Scott Syndrome

Also Known As:

Bleeding Abnormality due to Deficiency of Platelet Binding of Factor X; Prothrombin Consumption Deficiency; Prothrombin Consumption Inhibitor, Familial; Prothrombin Conversion Defect, Familial

Networked: 69 relevant articles (2 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Blood Coagulation Disorders: 167
    - Scott Syndrome: 69

Related Diseases

1.	Thrombosis (Thrombus)
2.	Wiskott-Aldrich Syndrome
3.	Thrombocytopenia (Thrombopenia)
4.	Hemophilia B (Haemophilia B)
5.	Hemorrhage

Experts

1.	Heemskerk, Johan W M: 9 articles (11/2016 - 04/2003)
2.	Collins, Peter W: 9 articles (10/2016 - 04/2003)
3.	Bevers, Edouard M: 8 articles (03/2014 - 04/2003)
4.	Kunzelmann, Karl: 5 articles (12/2019 - 03/2014)
5.	Cosemans, Judith M E M: 5 articles (10/2016 - 05/2013)
6.	Mattheij, Nadine J A: 5 articles (10/2016 - 03/2013)
7.	Swieringa, Frauke: 4 articles (11/2016 - 03/2013)
8.	Schreiber, Rainer: 3 articles (02/2016 - 03/2014)
9.	van Kruchten, Roger: 3 articles (02/2016 - 03/2013)
10.	Comfurius, Paul: 3 articles (10/2006 - 04/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Scott Syndrome:

1.	Phospholipids (Phosphatides)FDA LinkGeneric 01/01/2006 - "ABCA1 mutations are involved in dysregulated vesicular trafficking from the trans golgi compartment to the plasma membrane, and ABCA1 R1925Q was shown to contribute to Scott syndrome, a phospholipid-processing disorder of missing surface exposure of phosphatidlyserine. " 12/01/1997 - "Our results provide the first insight that the lack of expression of procoagulant phospholipids and microparticle formation in Scott syndrome platelets is associated with a defect of intracellular signalling." 09/01/1995 - "Elevation of cytoplasmic Ca2+ levels in human erythrocytes induces a progressive loss of membrane phospholipid asymmetry, a process that is impaired in erythrocytes from a patient with Scott syndrome. " 01/01/2020 - "TMEM16F-mediated phospholipid scrambling on platelet membranes is critical for hemostasis and thrombosis, which plays an important role in Scott syndrome and has been confirmed by much research. " 01/01/2015 - "Defective Ano6 underlies the Scott syndrome, an inherited bleeding disorder with impaired scrambling of plasma membrane phospholipids. "
2.	LipidsIBA 07/02/2010 - "Observations on cells from patients with Scott syndrome, a rare hereditary bleeding disorder resulting from impaired lipid scrambling, have shown that there are multiple activation pathways that converge on scramblase activity." 08/18/1999 - "In this article, each of these transporters will be discussed, and their physiological importance will be illustrated by the Scott syndrome, a bleeding disorder caused by impaired lipid scrambling. " 01/01/1998 - "Defective regulation of transbilayer lipid distribution may result in clinical manifestations such as in the Scott syndrome, a bleeding disorder caused by an impaired scramblase activity. " 03/22/2004 - "The functional aberrations observed in Scott syndrome have increased our understanding of transmembrane lipid movements, and may help to identify the molecular elements that promote the collapse of phospholipid asymmetry during cell activation and apoptosis." 03/15/1998 - "Impaired Ca2+-induced tyrosine phosphorylation and defective lipid scrambling in erythrocytes from a patient with Scott syndrome: a study using an inhibitor for scramblase that mimics the defect in Scott syndrome."
3.	FibrinIBA 07/01/2009 - "Absence of platelet-dependent fibrin formation in a patient with Scott syndrome." 11/01/2016 - "Reflecting Scott syndrome, platelets from the knockout mouse had a significant reduction in procoagulant characteristics that altered thrombin and fibrin generation kinetics. " 04/01/2016 - "Studies with blood from patients with distinct hemostatic insufficiencies indicated an impairment in the formation of a platelet-fibrin thrombus in the cases of dilutional coagulopathy, thrombocytopenia, Scott syndrome, and hemophilia B. " 10/01/1986 - "Fibrin deposition was markedly diminished in a patient with Scott syndrome whose platelets have a diminished capacity to bind Factor Xa and activate Factors IX and II. In glycoprotein IIb-IIIa deficiency, fibrin deposition was normal (or somewhat increased), whereas in glycoprotein Ib deficiency the association of fibrin with platelets, but not subendothelium, was decreased. "
4.	Thrombin FDA Link 08/01/1998 - "Platelets play a major role in blood coagulation, and in Scott syndrome, there is an abnormality in platelet contribution to the mechanisms leading to thrombin generation. " 01/01/2012 - "Scott syndrome is a rare bleeding disorder due to an impaired exposure of phosphatidilserine on the platelet membrane, compromising the platelet procoagulant activity, thrombin generation and, thus, the clot formation. " 07/01/2009 - "To gain insight into the contribution of platelet-dependent thrombin formation in haemostasis and thrombosis, we investigated under flow conditions the haemostatic functions of platelets from a patient with Scott syndrome. " 11/01/2016 - "Reflecting Scott syndrome, platelets from the knockout mouse had a significant reduction in procoagulant characteristics that altered thrombin and fibrin generation kinetics. " 04/09/2013 - "Transmembrane protein-16F (TMEM-16F), the protein mutated in Scott syndrome, was required for PE/PS externalization during thrombin activation and energy depletion, but not apoptosis. "
5.	Proteins (Proteins, Gene)FDA Link 07/01/2002 - "Subproteomics analysis of phosphorylated proteins: application to the study of B-lymphoblasts from a patient with Scott syndrome." 08/01/2005 - "Finally, defects involving surface receptors (P2Y(12), TPalpha) for activating stimuli, of proteins essential for signaling pathways (including Wiskott-Aldrich syndrome), and of platelet-derived procoagulant activity (Scott syndrome) show how studies on platelet disorders are helping unravel the pathways of primary hemostasis." 12/01/1997 - "Aminophospholipid exposure, microvesiculation and abnormal protein tyrosine phosphorylation in the platelets of a patient with Scott syndrome: a study using physiologic agonists and local anaesthetics." 04/09/2013 - "Transmembrane protein-16F (TMEM-16F), the protein mutated in Scott syndrome, was required for PE/PS externalization during thrombin activation and energy depletion, but not apoptosis. " 10/01/2011 - "Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome."
6.	Tyrosine (L-Tyrosine)FDA Link 08/03/1999 - "We have studied here the intracellular Ca2+ mobilization and Ca2+ entry involved in tyrosine phosphorylation in Epstein Barr virus (EBV)-infected B cells derived from a patient with Scott syndrome, her daughter, and control subjects. " 03/15/1998 - "Impaired Ca2+-induced tyrosine phosphorylation and defective lipid scrambling in erythrocytes from a patient with Scott syndrome: a study using an inhibitor for scramblase that mimics the defect in Scott syndrome." 12/01/1997 - "Aminophospholipid exposure, microvesiculation and abnormal protein tyrosine phosphorylation in the platelets of a patient with Scott syndrome: a study using physiologic agonists and local anaesthetics."
7.	CalciumIBA 12/23/2019 - "Calcium-dependent ADAM10 activation could not be induced in lymphocytes of patients with Scott syndrome harbouring a missense mutation in ANO6. " 01/02/2015 - "Meanwhile, TMEM16 family members were identified to externalize phosphatidylserine in response to elevated calcium in Scott syndrome platelets, which is critical for activation of the coagulation cascade. " 03/26/2023 - "We applied SLAPSHOT followed by quantitative mass spectrometry-based proteomics analysis to examine the immediate and extensive cell surface expansion and ensuing restorative membrane shedding upon the activation of Scott syndrome-linked TMEM16F, a ubiquitously expressed calcium-dependent phospholipid scramblase and ion channel. " 10/01/2011 - "Despite considerable efforts, the platelet scramblase protein remained elusive for years but a significant advance has recently been made with the identification of TMEM16F, a membrane protein essential for calcium-dependent PS exposure whose loss of function mutations are found in Scott syndrome. " 09/01/1995 - "The complex of phosphatidylinositol 4,5-bisphosphate and calcium ions is not responsible for Ca2+-induced loss of phospholipid asymmetry in the human erythrocyte: a study in Scott syndrome, a disorder of calcium-induced phospholipid scrambling."
8.	Phosphatidylinositols (Phosphatidylinositol)IBA 09/01/1995 - "The complex of phosphatidylinositol 4,5-bisphosphate and calcium ions is not responsible for Ca2+-induced loss of phospholipid asymmetry in the human erythrocyte: a study in Scott syndrome, a disorder of calcium-induced phospholipid scrambling."
9.	IonsIBA 09/01/1995 - "The complex of phosphatidylinositol 4,5-bisphosphate and calcium ions is not responsible for Ca2+-induced loss of phospholipid asymmetry in the human erythrocyte: a study in Scott syndrome, a disorder of calcium-induced phospholipid scrambling."
10.	Hemostatics (Antihemorrhagics)IBA 04/01/2016 - "Studies with blood from patients with distinct hemostatic insufficiencies indicated an impairment in the formation of a platelet-fibrin thrombus in the cases of dilutional coagulopathy, thrombocytopenia, Scott syndrome, and hemophilia B. "

Therapies and Procedures

1.	Therapeutics 03/01/1997 - "In addition, the study provides further support for the concept that the development of agents that could induce a Scott syndrome defect in normal platelets may provide a new approach to antithrombotic therapy."