):e012877. doi: 10.1161/JAHA.119.012877. Epub 2019 Sep 24.
3 Oral contraception in women with mild thrombophilia: what have we learned recently?.Thromb Res. 2012 Oct;130 Suppl 1:S16-8. doi: 10.1016/j.thromres.2012.08.263.
4 Decreased tissue factor pathway inhibitor (TFPI)-dependent anticoagulant capacity in patients with cirrhosis who have decreased protein S but normal TFPI plasma levels.Br J Haematol. 2013 Sep;162(6):819-26. doi: 10.1111/bjh.12462. Epub 2013 Jul 11.
5 Role of protein S deficiency in children with venous thromboembolism. An observational international cohort study.Thromb Haemost. 2015 Feb;113(2):426-33. doi: 10.1160/TH14-06-0533. Epub 2014 Oct 2.
6 Lack of sequence variations in the C4b-BP beta-chain in patients with type III protein S deficiency bearing the Ser 460 to Pro mutation: description of two new intragenic isomorphisms in the C4b-BP beta-chain gene (C4BPB).Br J Haematol. 1998 Apr;101(1):10-5. doi: 10.1046/j.1365-2141.1998.00646.x.
7 Pulmonary embolism and in situ pulmonary artery thrombosis in paediatrics. A systematic review.Thromb Haemost. 2017 Jun 2;117(6):1199-1207. doi: 10.1160/TH16-07-0529. Epub 2017 Mar 23.