MCID: SCT005
MIFTS: 48

Scott Syndrome

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Scott Syndrome

MalaCards integrated aliases for Scott Syndrome:

Name: Scott Syndrome 53 12 72 49 55 71 36 28 13 51 69
Prothrombin Consumption Deficiency 53 12 71
Bdplt7 53 12 71
Scts 53 12 71
Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor X 53 71
Bleeding Abnormality Due to Deficiency of Platelet Biding of Factor X 12
Bleeding Disorder, Platelet-Type, 7; Bdplt7 53
Prothrombin Consumption Inhibitor, Familial 53
Familial Prothrombin Consumption Inhibitor 12
Prothrombin Consumption Inhibitor Familial 71
Prothrombin Conversion Defect, Familial 53
Familial Prothrombin Conversion Defect 12
Prothrombin Conversion Defect Familial 71
Platelet Factor X Receptor Deficiency 49
Bleeding Disorder, Platelet-Type, 7 53
Platelet-Type Bleeding Disorder 7 12
Bleeding Disorder Platelet-Type 7 71

Characteristics:

Orphanet epidemiological data:

55
scott syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
scott syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 262890
Disease Ontology 12 DOID:0111052
ICD10 32 D69.8
Orphanet 55 ORPHA806
UMLS via Orphanet 70 C0796149
ICD10 via Orphanet 33 D69.8
MedGen 39 C0796149
MeSH 41 D006470
KEGG 36 H01162
SNOMED-CT via HPO 65 258211005 248250000 64779008
UMLS 69 C0796149

Summaries for Scott Syndrome

NIH Rare Diseases : 49 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 prothrombin consumption deficiency, is related to aarskog-scott syndrome and unilateral focal polymicrogyria, 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 Thrombin and Neuroserpin have been mentioned in the context of this disorder. Affiliated tissues include b lymphoblasts, testes and endothelial.

OMIM : 53 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 : 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.

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 115)
# Related Disease Score Top Affiliating Genes
1 aarskog-scott syndrome 34.1 ARHGEF2 FGD1
2 unilateral focal polymicrogyria 30.1 ARHGEF2 FGD1
3 baratela-scott syndrome 11.9
4 spondylocarpotarsal synostosis syndrome 11.8
5 sacrococcygeal teratoma 11.2
6 chediak-higashi syndrome 11.2
7 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 11.0
8 pelvic hypoplasia with lower-limb arthrogryposis 11.0
9 epiphyseal dysplasia hearing loss dysmorphism 11.0
10 limb transversal defect-cardiac anomaly syndrome 11.0
11 leech infestation 10.4 F10 F2
12 hepatic infarction 10.4 F2 FGD1
13 acquired hemophilia 10.3 F10 F5
14 paracetamol poisoning 10.3 F2 F5
15 spinal cord infarction 10.2 F2 F5
16 livedoid vasculopathy 10.2 F2 F5
17 sudden sensorineural hearing loss 10.2 F2 F5
18 cerebral sinovenous thrombosis 10.2 F2 F5
19 hemoglobin e disease 10.2 F2 F5
20 factor vii deficiency 10.2 F10 F2
21 sagittal sinus thrombosis 10.2 F2 F5
22 ischemic colitis 10.2 F2 F5
23 quebec platelet disorder 10.2 F10 F5
24 cryptogenic cirrhosis 10.2 F2 F5
25 factor viii deficiency 10.2 F2 F5
26 sneddon syndrome 10.2 F2 F5
27 porencephaly 10.2 F2 F5
28 hemophilia b 10.2 F10 F2
29 retinal artery occlusion 10.2 F2 F5
30 retinal vascular occlusion 10.2 F2 F5
31 hemophilia a 10.2 F10 F5
32 factor v deficiency 10.2 F2 F5
33 leukemia 10.2
34 prothrombin deficiency 10.2 F2 F5
35 thrombophlebitis 10.2 F2 F5
36 lymphoma 10.2
37 post-thrombotic syndrome 10.2 F2 F5
38 peripheral vertigo 10.2 F2 F5
39 central retinal vein occlusion 10.2 F2 F5
40 portal vein thrombosis 10.2 F2 F5
41 arteritic anterior ischemic optic neuropathy 10.2 F2 F5
42 dysfibrinogenemia 10.2 F2 F5
43 protein s deficiency 10.1 F2 F5
44 acute liver failure 10.1 F2 F5
45 vein disease 10.1 F2 F5
46 severe hemophilia a 10.1 F2 F5
47 placental abruption 10.1 F2 F5
48 thrombasthenia 10.1 F2 F5
49 bronchiolitis obliterans 10.1
50 bronchiolitis 10.1

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:

53
Heme:
hemorrhagic diathesis

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


Clinical features from OMIM:

262890

Human phenotypes related to Scott Syndrome:

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

Drugs & Therapeutics for Scott Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational
2 Neuroserpin
3 Astragalus Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Disease Gene Identification Unknown status NCT00916903
2 Extra Corporeal Membrane Oxygenation in the Acute Respiratory Distress Syndrome: Utility of a Biomarker to Assess the Membrane Efficiency in Improving Oxygenation Completed NCT02879344
3 Markers of Defective Membrane Remodelling in Scott-like Syndromes Terminated NCT00617721

Search NIH Clinical Center for Scott Syndrome

Genetic Tests for Scott Syndrome

Genetic tests related to Scott Syndrome:

# Genetic test Affiliating Genes
1 Scott Syndrome 28 ANO6

Anatomical Context for Scott Syndrome

MalaCards organs/tissues related to Scott Syndrome:

38
B Lymphoblasts, Testes, Endothelial, Whole Blood

Publications for Scott Syndrome

Articles related to Scott Syndrome:

(show top 50) (show all 71)
# Title Authors Year
1
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. ( 28103835 )
2017
2
Aarskog-Scott syndrome: An unusual cause of scoliosis. ( 29021683 )
2017
3
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. ( 28587322 )
2017
4
A new mutation of ANO6 in two familial cases of Scott syndrome. ( 27879994 )
2016
5
Platelets and coagulation in thrombus formation: aberrations in the Scott syndrome. ( 27207414 )
2016
6
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. ( 27551683 )
2016
7
Combined quantification of the global proteome, phosphoproteome and proteolytic cleavage to characterize altered platelet functions in the human Scott syndrome. ( 27535140 )
2016
8
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. ( 27544718 )
2016
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
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706 )
2015
11
Aarskog-Scott syndrome presenting with psychosis: A case study. ( 25911513 )
2015
12
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). ( 25227149 )
2014
13
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. ( 24770546 )
2014
14
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394 )
2013
15
Aarskog-Scott syndrome. ( 23673187 )
2013
16
A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263 )
2013
17
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637 )
2013
18
Aarskog-scott syndrome: a review and case report. ( 25206170 )
2012
19
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847 )
2012
20
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). ( 23061683 )
2012
21
Diagnosis of Scott syndrome in patient with bleeding disorder of unknown cause. ( 22027759 )
2012
22
Mania with Aarskog-Scott syndrome. ( 22565081 )
2012
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
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585 )
2011
27
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. ( 21511967 )
2011
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
Laboratory monitoring of Scott Syndrome. ( 19814742 )
2010
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
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. ( 19110080 )
2009
34
Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. ( 18844827 )
2008
35
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. ( 17152066 )
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
Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. ( 17723137 )
2007
39
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916 )
2006
40
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726 )
2006
41
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). ( 15809997 )
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
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. ( 15790791 )
2005
44
Characterisation of lymphocyte responses to Ca2+ in Scott syndrome. ( 14961172 )
2004
45
Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids. ( 15164759 )
2004
46
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
47
Subproteomics analysis of phosphorylated proteins: application to the study of B-lymphoblasts from a patient with Scott syndrome. ( 12124928 )
2002
48
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). ( 10930571 )
2000
49
Assessment of the expression of candidate human plasma membrane phospholipid scramblase in Scott syndrome cells. ( 10064019 )
1999
50
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

Variations for Scott Syndrome

ClinVar genetic disease variations for Scott Syndrome:

6
# 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

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

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....