SCTS
MCID: SCT005
MIFTS: 48

Scott Syndrome (SCTS)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Scott Syndrome

MalaCards integrated aliases for Scott Syndrome:

Name: Scott Syndrome 57 12 75 53 59 74 37 29 13 55 6 44 15 40 72
Prothrombin Consumption Deficiency 57 12 74
Bdplt7 57 12 74
Scts 57 12 74
Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor X 57 74
Bleeding Abnormality Due to Deficiency of Platelet Biding of Factor X 12
Bleeding Disorder, Platelet-Type, 7; Bdplt7 57
Prothrombin Consumption Inhibitor, Familial 57
Familial Prothrombin Consumption Inhibitor 12
Prothrombin Consumption Inhibitor Familial 74
Prothrombin Conversion Defect, Familial 57
Familial Prothrombin Conversion Defect 12
Prothrombin Conversion Defect Familial 74
Platelet Factor X Receptor Deficiency 53
Bleeding Disorder, Platelet-Type, 7 57
Platelet-Type Bleeding Disorder 7 12
Bleeding Disorder Platelet-Type 7 74

Characteristics:

Orphanet epidemiological data:

59
scott syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
scott syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111052
KEGG 37 H01162
ICD10 via Orphanet 34 D69.8
UMLS via Orphanet 73 C0796149
Orphanet 59 ORPHA806
MedGen 42 C0796149
UMLS 72 C0796149

Summaries for Scott Syndrome

KEGG : 37
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 aarskog-scott syndrome and unilateral focal polymicrogyria. An important gene associated with Scott Syndrome is ANO6 (Anoctamin 6), and among its related pathways/superpathways are Ion channel transport and Warfarin Pathway, Pharmacodynamics. The drugs Nicotine and Bupropion have been mentioned in the context of this disorder. Affiliated tissues include testes, spinal cord and testis, 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 : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 806DefinitionScott 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 : 57 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 : 74 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 : 75 Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism... more...

Related Diseases for Scott Syndrome

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

(show top 50) (show all 371)
# Related Disease Score Top Affiliating Genes
1 aarskog-scott syndrome 34.8 FGD1 ARHGEF2
2 unilateral focal polymicrogyria 30.4 FGD1 ARHGEF2
3 factor x deficiency 29.8 F2 F10
4 stormorken syndrome 29.6 F2 COX5A
5 spondylocarpotarsal synostosis syndrome 12.2
6 desbuquois dysplasia 2 11.6
7 sacrococcygeal teratoma 11.5
8 chediak-higashi syndrome 11.5
9 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 11.4
10 pelvic hypoplasia with lower-limb arthrogryposis 11.3
11 epiphyseal dysplasia hearing loss dysmorphism 11.3
12 larsen syndrome 11.2
13 acute graft versus host disease 10.7
14 myeloma, multiple 10.6
15 myelodysplastic syndrome 10.5
16 mucositis 10.5
17 neutropenia 10.4
18 graft-versus-host disease 10.4
19 hepatic infarction 10.4 FGD1 F2
20 leech infestation 10.4 F2 F10
21 prothrombin deficiency, congenital 10.4 F2 F10
22 acute leukemia 10.4
23 inherited blood coagulation disease 10.3 F2 ANO6
24 antithrombin iii deficiency 10.3 F2 F10
25 aplastic anemia 10.3
26 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.3
27 hematopoietic stem cell transplantation 10.3
28 pulmonary artery disease 10.3 F2 F10
29 leukemia, acute lymphoblastic 10.3
30 lymphocytic leukemia 10.3
31 lymphoma, hodgkin, classic 10.3
32 hemophilia b 10.3 F2 F10
33 lymphoma 10.3
34 b-cell lymphoma 10.3
35 amyloidosis 10.3
36 autoimmune disease 10.3
37 aspergillosis 10.3
38 bronchiolitis obliterans 10.3
39 bronchiolitis 10.3
40 factor vii deficiency 10.3 F2 F10
41 leukemia, acute myeloid 10.3
42 leukemia 10.3
43 al amyloidosis 10.3
44 thrombophilia due to activated protein c resistance 10.2 F2 F10
45 thrombocytopenia 10.2
46 myeloid leukemia 10.2
47 afibrinogenemia 10.2 F2 F10
48 chronic graft versus host disease 10.2
49 post-transplant lymphoproliferative disease 10.2
50 lymphoproliferative syndrome 10.2

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



Diseases related to Scott Syndrome

Symptoms & Phenotypes for Scott Syndrome

Human phenotypes related to Scott Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 32 HP:0001892
2 factor x activation deficiency 32 HP:0008354

Symptoms via clinical synopsis from OMIM:

57
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

Drugs & Therapeutics for Scott Syndrome

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

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

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 Extra Corporeal Membrane Oxygenation in the Acute Respiratory Distress Syndrome: Utility of a Biomarker to Assess the Membrane Efficiency in Improving Oxygenation Completed NCT02879344
5 The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy Recruiting NCT03396562
6 Do Script Concordance Tests Correlate With Family Medicine Standardized Tests and Failing Rotation Grades? Recruiting NCT03938610
7 Effectiveness of the Hepatitis B Vaccine Post-Hematopoietic Stem Cell Transplant Enrolling by invitation NCT03511794
8 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

Genetic Tests for Scott Syndrome

Genetic tests related to Scott Syndrome:

# Genetic test Affiliating Genes
1 Scott Syndrome 29 ANO6

Anatomical Context for Scott Syndrome

MalaCards organs/tissues related to Scott Syndrome:

41
Testes, Spinal Cord, Testis, T Cells, Prostate, Pancreas, Myeloid

Publications for Scott Syndrome

Articles related to Scott Syndrome:

(show top 50) (show all 516)
# Title Authors PMID Year
1
Calcium-dependent phospholipid scrambling by TMEM16F. 38 8 71
21107324 2010
2
Production and characterization of transformed B-lymphocytes expressing the membrane defect of Scott syndrome. 38 8 71
7989579 1994
3
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. 9 38 8
15790791 2005
4
Store-mediated calcium entry in the regulation of phosphatidylserine exposure in blood cells from Scott patients. 38 8
12669124 2003
5
A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity. 38 8
11895776 2002
6
Scott syndrome erythrocytes contain a membrane protein capable of mediating Ca2+-dependent transbilayer migration of membrane phospholipids. 38 8
9151796 1997
7
Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder. 38 8
8608230 1996
8
Scott syndrome: a disorder of platelet coagulant activity. 38 8
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. 38 8
2547839 1989
10
Isolation of an erythrocyte membrane protein that mediates Ca2+-dependent transbilayer movement of phospholipid. 8
8663431 1996
11
Impaired factor X and prothrombin activation associated with decreased phospholipid exposure in platelets from a patient with a bleeding disorder. 8
3995186 1985
12
Familial haemostatic defect associated with reduced prothrombin consumption. 8
7378303 1980
13
Deficiency of factor Xa-factor Va binding sites on the platelets of a patient with a bleeding disorder. 8
497393 1979
14
Isolated deficiency of platelet procoagulant activity. 8
572637 1979
15
Properties of the factor Xa binding site on human platelets. 8
690132 1978
16
Interaction of coagulation factor Xa with human platelets. 8
333455 1977
17
An atypical genetic haemorrhagic disease with increased concentration of a natural inhibitor of prothrombin consumption. 8
6029953 1967
18
Impaired platelet procoagulant mechanisms in patients with bleeding disorders. 9 38
19408196 2009
19
Molecular defects in the ABCA1 pathway affect platelet function. 9 38
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. 9 38
11421293 2001
21
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. 9 38
9057642 1997
22
Characterization of a novel bleeding disorder with isolated prolonged bleeding time and deficiency of platelet microvesicle generation. 9 38
9054648 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. 9 38
1730083 1992
24
Differentiating presacral masses in anorectal malformations and isolated sacrococcygeal teratomas. 38
31256295 2019
25
Adult sacrococcygeal teratoma: a retrospective study over eight years at a single institution. 38
31273964 2019
26
Social Cognitive Theories and Electronic Health Design: Scoping Review. 38
31325290 2019
27
Renal denervation in the management of hypertension: A meta-analysis of sham-controlled trials. 38
31420197 2019
28
Deep learning approaches using 2D and 3D convolutional neural networks for generating male pelvic synthetic computed tomography from magnetic resonance imaging. 38
31220353 2019
29
Structure and function of the Fgd family of divergent FYVE domain proteins 1. 38
30308128 2019
30
How to Peddle Hope: An Analysis of YouTube Patient Testimonials of Unproven Stem Cell Treatments. 38
31189092 2019
31
Dosimetric evaluation of synthetic CT for head and neck radiotherapy generated by a patch-based three-dimensional convolutional neural network. 38
31206701 2019
32
The inner rod of virulence-associated type III secretion systems constitutes a needle adapter of one helical turn that is deeply integrated into the system's export apparatus. 38
31183905 2019
33
The Structure of an Injectisome Export Gate Demonstrates Conservation of Architecture in the Core Export Gate between Flagellar and Virulence Type III Secretion Systems. 38
31239376 2019
34
Distribution of scleral thickness and associated factors in 810 Chinese children and adolescents: a swept-source optical coherence tomography study. 38
30178606 2019
35
HLA-DP mismatch and CMV reactivation increase risk of aGVHD independently in recipients of allogeneic stem cell transplant. 38
30683577 2019
36
Clinicopathologic Features and Chromosome 12p Status of Pediatric Sacrococcygeal Teratomas: A Multi-institutional Analysis. 38
30176765 2019
37
Genomic Features of Metastatic Testicular Sex Cord Stromal Tumors. 38
31147264 2019
38
[Second Survey on Patient-centred Care of Ocular Graft-versus-Host Disease in Germany]. 38
31075805 2019
39
Applying a commercial atlas-based synthetic Computed Tomography algorithm to patients with hip prostheses for prostate Magnetic Resonance-only radiotherapy. 38
30935564 2019
40
Use of the Smartphone App WhatsApp as an E-Learning Method for Medical Residents: Multicenter Controlled Randomized Trial. 38
30964435 2019
41
Salvage Haploidentical Transplantation Using Low-dose ATG for Early Disease Relapse after First Allogeneic Transplantation: A Retrospective Single-center Review. 38
31015751 2019
42
Chitosan sulfate inhibits angiogenesis via blocking the VEGF/VEGFR2 pathway and suppresses tumor growth in vivo. 38
30694269 2019
43
A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47, XYY). 38
30689602 2019
44
Economic Evaluation of Stem Cell Therapies in Neurological Diseases: A Systematic Review. 38
30711072 2019
45
Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immune Deficiency Disorders in Children: Challenges and Outcome from a Tertiary Care Center in South India. 38
30778805 2019
46
ADAM10 sheddase activation is controlled by cell membrane asymmetry. 38
30753537 2019
47
Feasibility of MRI-only photon and proton dose calculations for pediatric patients with abdominal tumors. 38
30669135 2019
48
Metastatic testicular Sertoli cell tumor in a free-ranging cryptorchid adult spotted seal Phoca largha in North Slope, Alaska, USA. 38
30997879 2019
49
Laparoscopic Division of Median Sacral Artery and Dissection of Types III and IV Sacrococcygeal Teratomas to Decrease Intraoperative Hemorrhagic Complications: Case Series and Review of the Literature. 38
30351221 2019
50
Dose evaluation of MRI-based synthetic CT generated using a machine learning method for prostate cancer radiotherapy. 38
30713000 2019

Variations for Scott Syndrome

ClinVar genetic disease variations for Scott Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ANO6 ANO6, IVS12AS, G-T, -1 single nucleotide variant Pathogenic

Expression for Scott Syndrome

Search GEO for disease gene expression data for Scott Syndrome.

Pathways for Scott Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.63 ANO6 ANO2 ANO10
2 9.8 F2 F10

GO Terms for Scott Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.23 PTPN3 F2 F10 ARHGEF2 ANO6 ANO2
2 chloride channel complex GO:0034707 8.96 ANO6 ANO2

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.5 FGD1 ARHGEF2 ANO6
2 ion transmembrane transport GO:0034220 9.33 ANO6 ANO2 ANO10
3 hemostasis GO:0007599 9.26 F2 F10
4 blood coagulation GO:0007596 9.13 F2 F10 ANO6
5 chloride transport GO:0006821 8.8 ANO6 ANO2 ANO10

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

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.26 ANO6 ANO2
2 small GTPase binding GO:0031267 9.16 FGD1 ABCA1
3 calcium activated cation channel activity GO:0005227 8.96 ANO6 ANO10
4 intracellular calcium activated chloride channel activity GO:0005229 8.8 ANO6 ANO2 ANO10

Sources for Scott Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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