MCID: SCT005
MIFTS: 51

Scott Syndrome

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Scott Syndrome

MalaCards integrated aliases for Scott Syndrome:

Name: Scott Syndrome 54 12 50 24 56 71 29 13 52 69
Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor X 24 71
Prothrombin Consumption Deficiency 12 71
Bdplt7 12 71
Scts 12 71
Bleeding Abnormality Due to Deficiency of Platelet Biding of Factor X 12
Familial Prothrombin Consumption Inhibitor 12
Prothrombin Consumption Inhibitor Familial 71
Prothrombin Conversion Defect, Familial 24
Familial Prothrombin Conversion Defect 12
Prothrombin Conversion Defect Familial 71
Platelet Factor X Receptor Deficiency 50
Bleeding Disorder, Platelet-Type, 7 24
Platelet-Type Bleeding Disorder 7 12
Bleeding Disorder Platelet-Type 7 71

Characteristics:

Orphanet epidemiological data:

56
scott syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
scott syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 262890
Disease Ontology 12 DOID:0111052
ICD10 33 D69.8
Orphanet 56 ORPHA806
UMLS via Orphanet 70 C0796149
ICD10 via Orphanet 34 D69.8
MedGen 40 C0796149
MeSH 42 D006470
UMLS 69 C0796149

Summaries for Scott Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 806disease definitionscott 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. last updated: 1/1/2014

MalaCards based summary : Scott Syndrome, also known as bleeding abnormality due to deficiency of platelet binding of factor x, is related to sacrococcygeal teratoma and aarskog-scott syndrome, and has symptoms including abnormal bleeding and factor x activation deficiency. An important gene associated with Scott Syndrome is ANO6 (Anoctamin 6), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. The drugs Estradiol and Cortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include myeloid, eye and bone.

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

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.

Wikipedia : 72 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 112)
id Related Disease Score Top Affiliating Genes
1 sacrococcygeal teratoma 31.7 F2 F5
2 aarskog-scott syndrome 12.4
3 spondylocarpotarsal synostosis syndrome 11.7
4 chediak-higashi syndrome 11.1
5 epiphyseal dysplasia hearing loss dysmorphism 10.9
6 pelvic hypoplasia with lower-limb arthrogryposis 10.7
7 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 10.7
8 limb transversal defect-cardiac anomaly syndrome 10.7
9 myiasis 10.6 F10 F2
10 spinal cord lipoma 10.6 F2 FGD1
11 isolated cerebellar vermis agenesis 10.5 ARHGEF2 FGD1
12 acquired pure red cell aplasia 10.5 F10 F5
13 hsd10 mitochondrial disease 10.5 ARHGEF2 FGD1
14 variably protease-sensitive prionopathy 10.4 F2 F5
15 syncope 10.4 F2 F5
16 lockwood feingold syndrome 10.4 F2 F5
17 superior limbic keratoconjunctivitis 10.4 F2 F5
18 46,xy ovotesticular disorder of sex development 10.4 F2 F5
19 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.4 F10 F5
20 follicular adenoma 10.4 F2 F5
21 testicular gonadoblastoma 10.4 F2 F5
22 factor x deficiency 10.4 F10 F2
23 bile duct cystadenoma 10.4 F2 F5
24 collagenous colitis 10.4 F2 F5
25 hiv-1 10.4 F2 F5
26 glutathioninuria 10.4 F2 F5
27 primary pigmented nodular adrenocortical disease 10.4 F2 F5
28 rheumatoid lung disease 10.4 F2 F5
29 facioscapulohumeral muscular dystrophy 1 10.4 F2 F5
30 cryptosporidiosis 10.4 F2 F5
31 factor v deficiency 10.3 F2 F5
32 scapuloperoneal myopathy, x-linked dominant 10.3 F10 F2
33 intestinal pseudo-obstruction 10.3 F2 F5
34 congenital syphilis 10.3 F2 F5
35 homologous wasting disease 10.3 F2 F5
36 neuroaxonal dystrophy 10.3 F2 F5
37 angular blepharoconjunctivitis 10.3 F2 F5
38 inherited blood coagulation disease 10.3 F2 F5
39 dysgammaglobulinemia 10.3 F2 F5
40 hepatocellular adenoma 10.3 F2 F5
41 dyskeratosis congenita autosomal recessive 10.3 F2 F5
42 ulcerative stomatitis 10.3 F2 F5
43 blepharoconjunctivitis 10.3 F2 F5
44 acute lymphocytic leukemia 10.2 F2 F5
45 aryepiglottic fold cancer 10.2 F2 F5
46 moderately severe hemophilia b 10.2 F2 F5
47 thrombomodulin anomalies, familial 10.2 F2 F5
48 joint disorders 10.2 F2 F5
49 leukemia 10.1
50 leukorrhea 10.1 F2 F5

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



Diseases related to Scott Syndrome

Symptoms & Phenotypes for Scott Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Heme:
hemorrhagic diathesis


Clinical features from OMIM:

262890

Human phenotypes related to Scott Syndrome:

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

Drugs & Therapeutics for Scott Syndrome

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

(show top 50) (show all 307)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Cortisone acetate Approved Phase 4 1950-04-4, 50-04-4 5745
3
Aztreonam Approved Phase 4 78110-38-0 5362041 5742832
4
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
5
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
6
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
7
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
8
Cidofovir Approved Phase 4 113852-37-2 60613
9
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
10
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
11
Nevirapine Approved Phase 4 129618-40-2 4463
12
Zidovudine Approved Phase 4,Phase 1 30516-87-1 35370
13
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
14
Warfarin Approved Phase 4 81-81-2 6691 54678486
15
Aspirin Approved, Vet_approved Phase 4,Early Phase 1 50-78-2 2244
16
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
17
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
18 Contraceptive Agents Phase 4
19 Contraceptives, Oral Phase 4
20 Estradiol 17 beta-cypionate Phase 4
21 Estradiol 3-benzoate Phase 4
22 Estradiol valerate Phase 4 979-32-8
23 Estrogens Phase 4
24 Hormone Antagonists Phase 4,Phase 3,Phase 2
25 Hormones Phase 4,Phase 3,Phase 2
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
27 Polyestradiol phosphate Phase 4
28 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
30 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
31 Psychotropic Drugs Phase 4,Phase 3,Phase 2
32 Tranquilizing Agents Phase 4,Phase 2
33 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
34 Anti-HIV Agents Phase 4,Phase 1
35 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
36 Anti-Retroviral Agents Phase 4,Phase 1
37 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
38 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
39 Micronutrients Phase 4,Phase 3,Phase 2
40 Trace Elements Phase 4,Phase 3,Phase 2
41 Vitamins Phase 4,Phase 3,Phase 2
42 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
43
Cortisone Phase 4 53-06-5 222786
44 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2
45 Antiemetics Phase 4,Phase 3,Phase 2
46 Antipsychotic Agents Phase 4
47 Autonomic Agents Phase 4,Phase 3,Phase 2
48 Dopamine Agents Phase 4,Phase 3
49 Dopamine Antagonists Phase 4
50 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 130)

id Name Status NCT ID Phase Drugs
1 Prevention of Menstrual Migraines: Effects of Estrogen Add-back During the HFI in Patients Using Continuous Oral Contraceptives. Unknown status NCT01251263 Phase 4 Estradiol or Placebo;Estradiol or Placebo
2 Cortisone Injection vs Trigger Point Dry Needling Fin the Treatment of Greater Trochanter Pain Syndrome: A Pilot Study Completed NCT02639039 Phase 4 Cortisone Injection
3 Safety Study of Aztreonam Lysine for Inhalation (AZLI) in the Treatment of Early Bronchiolitis Obliterans Syndrome (BOS) Completed NCT01469364 Phase 4 Aztreonam Lysine for Inhalation (AZLI)
4 Comparison of Antipsychotics for Metabolic Problems in Schizophrenia or Schizoaffective Disorder Completed NCT00423878 Phase 4 Risperidone;Olanzapine;Quetiapine;Aripiprazole
5 Use of Cidofovir for Recurrent Respiratory Papillomatosis Completed NCT00205374 Phase 4 Cidofovir;Placebo
6 Clinical Trial of Brain-Penetrating HIV Drugs to Prevent Cognitive Impairment in China Completed NCT01340950 Phase 4 zidovudine-lamivudine-nevirapine;tenofovir-lamivudine-efavirenz
7 Apixaban for the Secondary Prevention of Thromboembolism Among Patients With the AntiphosPholipid Syndrome Recruiting NCT02295475 Phase 4 Apixaban;Warfarin
8 A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart Recruiting NCT02415400 Phase 4 Apixaban;vitamin K antagonist;Acetylsalicylic acid
9 The Effect of Antihypertensive Medication Timing on Morbidity and Mortality Enrolling by invitation NCT02990663 Phase 4
10 Efficacy of Botulinum Toxin In Scleroderma-Associated Raynaud's Syndrome Completed NCT02165111 Phase 3 Onabotulinumtoxin A;sterile saline solution
11 Comparison of Oral Valganciclovir and Placebo for the Prevention of Cytomegalovirus (CMV) After Lung Transplantation Completed NCT00227370 Phase 3 valganciclovir
12 Low-Dose or High-Dose Conditioning Followed by Peripheral Blood Stem Cell Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia Completed NCT00322101 Phase 3 cyclophosphamide;mycophenolate mofetil;busulfan;cyclosporine;fludarabine phosphate;tacrolimus;methotrexate
13 S9920 Busulfan Compared With Cyclophosphamide in Patients Undergoing Total-Body Irradiation Plus Peripheral Stem Cell Transplantation for Advanced Myelodysplastic Syndrome or Related Acute Myeloid Leukemia Completed NCT00005866 Phase 3 busulfan;cyclophosphamide;cyclosporine;methotrexate
14 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
15 Erythropoietin (EPO)+/- Filgrastim (G-CSF) vs. Supportive Therapy Alone for Patients With Myelodysplastic Syndromes Completed NCT00003138 Phase 3
16 A Safety and Efficacy Study of a New Eye Drop Formulation in Patients With Dry Eye Disease. Completed NCT02553772 Phase 3 Carboxymethylcellulose Based Eye Drop;Carboxymethylcellulose Sodium 0.5%
17 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
18 Glutathione in Preventing Peripheral Neuropathy Caused by Paclitaxel and Carboplatin in Patients With Ovarian Cancer, Fallopian Tube Cancer, and/or Primary Peritoneal Cancer Completed NCT02311907 Phase 3 Carboplatin;Glutathione;Paclitaxel
19 Targeting Inflammation Using Salsalate for Type 2 Diabetes-stage II Completed NCT00799643 Phase 2, Phase 3 Salsalate;Salsalate Placebo
20 Combination Chemotherapy With or Without Gemtuzumab in Treating Young Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT00372593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;etoposide;gemtuzumab ozogamicin;mitoxantrone hydrochloride
21 Calcium Gluconate and Magnesium Sulfate in Preventing Neurotoxicity in Patients With Colon Cancer or Rectal Cancer Receiving Oxaliplatin-Based Combination Chemotherapy Completed NCT01099449 Phase 3 calcium gluconate;magnesium sulfate;oxaliplatin
22 Duloxetine in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer Completed NCT00489411 Phase 3 duloxetine hydrochloride
23 Antifungal Therapy for Fever and Neutropenia in Patients Receiving Treatment for Hematologic Cancer Completed NCT00002742 Phase 3 amphotericin B deoxycholate;nystatin
24 A Study to Assess the Efficacy and Safety of Abatacept in Adults With Active Primary Sjögrens Syndrome Recruiting NCT02915159 Phase 3
25 Study of Perampanel as Adjunctive Treatment for Inadequately Controlled Seizures Associated With Lennox-Gastaut Syndrome Recruiting NCT02834793 Phase 3 Perampanel;Placebo
26 A Study To Confirm Efficacy and Safety of Terlipressin in HRS Type 1 Recruiting NCT02770716 Phase 3 Terlipressin acetate
27 Diet and Physical Activity Change or Usual Care in Improving Progression-Free Survival in Patients With Previously Treated Stage II, III, or IV Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Recruiting NCT00719303 Phase 3
28 Safety and Efficacy of KPI-121 Compared to Placebo in Subjects With Dry Eye Disease Recruiting NCT02819284 Phase 3 KPI-121 0.25% Ophthalmic Suspension;Vehicle of KPI-121 0.25% Ophthalmic Suspension
29 EZN-2279 in Patients With ADA-SCID Recruiting NCT01420627 Phase 3
30 Safety and Efficacy of KPI-12 in Subjects With Dry Eye Disease Recruiting NCT02813265 Phase 3 KPI-121 0.25% Ophthalmic Suspension;Vehicle of KPI-121 0.25% Ophthalmic Suspension
31 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3 Cyclophosphamide;Cytarabine;Dexamethasone;Doxorubicin Hydrochloride;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Thioguanine;Vincristine Sulfate
32 Controlled Study of Rigosertib Versus Physician's Choice of Treatment in MDS Patients After Failure of an HMA Recruiting NCT02562443 Phase 3 rigosertib;Any approved or standard-of-care therapy;best supportive care (BSC);best supportive care (BSC)
33 AngelMed for Early Recognition and Treatment of STEMI Active, not recruiting NCT00781118 Phase 3
34 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3 Fluorouracil;Leucovorin Calcium;Oxaliplatin
35 Pelvic Radiation Therapy or Vaginal Implant Radiation Therapy, Paclitaxel, and Carboplatin in Treating Patients With High-Risk Stage I or Stage II Endometrial Cancer Active, not recruiting NCT00807768 Phase 3 Carboplatin;Paclitaxel
36 Celecoxib in Preventing Hand/Foot Syndrome Caused By Capecitabine With Metastatic Breast or Colorectal Cancer Terminated NCT00305643 Phase 3 Capecitabine;Celecoxib;Placebo
37 Phase III Acute Coronary Syndrome Terminated NCT00831441 Phase 3 Apixaban;Placebo
38 The Oscillation for Acute Respiratory Distress Syndrome (ARDS) Treated Early (OSCILLATE) Trial Terminated NCT01506401 Phase 3
39 Topical Ophthalmic AGN-195263 for the Treatment of Evaporative Dry Eye Terminated NCT02965846 Phase 3 AGN-195263;Vehicle
40 Arsenic Trioxide in Treating Patients With Myelodysplastic Syndromes Unknown status NCT00020969 Phase 2 arsenic trioxide
41 Treatment of Nodding Syndrome - A Randomized Blinded Placebo-Controlled Crossover Trial of Oral Pyridoxine and Conventional Anti-Epileptic Therapy, in Northern Uganda — 2012 Unknown status NCT01730313 Phase 2 Pyridoxine;Sodium Valproate;Phenytoin;Placebo
42 Azacitidine and Etanercept in Treating Patients With Myelodysplastic Syndromes Completed NCT00118287 Phase 1, Phase 2 azacitidine
43 Anti-Thymocyte Globulin and Etanercept in Treating Patients With Myelodysplastic Syndromes Completed NCT00217386 Phase 2
44 Azacitidine in Treating Patients With Relapsed Myelodysplastic Syndrome, Chronic Myelomonocytic Leukemia, or Acute Myeloid Leukemia Who Have Undergone Stem Cell Transplant Completed NCT01083706 Phase 2 azacitidine
45 Treatment Efficacy of OMT for Carpal Tunnel Syndrome Completed NCT00394043 Phase 2
46 Green Tea Lozenges for the Management of Dry Mouth Completed NCT01647737 Phase 1, Phase 2
47 Arsenic Trioxide and Etanercept in Treating Patients With Myelodysplastic Syndromes Completed NCT00093366 Phase 1, Phase 2 arsenic trioxide
48 Atorvastatin (Lipitor) Therapy in Patients With Clinically Isolated Syndrome (CIS) at Risk for Multiple Sclerosis Completed NCT00094172 Phase 2 Atorvastatin;Placebo
49 Civamide Nasal Solution for the Treatment of Dry Eye Completed NCT02116244 Phase 2 Civamide Nasal Spray
50 Azacitidine With or Without Entinostat in Treating Patients With Myelodysplastic Syndromes, Chronic Myelomonocytic Leukemia, or Acute Myeloid Leukemia Completed NCT00313586 Phase 2 Azacitidine;Entinostat

Search NIH Clinical Center for Scott Syndrome

Genetic Tests for Scott Syndrome

Genetic tests related to Scott Syndrome:

id Genetic test Affiliating Genes
1 Scott Syndrome 29 24 ANO6

Anatomical Context for Scott Syndrome

MalaCards organs/tissues related to Scott Syndrome:

39
Myeloid, Eye, Bone, Brain, Lung, Heart, Bone Marrow

Publications for Scott Syndrome

Articles related to Scott Syndrome:

(show top 50) (show all 70)
id Title Authors Year
1
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. ( 28587322 )
2017
2
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. ( 28103835 )
2017
3
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. ( 27544718 )
2016
4
Combined quantification of the global proteome, phosphoproteome and proteolytic cleavage to characterize altered platelet functions in the human Scott syndrome. ( 27535140 )
2016
5
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. ( 27551683 )
2016
6
Platelets and coagulation in thrombus formation: aberrations in the Scott syndrome. ( 27207414 )
2016
7
A new mutation of ANO6 in two familial cases of Scott syndrome. ( 27879994 )
2016
8
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706 )
2015
9
Detection of phosphatidyl serine on activated platelets' surface by flow cytometry in whole blood: a simpler test for the diagnosis of Scott syndrome. ( 25823976 )
2015
10
Aarskog-Scott syndrome presenting with psychosis: A case study. ( 25911513 )
2015
11
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). ( 25227149 )
2014
12
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. ( 24770546 )
2014
13
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637 )
2013
14
Aarskog-Scott syndrome. ( 23673187 )
2013
15
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394 )
2013
16
A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263 )
2013
17
Mania with Aarskog-Scott syndrome. ( 22565081 )
2012
18
Aarskog-scott syndrome: a review and case report. ( 25206170 )
2012
19
Diagnosis of Scott syndrome in patient with bleeding disorder of unknown cause. ( 22027759 )
2012
20
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847 )
2012
21
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). ( 23061683 )
2012
22
Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome. ( 21958383 )
2011
23
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. ( 21511967 )
2011
24
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). ( 21654724 )
2011
25
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. ( 21911474 )
2011
26
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585 )
2011
27
Laboratory monitoring of Scott Syndrome. ( 19814742 )
2010
28
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. ( 20082460 )
2010
29
A genome-wide linkage scan in German shepherd dogs localizes canine platelet procoagulant deficiency (Scott syndrome) to canine chromosome 27. ( 19854246 )
2010
30
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. ( 19110080 )
2009
31
Evaluation of platelet function screening tests to detect platelet procoagulant deficiency in dogs with Scott syndrome. ( 19351331 )
2009
32
Absence of platelet-dependent fibrin formation in a patient with Scott syndrome. ( 19572071 )
2009
33
Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. ( 18844827 )
2008
34
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. ( 17152066 )
2007
35
Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. ( 17723137 )
2007
36
Cerebrovascular disease associated with Aarskog-Scott syndrome. ( 17294235 )
2007
37
Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1. ( 17847065 )
2007
38
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726 )
2006
39
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916 )
2006
40
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). ( 15809997 )
2005
41
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. ( 15790791 )
2005
42
Identification of genes involved in Ca2+ ionophore A23187-mediated apoptosis and demonstration of a high susceptibility for transcriptional repression of cell cycle genes in B lymphoblasts from a patient with Scott syndrome. ( 16242039 )
2005
43
Characterisation of lymphocyte responses to Ca2+ in Scott syndrome. ( 14961172 )
2004
44
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. ( 14560308 )
2004
45
Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids. ( 15164759 )
2004
46
Subproteomics analysis of phosphorylated proteins: application to the study of B-lymphoblasts from a patient with Scott syndrome. ( 12124928 )
2002
47
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). ( 10930571 )
2000
48
Assessment of the expression of candidate human plasma membrane phospholipid scramblase in Scott syndrome cells. ( 10064019 )
1999
49
Expression of proteins controlling transbilayer movement of plasma membrane phospholipids in the B lymphocytes from a patient with Scott syndrome. ( 9716599 )
1998
50
Impaired redistribution of aminophospholipids with distinctive cell shape change during Ca2+-induced activation of platelets from a patient with Scott syndrome. ( 9576181 )
1998

Variations for Scott Syndrome

ClinVar genetic disease variations for Scott Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
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

GO Terms for Scott Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.56 ABCA1 ANO6 ARHGEF2 F10 F2 F5
2 Golgi apparatus GO:0005794 9.02 ABCA1 ARHGEF2 F5 FGD1 PLSCR1

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

id Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.58 F10 F2 F5
2 acute-phase response GO:0006953 9.43 F2 PLSCR1
3 signal peptide processing GO:0006465 9.37 F10 F2
4 blood coagulation, intrinsic pathway GO:0007597 9.32 F10 F2
5 peptidyl-glutamic acid carboxylation GO:0017187 9.26 F10 F2
6 phospholipid scrambling GO:0017121 9.16 ANO6 PLSCR1
7 hemostasis GO:0007599 9.13 F10 F2 F5
8 blood coagulation GO:0007596 8.92 ANO6 F10 F2 F5

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

id Name GO ID Score Top Affiliating Genes
1 small GTPase binding GO:0031267 8.96 ABCA1 FGD1
2 phospholipid scramblase activity GO:0017128 8.62 ANO6 PLSCR1

Sources for Scott Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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