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SCTS
MCID: SCT005
MIFTS: 49

Scott Syndrome (SCTS)

Categories: Blood diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Scott Syndrome

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MalaCards integrated aliases for Scott Syndrome:

Name: Scott Syndrome 56 12 74 52 58 73 36 29 13 54 6 43 15 39 71
Prothrombin Consumption Deficiency 56 12 73
Bdplt7 56 12 73
Scts 56 12 73
Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor X 56 73
Bleeding Abnormality Due to Deficiency of Platelet Biding of Factor X 12
Bleeding Disorder, Platelet-Type, 7; Bdplt7 56
Prothrombin Consumption Inhibitor, Familial 56
Familial Prothrombin Consumption Inhibitor 12
Prothrombin Consumption Inhibitor Familial 73
Prothrombin Conversion Defect, Familial 56
Familial Prothrombin Conversion Defect 12
Prothrombin Conversion Defect Familial 73
Platelet Factor X Receptor Deficiency 52
Bleeding Disorder, Platelet-Type, 7 56
Platelet-Type Bleeding Disorder 7 12
Bleeding Disorder Platelet-Type 7 73

Characteristics:

Orphanet epidemiological data:

58
scott syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
scott syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111052
OMIM 56 262890
OMIM Phenotypic Series 56 PS231200
KEGG 36 H01162
SNOMED-CT 67 128098009
ICD10 via Orphanet 33 D69.8
UMLS via Orphanet 72 C0796149
Orphanet 58 ORPHA806
MedGen 41 C0796149
SNOMED-CT via HPO 68 248250000 258211005 64779008
UMLS 71 C0796149
Sources

Summaries for Scott Syndrome

About this section
KEGG : 36 Scott syndrome is a rare autosomal recessive congenital bleeding disorder caused by a defect in blood coagulation. When platelets are activated, a calcium-induced rearrangement of the platelet membrane phospholipids takes place, exposing negatively charged phosphatidylserine (PS) at the outer surface of the platelets, where it can anchor coagulation factors. This phenomenon is mediated by lipid scramblase. In patients with Scott syndrome this mechanism is defective, resulting in impaired blood clotting. A mutation in the gene encoding scramblase TMEM16F has been found.

MalaCards based summary : Scott Syndrome, also known as prothrombin consumption deficiency, is related to factor x deficiency and aarskog-scott syndrome. An important gene associated with Scott Syndrome is ANO6 (Anoctamin 6), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. The drugs Nicotine and Varenicline have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and spinal cord, and related phenotypes are abnormal bleeding and factor x activation deficiency

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has material basis in homozygous mutation in the TMEM16F gene on chromosome 12q12.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 806 Definition Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity. Visit the Orphanet disease page for more resources.

OMIM : 56 Scott syndrome is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents (Munnix et al., 2003). (262890)

UniProtKB/Swiss-Prot : 73 Scott syndrome: A mild bleeding disorder due to impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents.

Wikipedia : 74 Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism... more...

Sources

Related Diseases for Scott Syndrome

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Diseases related to Scott Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 369)
# Related Disease Score Top Affiliating Genes
1 factor x deficiency 30.0 F2 F10
2 aarskog-scott syndrome 12.9
3 spondylocarpotarsal synostosis syndrome 12.2
4 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 11.9
5 desbuquois dysplasia 2 11.7
6 sacrococcygeal teratoma 11.5
7 chediak-higashi syndrome 11.5
8 pelvic hypoplasia with lower-limb arthrogryposis 11.3
9 epiphyseal dysplasia hearing loss dysmorphism 11.3
10 larsen syndrome 11.2
11 acute graft versus host disease 10.8
12 myeloma, multiple 10.6
13 myelodysplastic syndrome 10.5
14 mucositis 10.5
15 neutropenia 10.4
16 graft-versus-host disease 10.4
17 prothrombin deficiency 10.4 F2 F10
18 acute leukemia 10.4
19 prothrombin deficiency, congenital 10.4 F2 F10
20 leukemia, acute lymphoblastic 10.3
21 aplastic anemia 10.3
22 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.3
23 lymphoma, hodgkin, classic 10.3
24 myeloid leukemia 10.3
25 hemarthrosis 10.3 F2 F10
26 leukemia, acute myeloid 10.3
27 lymphoma 10.3
28 b-cell lymphoma 10.3
29 amyloidosis 10.3
30 inherited blood coagulation disease 10.3 F2 F10 ANO6
31 autoimmune disease 10.3
32 aspergillosis 10.3
33 bronchiolitis obliterans 10.3
34 bronchiolitis 10.3
35 thrombophilia due to thrombin defect 10.3 TNXA F2 F10
36 leukemia 10.3
37 al amyloidosis 10.3
38 thrombophilia 10.3 TNXA F2 F10
39 intracranial thrombosis 10.2 F2 F10
40 chronic graft versus host disease 10.2
41 post-transplant lymphoproliferative disease 10.2
42 gastric hemangioma 10.2 F2 ANO1
43 pulmonary embolism 10.2 TNXA F2 F10
44 lymphoproliferative syndrome 10.2
45 hepatic veno-occlusive disease 10.2
46 thrombophilia due to activated protein c resistance 10.2 F2 F10
47 diffuse large b-cell lymphoma 10.2
48 thalassemia 10.2
49 active peptic ulcer disease 10.2 F2 ANO1
50 spinocerebellar ataxia, autosomal recessive 10 10.1 ANO6 ANO3 ANO10

Graphical network of the top 20 diseases related to Scott Syndrome:



Diseases related to Scott Syndrome
Sources

Symptoms & Phenotypes for Scott Syndrome

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Human phenotypes related to Scott Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 31 HP:0001892
2 factor x activation deficiency 31 HP:0008354

Symptoms via clinical synopsis from OMIM:

56
Lab:
factor x activation deficiency
platelet receptor deficiency
prothrombin activation deficiency
defect in stimulated platelet capacity to expose surface phosphatidylserine
impaired factor viiia binding

Heme:
hemorrhagic diathesis

Clinical features from OMIM:

262890
Sources

Drugs & Therapeutics for Scott Syndrome

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Drugs for Scott Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved Phase 4 54-11-5 942 89594
2
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
3
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
4
Testosterone Approved, Experimental, Investigational 58-22-0, 481-30-1 10204 6013
5
Thrombin Approved, Investigational
6 Astragalus
7 Liver Extracts
8 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pragmatic, Randomized, Controlled Study Evaluating The Impact Of Access To Smoking Cessation Treatment Reimbursement On The Proportion Of Successful Quitters In A Canadian Population Of Smokers Motivated To Quit Completed NCT00818207 Phase 4
2 Pilot Test of a Cessation Intervention for Waterpipe Smokers Completed NCT01135173 Phase 1
3 Genetic Disease Gene Identification Unknown status NCT00916903
4 Clinical Validation of the Use of Global Coagulation Tests Like Thromboelastography and Sonoclot in Liver Disease - A Prospective Observational Study. Completed NCT04332484
5 Extra Corporeal Membrane Oxygenation in the Acute Respiratory Distress Syndrome: Utility of a Biomarker to Assess the Membrane Efficiency in Improving Oxygenation Completed NCT02879344
6 The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy Recruiting NCT03396562
7 Do Script Concordance Tests Correlate With Family Medicine Standardized Tests and Failing Rotation Grades? Recruiting NCT03938610
8 Allogeneic Stem Cell Transplantation (ALLO-SCT) in Elderly: 17-years Retrospective GITMO Survey Recruiting NCT04386928
9 Effectiveness of the Hepatitis B Vaccine Post-Hematopoietic Stem Cell Transplant Enrolling by invitation NCT03511794
10 Defect in Cell Stimulation and Unexplained hemorrhagesMarkers Related to Membrane Remodelling in the Prognosis Scott-like Syndormes Terminated NCT00617721

Search NIH Clinical Center for Scott Syndrome

Cochrane evidence based reviews: scott syndrome

Sources

Genetic Tests for Scott Syndrome

About this section

Genetic tests related to Scott Syndrome:

# Genetic test Affiliating Genes
1 Scott Syndrome 29 ANO6
Sources

Anatomical Context for Scott Syndrome

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MalaCards organs/tissues related to Scott Syndrome:

40
Testes, Liver, Spinal Cord, Testis, T Cells, Pancreas, Prostate
Sources

Publications for Scott Syndrome

About this section

Articles related to Scott Syndrome:

(show top 50) (show all 549)
# Title Authors PMID Year
1
Calcium-dependent phospholipid scrambling by TMEM16F. 6 56 61
21107324 2010
2
Production and characterization of transformed B-lymphocytes expressing the membrane defect of Scott syndrome. 61 6 56
7989579 1994
3
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. 56 54 61
15790791 2005
4
Store-mediated calcium entry in the regulation of phosphatidylserine exposure in blood cells from Scott patients. 56 61
12669124 2003
5
A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity. 56 61
11895776 2002
6
Scott syndrome erythrocytes contain a membrane protein capable of mediating Ca2+-dependent transbilayer migration of membrane phospholipids. 56 61
9151796 1997
7
Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder. 56 61
8608230 1996
8
Scott syndrome: a disorder of platelet coagulant activity. 56 61
7831576 1994
9
Platelet receptor-mediated factor X activation by factor IXa. High-affinity factor IXa receptors induced by factor VIII are deficient on platelets in Scott syndrome. 56 61
2547839 1989
10
Isolation of an erythrocyte membrane protein that mediates Ca2+-dependent transbilayer movement of phospholipid. 56
8663431 1996
11
Impaired factor X and prothrombin activation associated with decreased phospholipid exposure in platelets from a patient with a bleeding disorder. 56
3995186 1985
12
Familial haemostatic defect associated with reduced prothrombin consumption. 56
7378303 1980
13
Deficiency of factor Xa-factor Va binding sites on the platelets of a patient with a bleeding disorder. 56
497393 1979
14
Isolated deficiency of platelet procoagulant activity. 56
572637 1979
15
Properties of the factor Xa binding site on human platelets. 56
690132 1978
16
Interaction of coagulation factor Xa with human platelets. 56
333455 1977
17
An atypical genetic haemorrhagic disease with increased concentration of a natural inhibitor of prothrombin consumption. 56
6029953 1967
18
Impaired platelet procoagulant mechanisms in patients with bleeding disorders. 61 54
19408196 2009
19
Molecular defects in the ABCA1 pathway affect platelet function. 61 54
16855366 2006
20
Platelet factor V New York: a defect in factor V distinct from that in factor V Quebec resulting in impaired prothrombinase generation. 61 54
11421293 2001
21
Characterization of a novel bleeding disorder with isolated prolonged bleeding time and deficiency of platelet microvesicle generation. 54 61
9054648 1997
22
Platelet prothrombinase activity and intracellular calcium responses in patients with storage pool deficiency, glycoprotein IIb-IIIa deficiency, or impaired platelet coagulant activity--a comparison with Scott syndrome. 54 61
9057642 1997
23
Defective Ca(2+)-induced microvesiculation and deficient expression of procoagulant activity in erythrocytes from a patient with a bleeding disorder: a study of the red blood cells of Scott syndrome. 61 54
1730083 1992
24
Platelet immunophenotyping in health and inherited bleeding disorders, a review and practical hints. 61
32516490 2020
25
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1. 61
32381089 2020
26
Significant rate of lower urinary tract dysfunction in patients with sacrococcygeal teratomas. 61
32563692 2020
27
Racial and Ethnic Disparities in the Inpatient Management of Primary Spinal Cord Tumors. 61
32389874 2020
28
Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy. 61
32452638 2020
29
From Sacrum to Spine: A Complex Case of Sacrococcygeal Teratoma. 61
32457189 2020
30
Investigating conditional GAN performance with different generator architectures, an ensemble model, and different MR scanners for MR-sCT conversion. 61
32235074 2020
31
A novel anthropomorphic multimodality phantom for MRI-based radiotherapy quality assurance testing. 61
31954078 2020
32
Multi-sequence MR image-based synthetic CT generation using a generative adversarial network for head and neck MRI-only radiotherapy. 61
32027027 2020
33
Increased E2F1 mRNA and miR-17-5p Expression Is Correlated to Invasiveness and Proliferation of Pituitary Neuroendocrine Tumours. 61
32316225 2020
34
Ovarian steroid cell tumor as an example of severe hyperandrogenism in 45-year-old woman. 61
31718336 2020
35
Comparison of CBCT based synthetic CT methods suitable for proton dose calculations in adaptive proton therapy. 61
32143207 2020
36
Renal Denervation in the Management of Hypertension: A Meta-Analysis of Sham-Controlled Trials. 61
31420197 2020
37
Cytomegalovirus viremia among pediatric oncology non-stem cell transplant patients with prolonged fever neutropenia. 61
32224110 2020
38
A case report of a recurrent early and late Bioresorbable vascular scaffold thrombosis: serial angiography and optical coherence tomography findings. 61
32204697 2020
39
CBCT-based synthetic CT generation using deep-attention cycleGAN for pancreatic adaptive radiotherapy. 61
32141618 2020
40
Social Cognition Training for People With a Psychotic Disorder: A Network Meta-analysis. 61
32162658 2020
41
Patch-based generative adversarial neural network models for head and neck MR-only planning. 61
31733164 2020
42
Comparison of the outcomes after haploidentical and cord blood salvage transplantations for graft failure following allogeneic hematopoietic stem cell transplantation. 61
32051535 2020
43
Sertoli Cell Tumors of the Testes: Systematic Literature Review and Meta-Analysis of Outcomes in 435 Patients. 61
32043680 2020
44
First Ready, First to Go: Ethical Priority-Setting of Allogeneic Stem Cell Transplant at a Major Cancer Centre. 61
32176614 2020
45
The stressed vascular barrier and coagulation - The impact of key glycocalyx components on in vitro clot formation. 61
31927395 2020
46
On the accuracy of bulk synthetic CT for MR-guided online adaptive radiotherapy. 61
31591701 2020
47
Comparative value of a simulation by gaming and a traditional teaching method to improve clinical reasoning skills necessary to detect patient deterioration: a randomized study in nursing students. 61
32075641 2020
48
Ovarian Steroid Cell Tumor (Not Otherwise Specified): A Case Report of Ovarian Hyperandrogenism. 61
32328328 2020
49
A sieve-conducted two-syringe-based pressurized liquid-phase microextraction for the determination of indium by slotted quartz tube-flame atomic absorption spectrometry. 61
31970566 2020
50
Choroidal thickness and intraocular pressure after 25-gauge and 23-gauge vitrectomy for idiopathic epiretinal membrane. 61
31676995 2020
Sources

Variations for Scott Syndrome

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ClinVar genetic disease variations for Scott Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANO6 ANO6, IVS12AS, G-T, -1SNV Pathogenic 30740
Sources

Expression for Scott Syndrome

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Search GEO for disease gene expression data for Scott Syndrome.
Sources

Pathways for Scott Syndrome

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Pathways related to Scott Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 12.63 ANO9 ANO8 ANO6 ANO3 ANO2 ANO10
2
Ion channel transport 65
Show member pathways
 11.66 ANO9 ANO8 ANO6 ANO3 ANO2 ANO10
3
Warfarin Pathway, Pharmacodynamics 60
10.33 F2 F10
Sources

GO Terms for Scott Syndrome

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Cellular components related to Scott Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.13 XYLT1 XKR8 SCTR PLSCR5 PLSCR4 PLSCR2
2 integral component of membrane GO:0016021 9.8 XYLT1 XKR8 SCTR PLSCR4 PLSCR2 PLSCR1
3 plasma membrane GO:0005886 9.53 XKR8 SCTR PLSCR5 PLSCR4 PLSCR2 PLSCR1
4 chloride channel complex GO:0034707 9.33 ANO6 ANO2 ANO1

Biological processes related to Scott Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.03 ANO9 ANO8 ANO6 ANO3 ANO2 ANO10
2 ion transmembrane transport GO:0034220 9.8 ANO9 ANO8 ANO6 ANO3 ANO2 ANO10
3 lipid transport GO:0006869 9.76 ANO9 ANO6 ANO3 ABCA1
4 cation transport GO:0006812 9.67 ANO6 ANO10 ANO1
5 chloride transport GO:0006821 9.63 ANO9 ANO8 ANO6 ANO2 ANO10 ANO1
6 calcium activated galactosylceramide scrambling GO:0061591 9.58 ANO9 ANO6 ANO3
7 calcium activated phosphatidylcholine scrambling GO:0061590 9.54 ANO9 ANO6 ANO3
8 phospholipid translocation GO:0045332 9.51 ANO6 ABCA1
9 calcium activated phospholipid scrambling GO:0061588 9.5 ANO9 ANO6 ANO3
10 chloride transmembrane transport GO:1902476 9.5 ANO9 ANO8 ANO6 ANO3 ANO2 ANO10
11 calcium activated phosphatidylserine scrambling GO:0061589 9.48 ANO9 ANO6
12 phospholipid scrambling GO:0017121 9.02 PLSCR5 PLSCR4 PLSCR2 PLSCR1 ANO6

Molecular functions related to Scott Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.83 PLSCR4 PLSCR2 PLSCR1 F2 F10
2 protein dimerization activity GO:0046983 9.62 ANO6 ANO3 ANO2 ANO1
3 chloride channel activity GO:0005254 9.55 ANO9 ANO6 ANO3 ANO2 ANO1
4 phospholipid scramblase activity GO:0017128 9.5 PLSCR5 PLSCR4 PLSCR2 PLSCR1 ANO9 ANO6
5 small GTPase binding GO:0031267 9.46 FGD1 ABCA1
6 calcium activated cation channel activity GO:0005227 9.43 ANO6 ANO10 ANO1
7 voltage-gated chloride channel activity GO:0005247 9.4 ANO6 ANO1
8 CD4 receptor binding GO:0042609 9.37 PLSCR4 PLSCR1
9 intracellular calcium activated chloride channel activity GO:0005229 9.17 ANO9 ANO8 ANO6 ANO3 ANO2 ANO10
Sources

Sources for Scott Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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