SCTS
MCID: SCT005
MIFTS: 53

Scott Syndrome (SCTS) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Scott Syndrome

Aliases & Descriptions for Scott Syndrome:

Name: Scott Syndrome 54 12 50 24 56 66 29 13 52 69
Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor X 24 66
Prothrombin Consumption Deficiency 12 66
Bdplt7 12 66
Scts 12 66
Bleeding Abnormality Due to Deficiency of Platelet Biding of Factor X 12
Familial Prothrombin Consumption Inhibitor 12
Prothrombin Consumption Inhibitor Familial 66
Prothrombin Conversion Defect, Familial 24
Familial Prothrombin Conversion Defect 12
Prothrombin Conversion Defect Familial 66
Platelet Factor X Receptor Deficiency 50
Bleeding Disorder, Platelet-Type, 7 24
Platelet-Type Bleeding Disorder 7 12
Bleeding Disorder Platelet-Type 7 66

Characteristics:

Orphanet epidemiological data:

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

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

OMIM : 54 Scott syndrome is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant... (262890) more...

MalaCards based summary : Scott Syndrome, also known as bleeding abnormality due to deficiency of platelet binding of factor x, is related to aarskog-scott syndrome and spondylocarpotarsal synostosis 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 Signaling by Rho GTPases and p75 NTR receptor-mediated signalling. The drugs Estradiol and Zidovudine have been mentioned in the context of this disorder. Affiliated tissues include testes, b lymphoblasts and endothelial.

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.

UniProtKB/Swiss-Prot : 66 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 : 71 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 81)
id Related Disease Score Top Affiliating Genes
1 aarskog-scott syndrome 12.4
2 spondylocarpotarsal synostosis syndrome 11.7
3 sacrococcygeal teratoma 11.1
4 chediak-higashi syndrome 11.1
5 pelvic hypoplasia with lower-limb arthrogryposis 10.9
6 epiphyseal dysplasia hearing loss dysmorphism 10.9
7 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 10.9
8 limb transversal defect-cardiac anomaly syndrome 10.9
9 bernard-soulier syndrome, type c 10.8
10 isolated partial cerebellar vermis agenesis 10.3 ARHGEF2 FGD1
11 congenital insensitivity to pain with severe intellectual disability 10.2 F2 F5
12 chorioretinal scar 10.2 F10 F2
13 vascular erectile tumor 10.2 F2 F5
14 lubinsky syndrome 10.2 F2 F5
15 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.2 F2 F5
16 acrodysplasia scoliosis 10.2 F10 F5
17 pancreatic ductal carcinoma 10.2 F2 F5
18 oxyphilic adenoma 10.2 F2 F5
19 spinal cord lipoma 10.2 F2 FGD1
20 myotonic dystrophy 10.2 F10 F2 F5
21 pregnancy loss, recurrent 2 10.2 F10 F2 F5
22 otopalatodigital syndrome, type i 10.2 F10 F2 F5
23 pregnancy loss, recurrent 1 10.2 F10 F2 F5
24 oguchi disease-2 10.2 F10 F2 F5
25 hendra virus infection 10.2 F2 F5
26 aids dementia complex 10.2 F10 F2 F5
27 immunodeficiency, common variable, 6 10.2 F10 F2 F5
28 sertoli-leydig cell tumor 10.2 F10 F2 F5
29 leukocyte disease 10.1 F10 F2 F5
30 bone development disease 10.1 F10 F2 F5
31 stroke, ischemic 10.1 F2 F5
32 perichondritis of auricle 10.1 F10 F2 F5
33 left-right axis malformations 10.1 F2 F5
34 leukemia 10.1
35 lymphoma 10.1
36 lymphocytic colitis 10.1 F2 F5
37 spastic paraplegia 26, autosomal recessive 10.0 CDC42 FGD4
38 photosensitive epilepsy 10.0 F2 F5
39 bronchiolitis obliterans 10.0
40 bronchiolitis 10.0
41 acute leukemia 9.9
42 aplastic anemia 9.9
43 amyloidosis 9.9
44 al amyloidosis 9.9
45 multiple myeloma 9.9
46 myelofibrosis 9.8
47 aspergillosis 9.7
48 engraftment syndrome 9.7
49 adult t-cell leukemia 9.7
50 t-cell leukemia 9.7

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



Diseases related to Scott Syndrome

Symptoms & Phenotypes for Scott Syndrome

Symptoms by clinical synopsis from OMIM:

262890

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 386)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
2
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1 30516-87-1 35370
3
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
5
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
6
Aspirin Approved, Vet_approved Phase 4,Early Phase 1 50-78-2 2244
7
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2 33069-62-4 36314
8
Saquinavir Approved, Investigational Phase 4,Phase 2 127779-20-8 60787
9
Indinavir Approved Phase 4,Phase 2 150378-17-9 5362440
10
Efavirenz Approved, Investigational Phase 4,Phase 2 154598-52-4 64139
11
Nevirapine Approved Phase 4,Phase 1,Phase 2 129618-40-2 4463
12
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
13
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2 147127-20-6 464205
14
Fluconazole Approved Phase 4 86386-73-4 3365
15
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
16
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
17
Everolimus Approved Phase 4,Phase 2 159351-69-6 6442177
18
Cortisone acetate Approved Phase 4,Phase 3 1950-04-4, 50-04-4 5745
19
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
20
Aztreonam Approved Phase 4 78110-38-0 5362041 5742832
21
Sirolimus Approved, Investigational Phase 4,Phase 2 53123-88-9 5284616 6436030 46835353
22
Warfarin Approved Phase 4 81-81-2 6691 54678486
23
Apixaban Approved Phase 4,Phase 3 503612-47-3 10182969
24
Clopidogrel Approved, Nutraceutical Phase 4 120202-66-6, 113665-84-2 60606
25 Estradiol valerate Phase 4 979-32-8
26 GABA Agents Phase 4,Phase 2
27 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
28 Contraceptive Agents Phase 4,Phase 2
29 Contraceptives, Oral Phase 4,Phase 2
30 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
31 Hormone Antagonists Phase 4,Phase 3,Phase 2
32 Tranquilizing Agents Phase 4,Phase 2
33 Hormones Phase 4,Phase 3,Phase 2
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
35 Estradiol 17 beta-cypionate Phase 4
36 Estradiol 3-benzoate Phase 4
37 Estrogens Phase 4
38 Polyestradiol phosphate Phase 4
39 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
40 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
41 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Psychotropic Drugs Phase 4,Phase 3,Phase 2
43 Lamivudine, zidovudine drug combination Phase 4,Phase 3,Phase 2
44 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
45 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
47 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
48 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
49 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
50
Cortisone Phase 4,Phase 3 53-06-5 222786

Interventional clinical trials:

(show top 50) (show all 220)
id Name Status NCT ID Phase
1 Prevention of Menstrual Migraines: Effects of Estrogen Add-back During the HFI in Patients Using Continuous Oral Contraceptives. Unknown status NCT01251263 Phase 4
2 Cortisone Injection vs Trigger Point Dry Needling Fin the Treatment of Greater Trochanter Pain Syndrome: A Pilot Study Completed NCT02639039 Phase 4
3 Safety Study of Aztreonam Lysine for Inhalation (AZLI) in the Treatment of Early Bronchiolitis Obliterans Syndrome (BOS) Completed NCT01469364 Phase 4
4 Comparison of Antipsychotics for Metabolic Problems in Schizophrenia or Schizoaffective Disorder Completed NCT00423878 Phase 4
5 Clinical Trial of Brain-Penetrating HIV Drugs to Prevent Cognitive Impairment in China Completed NCT01340950 Phase 4
6 Influence of the MDR1 Genotype on Blood Levels of Indinavir and Saquinavir in Healthy Volunteers Completed NCT00050180 Phase 4
7 A Study to Compare the Use of Fluconazole as Continuous Therapy Versus Periodic Therapy in HIV-Positive Patients With Recurrent Thrush Completed NCT00000951 Phase 4
8 The Dual Antiplatelet Therapy Study (DAPT Study) Completed NCT00977938 Phase 4
9 Apixaban for the Secondary Prevention of Thromboembolism Among Patients With the AntiphosPholipid Syndrome Recruiting NCT02295475 Phase 4
10 The Effect of Antihypertensive Medication Timing on Morbidity and Mortality Enrolling by invitation NCT02990663 Phase 4
11 A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in Females Unknown status NCT00547469 Phase 2, Phase 3
12 Safety and Effectiveness of Three Anti-HIV Drugs Combined in One Pill (Trizivir) Unknown status NCT00004981 Phase 3
13 Efficacy of Botulinum Toxin In Scleroderma-Associated Raynaud's Syndrome Completed NCT02165111 Phase 3
14 Comparison of Oral Valganciclovir and Placebo for the Prevention of Cytomegalovirus (CMV) After Lung Transplantation Completed NCT00227370 Phase 3
15 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
16 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
17 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3
18 Erythropoietin (EPO)+/- Filgrastim (G-CSF) vs. Supportive Therapy Alone for Patients With Myelodysplastic Syndromes Completed NCT00003138 Phase 3
19 A Safety and Efficacy Study of a New Eye Drop Formulation in Patients With Dry Eye Disease. Completed NCT02553772 Phase 3
20 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3
21 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
22 Targeting Inflammation Using Salsalate for Type 2 Diabetes-stage II Completed NCT00799643 Phase 2, Phase 3
23 Combination Chemotherapy With or Without Gemtuzumab in Treating Young Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT00372593 Phase 3
24 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
25 Duloxetine in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer Completed NCT00489411 Phase 3
26 Antifungal Therapy for Fever and Neutropenia in Patients Receiving Treatment for Hematologic Cancer Completed NCT00002742 Phase 3
27 Study of Lopinavir, Ritonavir, Tenofovir and Emtricitabine in HIV-Infected Antiretroviral Naïve Subjects Completed NCT00043966 Phase 3
28 S0715: Acetyl-L-Carnitine in Preventing Neuropathy in Women With Stage I, II, or IIIA Breast Cancer Undergoing Chemo Completed NCT00775645 Phase 3
29 Glutamic Acid in Reducing Nerve Damage Caused by Vincristine in Young Patients With Cancer Completed NCT00369564 Phase 3
30 Efficacy and Safety Study of StemEx®, to Treat Subjects With High Risk Hematologic Malignancies, Following Myeloablative Therapy Completed NCT00469729 Phase 2, Phase 3
31 A Study to Evaluate Efficacy and Safety of Lifitegrast in Subjects With Dry Eye Completed NCT02284516 Phase 3
32 Alpha-Lipoic Acid in Preventing Peripheral Neuropathy in Patients Receiving Chemotherapy for Cancer Completed NCT00112996 Phase 3
33 Dexamethasone Compared With Prednisone During Induction Therapy and MTX With or Without Leucovorin During Maintenance Therapy in Treating Patients With Newly Diagnosed High-Risk Acute Lymphoblastic Leukemia Completed NCT00075725 Phase 3
34 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3
35 The Effect of Teaching HIV-Infected Patients About HIV and Treatment Completed NCT00002409 Phase 3
36 Comparison of Two Anti-HIV Regimens That Include One of Two Forms of Didanosine (ddI) Completed NCT00002224 Phase 3
37 Safety and Effectiveness of Tenofovir Disoproxil Fumarate (Tenofovir DF) Plus Other Anti-HIV Drugs in HIV-Infected Patients Completed NCT00002450 Phase 3
38 Vincristine, Dactinomycin, and Doxorubicin With or Without Radiation Therapy or Observation Only in Treating Younger Patients Who Are Undergoing Surgery for Newly Diagnosed Stage I, Stage II, or Stage III Wilms' Tumor Completed NCT00352534 Phase 3
39 Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer Completed NCT00002611 Phase 3
40 Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors Completed NCT00002610 Phase 3
41 An International Study to Evaluate Recombinant Interleukin-2 in HIV Positive Patients Taking Anti-retroviral Therapy Completed NCT00004978 Phase 3
42 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
43 Topical Ophthalmic AGN-195263 for the Treatment of Evaporative Dry Eye Recruiting NCT02965846 Phase 3
44 Safety and Efficacy of KPI-121 Compared to Placebo in Subjects With Dry Eye Disease Recruiting NCT02819284 Phase 3
45 EZN-2279 in Patients With ADA-SCID Recruiting NCT01420627 Phase 3
46 Safety and Efficacy of KPI-12 in Subjects With Dry Eye Disease Recruiting NCT02813265 Phase 3
47 A Study to Assess the Efficacy and Safety of Abatacept in Adults With Active Primary Sjögrens Syndrome Recruiting NCT02915159 Phase 3
48 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
49 Controlled Study of Rigosertib Versus Physician's Choice of Treatment in MDS Patients After Failure of an HMA Recruiting NCT02562443 Phase 3
50 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations Recruiting NCT02883049 Phase 3

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
Testes, B Lymphoblasts, Endothelial, Whole Blood

Publications for Scott Syndrome

Articles related to Scott Syndrome:

(show top 50) (show all 69)
id Title Authors Year
1
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. ( 28103835 )
2017
2
A new mutation of ANO6 in two familial cases of Scott syndrome. ( 27879994 )
2016
3
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. ( 27551683 )
2016
4
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. ( 27544718 )
2016
5
Platelets and coagulation in thrombus formation: aberrations in the Scott syndrome. ( 27207414 )
2016
6
Combined quantification of the global proteome, phosphoproteome and proteolytic cleavage to characterize altered platelet functions in the human Scott syndrome. ( 27535140 )
2016
7
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
8
Aarskog-Scott syndrome presenting with psychosis: A case study. ( 25911513 )
2015
9
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706 )
2015
10
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. ( 24770546 )
2014
11
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). ( 25227149 )
2014
12
A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263 )
2013
13
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637 )
2013
14
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394 )
2013
15
Aarskog-Scott syndrome. ( 23673187 )
2013
16
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847 )
2012
17
Mania with Aarskog-Scott syndrome. ( 22565081 )
2012
18
Diagnosis of Scott syndrome in patient with bleeding disorder of unknown cause. ( 22027759 )
2012
19
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). ( 23061683 )
2012
20
Aarskog-scott syndrome: a review and case report. ( 25206170 )
2012
21
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585 )
2011
22
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. ( 21511967 )
2011
23
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. ( 21911474 )
2011
24
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). ( 21654724 )
2011
25
Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome. ( 21958383 )
2011
26
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. ( 20082460 )
2010
27
A genome-wide linkage scan in German shepherd dogs localizes canine platelet procoagulant deficiency (Scott syndrome) to canine chromosome 27. ( 19854246 )
2010
28
Laboratory monitoring of Scott Syndrome. ( 19814742 )
2010
29
Evaluation of platelet function screening tests to detect platelet procoagulant deficiency in dogs with Scott syndrome. ( 19351331 )
2009
30
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. ( 19110080 )
2009
31
Absence of platelet-dependent fibrin formation in a patient with Scott syndrome. ( 19572071 )
2009
32
Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. ( 18844827 )
2008
33
Cerebrovascular disease associated with Aarskog-Scott syndrome. ( 17294235 )
2007
34
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
35
Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. ( 17723137 )
2007
36
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. ( 17152066 )
2007
37
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726 )
2006
38
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916 )
2006
39
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
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
Characterisation of lymphocyte responses to Ca2+ in Scott syndrome. ( 14961172 )
2004
43
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
44
Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids. ( 15164759 )
2004
45
Subproteomics analysis of phosphorylated proteins: application to the study of B-lymphoblasts from a patient with Scott syndrome. ( 12124928 )
2002
46
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). ( 10930571 )
2000
47
Assessment of the expression of candidate human plasma membrane phospholipid scramblase in Scott syndrome cells. ( 10064019 )
1999
48
Impaired Ca2+-induced tyrosine phosphorylation and defective lipid scrambling in erythrocytes from a patient with Scott syndrome: a study using an inhibitor for scramblase that mimics the defect in Scott syndrome. ( 9490700 )
1998
49
Impaired redistribution of aminophospholipids with distinctive cell shape change during Ca2+-induced activation of platelets from a patient with Scott syndrome. ( 9576181 )
1998
50
Expression of proteins controlling transbilayer movement of plasma membrane phospholipids in the B lymphocytes from a patient with Scott syndrome. ( 9716599 )
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

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 ARHGEF2 CDC42 FGD1 FGD3 FGD4 MCF2
2
Show member pathways
12.4 ARHGEF2 CDC42 FGD1 FGD3 FGD4 MCF2
3 12.23 CDC42 F2 FGD1 FGD3
4
Show member pathways
11.84 F10 F2 F5
5 11.72 F10 F2 F5
6 10.83 CDC42 FARP2
7 10.76 CDC42 FGD1 FGD4 MCF2
8 10.5 F10 F2
9 10.4 CDC42 FARP2 FGD1 MCF2

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 Golgi apparatus GO:0005794 9.5 ABCA1 ARHGEF2 F5 FGD1 FGD3 FGD4
2 ruffle GO:0001726 9.33 FGD1 FGD3 FGD4
3 cytoskeleton GO:0005856 9.23 ARHGEF2 CDC42 FARP2 FGD1 FGD3 FGD4

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.88 ARHGEF2 FARP2 FGD1 FGD3 FGD4 MCF2
2 ER to Golgi vesicle-mediated transport GO:0006888 9.73 F10 F2 F5
3 actin cytoskeleton organization GO:0030036 9.73 CDC42 FGD1 FGD3 FGD4
4 positive regulation of apoptotic process GO:0043065 9.73 ANO6 ARHGEF2 FGD1 FGD3 FGD4 MCF2
5 blood coagulation GO:0007596 9.72 ANO6 CDC42 F10 F2 F5
6 platelet activation GO:0030168 9.7 F2 F5 PLSCR1
7 regulation of GTPase activity GO:0043087 9.67 FGD1 FGD3 FGD4
8 regulation of cell shape GO:0008360 9.67 F2 FGD1 FGD3 FGD4
9 hemostasis GO:0007599 9.63 F10 F2 F5
10 signal peptide processing GO:0006465 9.55 F10 F2
11 blood coagulation, intrinsic pathway GO:0007597 9.54 F10 F2
12 peptidyl-glutamic acid carboxylation GO:0017187 9.51 F10 F2
13 phospholipid scrambling GO:0017121 9.48 ANO6 PLSCR1
14 filopodium assembly GO:0046847 9.46 CDC42 FGD1 FGD3 FGD4
15 regulation of small GTPase mediated signal transduction GO:0051056 9.43 ARHGEF2 CDC42 FGD1 FGD3 FGD4 MCF2
16 regulation of Rho protein signal transduction GO:0035023 9.1 ARHGEF2 FARP2 FGD1 FGD3 FGD4 MCF2

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

id Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 9.55 ARHGEF2 FGD1 FGD3 FGD4 MCF2
2 Rac guanyl-nucleotide exchange factor activity GO:0030676 9.32 ARHGEF2 FARP2
3 phospholipid scramblase activity GO:0017128 9.26 ANO6 PLSCR1
4 small GTPase binding GO:0031267 9.26 ABCA1 FGD1 FGD3 FGD4
5 Rho guanyl-nucleotide exchange factor activity GO:0005089 9.1 ARHGEF2 FARP2 FGD1 FGD3 FGD4 MCF2

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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