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 74 20 58 73 36 29 13 54 6 44 15 39 71
Prothrombin Consumption Deficiency 57 12 73
Bdplt7 57 12 73
Scts 57 12 73
Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor X 57 73
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 73
Prothrombin Conversion Defect, Familial 57
Familial Prothrombin Conversion Defect 12
Prothrombin Conversion Defect Familial 73
Platelet Factor X Receptor Deficiency 20
Bleeding Disorder, Platelet-Type, 7 57
Platelet-Type Bleeding Disorder 7 12
Bleeding Disorder Platelet-Type 7 73


Orphanet epidemiological data:

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


57 (Updated 05-Mar-2021)
autosomal recessive


scott syndrome:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare haematological diseases

External Ids:

Disease Ontology 12 DOID:0111052
OMIM® 57 262890
OMIM Phenotypic Series 57 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

Summaries for Scott Syndrome

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 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 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 myeloid, t cells and spinal cord, and related phenotypes are abnormal bleeding and factor x activation deficiency

Disease Ontology : 12 A 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.

GARD : 20 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) (Updated 05-Mar-2021)

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...

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 63)
# Related Disease Score Top Affiliating Genes
1 aarskog-scott syndrome 33.0 PLEK FGD1 ARHGEF2
2 unilateral focal polymicrogyria 30.2 FGD1 ARHGEF2
3 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 11.4
4 desbuquois dysplasia 2 11.2
5 pelvic hypoplasia with lower-limb arthrogryposis 11.2
6 epiphyseal dysplasia hearing loss dysmorphism 11.2
7 prothrombin deficiency, congenital 10.3 F2 F10
8 prothrombin deficiency 10.2 F2 F10
9 hemarthrosis 10.2 F2 F10
10 thrombophilia due to thrombin defect 10.2 TNXA F2 F10
11 pulmonary embolism 10.2 TNXA F2 F10
12 gastric hemangioma 10.2 F2 ANO1
13 intracranial thrombosis 10.1 F2 F10
14 active peptic ulcer disease 10.1 F2 ANO1
15 factor v deficiency 10.1 F2 F10
16 blood coagulation disease 10.1 F2 F10 ANO6
17 attention deficit-hyperactivity disorder 10.1
18 brachydactyly 10.1
19 rare hemorrhagic disorder 10.1
20 spinocerebellar ataxia, autosomal recessive 10 10.0 ANO6 ANO3 ANO10
21 noonan syndrome 1 10.0
22 generalized epilepsy with febrile seizures plus 10.0
23 pseudo-turner syndrome 10.0
24 factor x deficiency 10.0 F2 F10
25 arteries, anomalies of 9.9
26 tobacco addiction 9.9
27 smoking as a quantitative trait locus 3 9.9
28 acute promyelocytic leukemia 9.9
29 helix syndrome 9.9
30 lipoprotein quantitative trait locus 9.9
31 b-lymphoblastic leukemia/lymphoma 9.9
32 leukemia 9.9
33 chickenpox 9.9
34 gray platelet syndrome 9.8
35 hypertelorism 9.8
36 hemifacial microsomia 9.8
37 stormorken syndrome 9.8
38 cryptorchidism, unilateral or bilateral 9.8
39 desbuquois dysplasia 1 9.8
40 short syndrome 9.8
41 glanzmann thrombasthenia 9.8
42 agammaglobulinemia, x-linked 9.8
43 ataxia and polyneuropathy, adult-onset 9.8
44 quebec platelet disorder 9.8
45 astigmatism 9.8
46 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.8
47 autosomal recessive disease 9.8
48 scoliosis 9.8
49 robinow syndrome 9.8
50 suppression amblyopia 9.8

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:

# 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®:

57 (Updated 05-Mar-2021)
factor x activation deficiency
platelet receptor deficiency
prothrombin activation deficiency
defect in stimulated platelet capacity to expose surface phosphatidylserine
impaired factor viiia binding

hemorrhagic diathesis

Clinical features from OMIM®:

262890 (Updated 05-Mar-2021)

Drugs & Therapeutics for Scott Syndrome

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

(show top 50) (show all 191)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Nicotine Approved Phase 4 54-11-5 942 89594
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
Voriconazole Approved Phase 4 137234-62-9 71616
5 Cytochrome P-450 CYP3A Inhibitors Phase 4
6 Cytochrome P-450 Enzyme Inhibitors Phase 4
Efavirenz Approved, Investigational Phase 2, Phase 3 154598-52-4 64139
Salmon calcitonin Approved, Investigational Phase 3 47931-85-1 16129616
Vindesine Approved, Investigational Phase 3 53643-48-4, 59917-39-4 40839
Epirubicin Approved Phase 3 56420-45-2 41867
Lenograstim Approved, Investigational Phase 3 135968-09-1
Vinblastine Approved Phase 3 865-21-4 13342 241903
Ifosfamide Approved Phase 3 3778-73-2 3690
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
Sorafenib Approved, Investigational Phase 2, Phase 3 284461-73-0 216239 406563
16 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
Elotuzumab Approved Phase 3 915296-00-3
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
Fluorouracil Approved Phase 3 51-21-8 3385
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
tannic acid Approved Phase 3 1401-55-4
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
Etoposide Approved Phase 3 33419-42-0 36462
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
Daunorubicin Approved Phase 3 20830-81-3 30323
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
Pegaspargase Approved, Investigational Phase 3 130167-69-0
Ichthammol Approved Phase 3 8029-68-3
Blinatumomab Approved, Investigational Phase 3 853426-35-4
Mercaptopurine Approved Phase 3 50-44-2 667490
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
Calcitonin gene-related peptide Investigational Phase 3 83652-28-2
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
Cortisone Experimental Phase 3 53-06-5 222786
44 Anti-Retroviral Agents Phase 2, Phase 3
45 Reverse Transcriptase Inhibitors Phase 2, Phase 3
46 PENTA Phase 2, Phase 3
47 Calcium, Dietary Phase 3
48 calcitonin Phase 3
49 Katacalcin Phase 3
50 Vasodilator Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 140)
# 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 Prospective, Open-Label, Non-Comparative, Multicenter Study for the Secondary Prophylaxis of Invasive Fungal Infections (IFI) With Voriconazole in Patients With Allogeneic Stem Cell Transplants (SCT). Completed NCT00143312 Phase 4 voriconazole
3 A Multicenter,Randomized, Controlled (Comparative), Open, Prospective Study Evaluating an Efficacy of R-DA-EPOCH and R-CEOP90, With or Without Upfront Auto-HSCT,in Newly Diagnosed Young Patients With Intermediate/High-risk DLBCL Unknown status NCT03213977 Phase 3 R-DA-EPOCH;R-DA-EPOCH + auto-HSCT;R-CEOP90;R-CEOP90 + auto-HSCT
4 Chronic Venous ULcer TReatment Analyzing Bio-Electrical Stimulation Therapy Unknown status NCT00678847 Phase 2, Phase 3
5 Randomized, Prospective, Multicenter Study to Compare Enteral Nutrition to Parenteral Nutrition as Feeding Support in Patients Presenting Malignant Hemopathy Who Underwent an Allogeneic Hematopoietic Stem Cell Transplantation. Unknown status NCT01955772 Phase 3 Enteral nutrition alanyl-glutamin, Dipeptiven
6 A Randomized Phase III Study to Assess Intensification of the Conditioning Regimen for Allogenic Stem Cell Transplantation (ALLO-SCT) for Leukemia or Myelodysplastic Syndrome With a High Risk of Relapse Unknown status NCT00002989 Phase 3 busulfan;cyclophosphamide;idarubicin;melphalan
7 BREATHER (PENTA 16) Short-Cycle Therapy (SCT) (5 Days on/2 Days Off) in Young People With Chronic HIV-infection Unknown status NCT01641016 Phase 2, Phase 3 efavirenz
8 A Randomized, Double-Blind, Multiple Dose, Placebo-Controlled, Parallel Group, 48-Week, Study of Oral Recombinant Salmon Calcitonin (rsCT) Compared to Salmon Calcitonin (sCT) Nasal Spray in Postmenopausal Osteoporotic Women Completed NCT00959764 Phase 3 Oral Calcitonin Tablets;Intranasal Calcitonin;Placebo tablets and placebo intranasal spray
9 HLH-2004 Treatment Protocol Completed NCT00426101 Phase 3 Dexamethasone;Etoposide;Cyclosporin
10 Phase III Study to Compare Haplo-identical HSCT Versus Chemotherapy in First Remission for Standard-risk Adult Acute Lymphoblastic Leukemia Completed NCT02042690 Phase 3 Chemotherapy
11 Randomized, Controlled (Comparative), Open, Prospective Study Evaluating an Efficacy of R-DA-EPOCH-21, R-BL-M-04 and Autologous Stem Cells Transplantation in Patients With High-Grade B-cell Lymphoma Double-hit and High-Grade B-cell Lymphoma Not Otherwise Specified Recruiting NCT03479918 Phase 3 R-DA-EPOCH-21;R-BL-M-04;R-DA-EPOCH-21 + auto-SCT;R-BL-M-04 + auto-SCT
12 Multicenter, Randomized, Controlled (Comparative), Open, Prospective Study Evaluating an Efficacy of R-DA-EPOCH-21, R-mNHL-BFM-90 and (Auto-SCT)in Patients With DLBCL Recruiting NCT02842931 Phase 3 R-DA-EPOCH-21;R-DA-EPOCH-21 + auto-SCT;R-mNHL-BFM-90;R-mNHL-BFM-90 + auto-SCT
13 Phase II/III Randomized Study to Improve Overall Survival in 18 to 60 Year-old Patients, Comparing Daunorubicin Versus High Dose Idarubicin Induction Regimens, High Dose Versus Intermediate Dose Cytarabine Consolidation Regimens, and Standard Versus Mycophenolate Mofetil Prophylaxis of Graft Versus Host Disease in Allografted Patients in First CR : a Backbone InterGroup-1 Trial Recruiting NCT02416388 Phase 2, Phase 3 Idarubicin;Daunorubicin;HD Cytarabine;Cyclosporine;Methotrexate;Mycophenolic acid (MPA);vosaroxin;ID cytarabine;Dexamethasone;Venetoclax
14 Haplo-mismatch Donor Stem Cell Transplantation (SCT) Versus Autologous SCT Followed or Not by Maintenance Therapy, for Patients With Acute Myeloid Leukemia (AML) in First Remission: A Chinese Randomized Multicenter Study Recruiting NCT02059720 Phase 3
15 SCT-I10A in Combination With SCT510 Versus Sorafenib as First-Line Therapy for Advanced Hepatocellular Carcinoma (HCC): A Multicenter, Randomized, Open-label,Phase 2/3 Trial Recruiting NCT04560894 Phase 2, Phase 3 SCT-I10A;SCT510;Sorafenib 200mg
16 Elotuzumab in Combination With Carfilzomib, Lenalidomide and Dexamethasone (E-KRd) Versus KRd Prior to and Following Auto-SCT in Newly Diagnosed Multipe Myeloma and Subsequent Maintenance With Elotuzumab and Lenalidomide Versus Single-Agent Lenalidomide- A Phase III Study by DSMM Recruiting NCT03948035 Phase 3 Elotuzumab;Carfilzomib;Lenalidomide;Dexamethasone
17 SCT-I10A Combined With Standard Chemotherapy Versus Placebo Combined With Standard Chemotherapy in First-line Recurrent/ Metastatic Head and Neck Squamous Cell Carcinoma (HNSCC): A Phase III, Multicenter, Randomized, Double-blinded Trial Recruiting NCT04146402 Phase 3 SCT-I10A+chemo;Placebos+chemo
18 A Phase III Study, Randomized, to Evaluate the Reduction of Chemotherapy Intensity in Association With Nilotinib (Tasigna®) in Philadelphia Chromosome-positive (Ph+) ALL of Young Adults (18-59 Years Old) (GRAAPH-2014) Recruiting NCT02611492 Phase 3 Nilotinib;Methotrexate;Aracytine (Ara C);Granulocyte Colony-Stimulating Factor (G-CSF);Depomedrol;Dexamethasone;Vincristine;Imatinib;6 Mercaptopurine (6MP)
19 A Multicenter Randomized Double-blinded Phase 3 Clinical Trial to Evaluate the Efficacy and Safety of SCT-I10A or Placebo Plus Docetaxel in Treating Advanced Squamous Non-small Cell Lung Cancer Active, not recruiting NCT04171284 Phase 3 SCT-I10;Docetaxel;Placebo
20 A Phase III Randomized Trial of Blinatumomab for Newly Diagnosed BCR-ABL-Negative B Lineage Acute Lymphoblastic Leukemia in Adults Active, not recruiting NCT02003222 Phase 3 Cyclophosphamide;Cytarabine;Daunorubicin;Daunorubicin Hydrochloride;Dexamethasone;Etoposide;Mercaptopurine;Methotrexate;Pegaspargase;Prednisone;Vincristine;Vincristine Sulfate
21 An Investigator Initiated, Prospective, Randomized, Controlled Study in Order to Evaluate the Effect of Anti-thymocyte Globulin (Fresenius ATG) on Engraftment, Graft Versus Host Disease (GVHD) and Graft Versus Leukemia (GVL) Effect in Haplo-identical Allogeneic Hematopoietic Stem-cell Transplantation Terminated NCT00616954 Phase 3 ATG-F
22 A Prospective Phase II Trial on R-CHOP Followed by High-dose BEAM and Autologous SCT and HLA-identical Allogenic SCT After Dose-reduced Conditioning in Patients Age < 55 Years With Primary Mantle-Cell-Lymphoma Unknown status NCT00946374 Phase 2 Immunochemotherapy;High-dose BEAM plus autologous SCT
23 Prospective and Multicentre Evaluation of 3 Different Doses of IV Busulfan Associated With Fludarabine and Thymoglobuline in the Conditioning of Allogeneic Stem Cell Transplantation (SCT) From a Matched Related or Unrelated Donor in Patients With Poor Prognosis Myeloid Malignancies Unknown status NCT01985061 Phase 2 BX2;BX3;BX4-Suspended
24 Prospective, Open-label, Multicentre Clinical Trial, Phase I/IIa, to Investigate the Safety and Tolerability of Allogeneic B-cell Concentrates CD3+-Depleted, CD19+-Enriched, Cryopreserved (Single Administration After Day 120 Following Allogeneic Stem Cell Transplantation (SCT), Donor-identical) in 4 Groups With Escalating Doses for Immune Response Enhancement, Measured as Response to a Antedated Single Vaccination Unknown status NCT02007811 Phase 1, Phase 2
25 A Phase I/II Study to Assess the Safety and Immunogenicity of WT1-A10 + AS01B Antigen-Specific Cancer Immunotherapeutic (ASCI) Combined With Infusions of ex Vivo Regulatory T Cells Depleted T Lymphocytes in in Vivo Regulatory T Cells Depleted Patients as Post-consolidation Therapy for Adult Patients With WT1-positive Acute Myeloid Leukemia (AML) in CR1 (for High Risk Patients) or in CR2 or CR3 Who Are Not Eligible for Allogeneic Stem Cell Transplantation (SCT). Unknown status NCT01513109 Phase 1, Phase 2
26 A Randomised Controlled Phase II Trial of the Adoptive Transfer of Selected Cytomegalovirus-Specific Cytotoxic T Lymphocytes (CMV-CTL) After Allogeneic Stem Cell Transplantation (SCT) in Patients at Risk of CMV Disease Unknown status NCT00986557 Phase 2 foscarnet sodium;ganciclovir
27 Therapy Protocol ALL SCT BFM International-Open, Multicenter, Controlled, Prospective Study for Therapy and Therapy Optimisation in Patients With Acute Lymphoblastic Leukemia (ALL) and an Indication for Allogeneic Hematopoietic Stem Cell Transplantation (HSCT) Unknown status NCT00861679 Phase 1, Phase 2
28 A Phase II Clinical Trial for Untreated Patients With Multiple Myeloma Eligible for Stem Cell Transplant: Lenalidomide (Revlimid®) Plus Low-dose Dexamethasone (Ld x 4 Cycles) Then Stem Cell Collection Followed by Randomization to Continued Ld or Stem Cell Transplantation (SCT) Plus Maintenance L Completed NCT00807599 Phase 2 lenalidomide and dexamethasone
29 Epidemiologic Study on Changing HIV Risks Among FSW-IDUs on the Mexico-US Border Completed NCT00840658 Phase 2
30 Clofarabine/Ara-C Treatment Combined With Reduced-intensity Conditioning Allogeneic Stem Cell Transplantation for Acute Myeloid Leukemia in Primary Treatment Failure Completed NCT01188174 Phase 2 Clofarabine
31 Treatment of Adult Acute Lymphoblastic Leukemia Using a Post-remission Programme Whose Intensity Varies Depending on the Risk Class Defined on the Basis of Minimal Residual Disease. Completed NCT00358072 Phase 2
32 A Pilot Study of Lenalidomide and Dexamethasone in Patients With Primary Plasma Cell Leukemia Completed NCT01553357 Phase 2 Lenalidomide, dexamethasone
33 Enhancing HIV Risk Reduction Among Indian Women With Risky Husbands Completed NCT01592994 Phase 2
34 Allogeneic Hematopoietic Stem Cell Transplantation With Reduced-intensity Conditioning in Children With Neuroblastoma Who Have Failed a Prior Autologous Transplantation Completed NCT00793351 Phase 2
35 A Phase 2, Randomized Study of VELCADE® (Bortezomib), Dexamethasone, and Thalidomide Versus VELCADE® (Bortezomib), Dexamethasone, Thalidomide, and Cyclophosphamide in Subjects With Previously Untreated Multiple Myeloma Who Are Candidates for Autologous Transplantation Completed NCT00531453 Phase 2 bortezomib, dexamethasone, and thalidomide;bortezomib, dexamethasone, thalidomide, and cyclophosphamide
36 PhaseII,Open-label,Pilot Study Evaluating the Safety+Efficacy of Certican ® in the Prevention of Chronic Graft-versus-host Disease+Late Pulmonary Complications After Allogeneic Hematopoietic Cell Transplantation Blood Completed NCT01509560 Phase 2 Everolimus
37 Allogeneic (Allo) Non-Myeloablative Stem Cell Transplantation (SCT) Utilizing Mis-Matched Family Member Stem Cells Purged Using Campath-1H Completed NCT00580034 Phase 2 Campath Purged Non-myeloablative ASCT
38 S0115, A Phase II Trial Evaluating Modified High Dose Melphalan (100 mg/m) And Autologous Peripheral Blood Stem Cell Supported Transplant (SCT) For High Risk Patients With Multiple Myeloma And/Or Light Chain Amyloidosis (AL Amyloidosis) (A BMT Study) Completed NCT00064337 Phase 2 cyclophosphamide;dexamethasone;melphalan;thalidomide
39 Efficacy of Lisdexamfetamine in Adults With Attention Deficit Hyperactivity Disorder (ADHD) and Sluggish Cognitive Tempo (SCT) Completed NCT02635035 Phase 2 Lisdexamfetamine;Placebo
40 Killer Immunoglobulin-like Receptor (KIR) Incompatible Unrelated Donor Hematopoietic Cell Transplantation (SCT) for AML With Monosomy 7, -5/5q-, High FLT3-ITD AR, or Refractory and Relapsed Acute Myelogenous Leukemia (AML) in Children: A Children's Oncology Group (COG) Study Completed NCT00553202 Phase 2 busulfan;cyclophosphamide;cyclosporine;methotrexate;methylprednisolone;tacrolimus
41 Azacitidine/Vorinostat/GemBuMel With Autologous Stem-Cell Transplant (SCT) in Patients With Refractory Lymphomas Completed NCT01983969 Phase 1, Phase 2 Azacitidine;Vorinostat;Gemcitabine;Busulfan;Melphalan;Dexamethasone;Glutamine;Pyridoxine;Rituximab
42 Cyclophosphamide Versus Anti-thymocyte Globulin for GVHD Prophylaxis After RIC Allo-SCT Completed NCT02876679 Phase 2 Cyclophosphamide;Anti-Thymocyte Globulin;Conditioning regimen
43 A Phase II Study to Assess the Efficacy of Maraviroc in Prophylaxis of GVHD in Patients With Hematologic Malignancies Undergoing Reduced-Intensity Allogeneic SCT From Unrelated Donors Completed NCT01785810 Phase 2 Maraviroc 300 mg
44 A Multi-centre, Randomised, Double-blind, Parallel Groups, Placebocontrolled Trial on Efficacy and Safety of Activated Recombinant Factor VII (rFVIIa/NovoSeven®) in Treatment of Bleeding in Patients Following Stem Cell Transplantation (SCT) Completed NCT01562158 Phase 2 activated recombinant human factor VII;activated recombinant human factor VII;activated recombinant human factor VII;placebo
45 A Phase II Study of 5-Azacitidine (5AC) in Combination With Sargramostim (GM-CSF) as Maintenance Treatment, After Definitive Therapy With Either Stem Cell Transplant (SCT) or Cytarabine-based Chemotherapy, in Patients With Poor-risk Acute Myeloid Leukemia (AML) or Myelodysplastic Syndrome (MDS) Completed NCT01700673 Phase 2 Azacitidine
46 A Phase II, Randomized Trial of Standard of Care, With or Without Midostaruin to Prevent Relapse Following Allogeneic Hematopoietic Stem Cell Transplantation in Patients With FLT3-ITD Mutated Acute Myeloid Leukemia Completed NCT01883362 Phase 2 Midostaurin
47 Zevalin/BEAM/Rituximab vs BEAM/Rituximab With or Without Rituximab Maintenance in Autologous Stem Cell Transplantation for Diffuse Large B-Cell Lymphomas Completed NCT00591630 Phase 2 Zevalin;Carmustine;Etoposide;Cytarabine;Melphalan;Rituximab
48 Adoptive Immunotherapy With CD25/71 Allodepleted Donor T Cells to Improve Immunity After Unrelated Donor Stem Cell Transplant Completed NCT01827579 Phase 1, Phase 2
49 Allogeneic Stem Cell Transplantation With Treosulfan, VP-16 and Cyclophosphamide for Patients With Acute Lymphoblastic Leukemia (ALL) Not Eligible for TBI-containing Conditioning Regimen: A Phase II-study Completed NCT00682305 Phase 2
50 A Phase II Trial of Post-Transplant Cyclophosphamide and Sirolimus for Graft-versus-host Disease (GVHD) Prophylaxis Following Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation Completed NCT01244906 Phase 2

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:

Myeloid, T Cells, Spinal Cord, Liver, Bone Marrow, Bone, Prostate

Publications for Scott Syndrome

Articles related to Scott Syndrome:

(show top 50) (show all 582)
# Title Authors PMID Year
Calcium-dependent phospholipid scrambling by TMEM16F. 6 57 61
21107324 2010
Production and characterization of transformed B-lymphocytes expressing the membrane defect of Scott syndrome. 61 57 6
7989579 1994
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. 57 54 61
15790791 2005
Store-mediated calcium entry in the regulation of phosphatidylserine exposure in blood cells from Scott patients. 61 57
12669124 2003
A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity. 57 61
11895776 2002
Scott syndrome erythrocytes contain a membrane protein capable of mediating Ca2+-dependent transbilayer migration of membrane phospholipids. 57 61
9151796 1997
Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder. 61 57
8608230 1996
Scott syndrome: a disorder of platelet coagulant activity. 57 61
7831576 1994
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. 57 61
2547839 1989
Isolation of an erythrocyte membrane protein that mediates Ca2+-dependent transbilayer movement of phospholipid. 57
8663431 1996
Impaired factor X and prothrombin activation associated with decreased phospholipid exposure in platelets from a patient with a bleeding disorder. 57
3995186 1985
Familial haemostatic defect associated with reduced prothrombin consumption. 57
7378303 1980
Deficiency of factor Xa-factor Va binding sites on the platelets of a patient with a bleeding disorder. 57
497393 1979
Isolated deficiency of platelet procoagulant activity. 57
572637 1979
Properties of the factor Xa binding site on human platelets. 57
690132 1978
Interaction of coagulation factor Xa with human platelets. 57
333455 1977
An atypical genetic haemorrhagic disease with increased concentration of a natural inhibitor of prothrombin consumption. 57
6029953 1967
Impaired platelet procoagulant mechanisms in patients with bleeding disorders. 54 61
19408196 2009
Molecular defects in the ABCA1 pathway affect platelet function. 61 54
16855366 2006
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
Characterization of a novel bleeding disorder with isolated prolonged bleeding time and deficiency of platelet microvesicle generation. 61 54
9054648 1997
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. 61 54
9057642 1997
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
Increased Intracranial Pressure Without Hydrocephalus Associated With Spinal Cord Tumor: Literature Review. 61
32826715 2021
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy. 61
33147934 2021
Comparative evaluation between one ultrasonic and two single-probe dual energy lithotripters: in vitro and in vivo experiment in a porcine model. 61
33573470 2021
Syncytialization and prolonged exposure to palmitate impacts BeWo respiration. 61
33151905 2021
Outcomes of repeat sweat testing in cystic fibrosis newborn screen positive infants. 61
33512069 2021
Assessment of daily dose accumulation for robustly optimized intensity modulated proton therapy treatment of prostate cancer. 61
33445124 2021
Failure of multiple surgical procedures and adjuvant chemotherapy in early-stage steroid-cell ovarian tumor treatment: a case report and literature review. 61
33435776 2021
Deep learning-based synthetic CT generation for paediatric brain MR-only photon and proton radiotherapy. 61
32976877 2020
Are script concordance tests suitable for the assessment of undergraduate students? A multicenter comparative study. 61
33288231 2020
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Variations for Scott Syndrome

ClinVar genetic disease variations for Scott Syndrome:

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

Expression for Scott Syndrome

Search GEO for disease gene expression data for Scott Syndrome.

Pathways for Scott Syndrome

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 integral component of membrane GO:0016021 10.03 XYLT1 XKR8 SCTR PLSCR1 ANO9 ANO8
2 membrane GO:0016020 10.03 XYLT1 XKR8 SCTR PTPN3 PLSCR1 PLEK
3 plasma membrane GO:0005886 9.53 XKR8 SCTR PTPN3 PLSCR1 PLEK F2
4 chloride channel complex GO:0034707 9.13 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 9.92 ANO9 ANO8 ANO6 ANO3 ANO2 ANO10
2 lipid transport GO:0006869 9.71 ANO9 ANO6 ANO3 ABCA1
3 ion transmembrane transport GO:0034220 9.7 ANO9 ANO8 ANO6 ANO3 ANO2 ANO10
4 cation transport GO:0006812 9.69 ANO6 ANO10 ANO1
5 calcium activated phospholipid scrambling GO:0061588 9.54 ANO9 ANO6 ANO3
6 phosphatidylserine exposure on apoptotic cell surface GO:0070782 9.49 XKR8 PLSCR1
7 phospholipid scrambling GO:0017121 9.48 PLSCR1 ANO6
8 calcium activated galactosylceramide scrambling GO:0061591 9.46 ANO9 ANO3
9 calcium activated phosphatidylserine scrambling GO:0061589 9.43 ANO9 ANO6
10 calcium activated phosphatidylcholine scrambling GO:0061590 9.43 ANO9 ANO6 ANO3
11 chloride transport GO:0006821 9.43 ANO9 ANO8 ANO6 ANO2 ANO10 ANO1
12 chloride transmembrane transport GO:1902476 9.17 ANO9 ANO8 ANO6 ANO3 ANO2 ANO10

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

# Name GO ID Score Top Affiliating Genes
1 protein dimerization activity GO:0046983 9.62 ANO6 ANO3 ANO2 ANO1
2 chloride channel activity GO:0005254 9.55 ANO9 ANO6 ANO3 ANO2 ANO1
3 calcium activated cation channel activity GO:0005227 9.43 ANO6 ANO10 ANO1
4 voltage-gated chloride channel activity GO:0005247 9.37 ANO6 ANO1
5 phospholipid scramblase activity GO:0017128 9.26 PLSCR1 ANO9 ANO6 ANO3
6 intracellular calcium activated chloride channel activity GO:0005229 9.17 ANO9 ANO8 ANO6 ANO3 ANO2 ANO10

Sources for Scott Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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