SCTS
MCID: SCT005
MIFTS: 47

Scott Syndrome (SCTS)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Scott Syndrome

MalaCards integrated aliases for Scott Syndrome:

Name: Scott Syndrome 58 12 77 54 60 76 38 30 13 56 6 45 15 41 74
Prothrombin Consumption Deficiency 58 12 76
Bdplt7 58 12 76
Scts 58 12 76
Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor X 58 76
Bleeding Abnormality Due to Deficiency of Platelet Biding of Factor X 12
Bleeding Disorder, Platelet-Type, 7; Bdplt7 58
Prothrombin Consumption Inhibitor, Familial 58
Familial Prothrombin Consumption Inhibitor 12
Prothrombin Consumption Inhibitor Familial 76
Prothrombin Conversion Defect, Familial 58
Familial Prothrombin Conversion Defect 12
Prothrombin Conversion Defect Familial 76
Platelet Factor X Receptor Deficiency 54
Bleeding Disorder, Platelet-Type, 7 58
Platelet-Type Bleeding Disorder 7 12
Bleeding Disorder Platelet-Type 7 76

Characteristics:

Orphanet epidemiological data:

60
scott syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
scott syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111052
OMIM 58 262890
KEGG 38 H01162
ICD10 via Orphanet 35 D69.8
UMLS via Orphanet 75 C0796149
Orphanet 60 ORPHA806
MedGen 43 C0796149
SNOMED-CT via HPO 70 248250000 258211005 64779008
UMLS 74 C0796149

Summaries for Scott Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Scott Syndrome, also known as prothrombin consumption deficiency, is related to aarskog-scott syndrome and unilateral focal polymicrogyria. An important gene associated with Scott Syndrome is ANO6 (Anoctamin 6), and among its related pathways/superpathways are Ion channel transport and Warfarin Pathway, Pharmacodynamics. The drugs Thrombin and Neuroserpin have been mentioned in the context of this disorder. Affiliated tissues include testes, b lymphoblasts and endothelial, and related phenotypes are abnormal bleeding and factor x activation deficiency

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has material basis in homozygous mutation in the TMEM16F gene on chromosome 12q12.

OMIM : 58 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 : 76 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 : 77 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 230)
# Related Disease Score Top Affiliating Genes
1 aarskog-scott syndrome 34.2 ARHGEF2 FGD1
2 unilateral focal polymicrogyria 30.1 ARHGEF2 FGD1
3 factor x deficiency 29.6 F10 F2
4 spondylocarpotarsal synostosis syndrome 12.3
5 sacrococcygeal teratoma 11.4
6 chediak-higashi syndrome 11.4
7 desbuquois dysplasia 2 11.4
8 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 11.3
9 pelvic hypoplasia with lower-limb arthrogryposis 11.2
10 epiphyseal dysplasia hearing loss dysmorphism 11.2
11 larsen syndrome 11.1
12 lymphoma 10.6
13 leukemia 10.6
14 myeloma, multiple 10.5
15 myelodysplastic syndrome 10.2
16 acute leukemia 10.2
17 mucositis 10.2
18 hepatic infarction 10.2 F2 FGD1
19 leech infestation 10.2 F10 F2
20 amyloidosis 10.2
21 prothrombin deficiency, congenital 10.2 F10 F2
22 inherited blood coagulation disease 10.2 ANO6 F2
23 bronchiolitis obliterans 10.2
24 bronchiolitis 10.2
25 antithrombin iii deficiency 10.2 F10 F2
26 aplastic anemia 10.2
27 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
28 pulmonary artery disease 10.2 F10 F2
29 factor vii deficiency 10.2 F10 F2
30 hemophilia b 10.1 F10 F2
31 lymphoma, hodgkin, classic 10.1
32 leukemia, acute lymphoblastic 10.1
33 lymphocytic leukemia 10.1
34 influenza 10.1
35 al amyloidosis 10.1
36 thrombophilia due to activated protein c resistance 10.1 F10 F2
37 myeloid leukemia 10.1
38 afibrinogenemia 10.1 F10 F2
39 b-cell lymphomas 10.1
40 myelofibrosis 10.1
41 thrombophilia due to thrombin defect 10.0 F10 F2
42 leukemia, acute myeloid 10.0
43 diffuse large b-cell lymphoma 10.0
44 hepatitis 10.0
45 thalassemia 10.0
46 breast cancer 10.0
47 autoimmune disease 1 10.0
48 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
49 aspergillosis 10.0
50 adult t-cell leukemia 10.0

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:

33
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 33 HP:0001892
2 factor x activation deficiency 33 HP:0008354

Symptoms via clinical synopsis from OMIM:

58
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

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

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 Not Applicable
3 Markers of Defective Membrane Remodelling in Scott-like Syndromes Terminated NCT00617721

Search NIH Clinical Center for Scott Syndrome

Cochrane evidence based reviews: scott syndrome

Genetic Tests for Scott Syndrome

Genetic tests related to Scott Syndrome:

# Genetic test Affiliating Genes
1 Scott Syndrome 30 ANO6

Anatomical Context for Scott Syndrome

MalaCards organs/tissues related to Scott Syndrome:

42
Testes, B Lymphoblasts, Endothelial, Whole Blood

Publications for Scott Syndrome

Articles related to Scott Syndrome:

(show top 50) (show all 72)
# Title Authors Year
1
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. ( 30554721 )
2019
2
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. ( 28103835 )
2017
3
Aarskog-Scott syndrome: An unusual cause of scoliosis. ( 29021683 )
2017
4
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome. ( 28587322 )
2017
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 novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. ( 27544718 )
2016
8
Combined quantification of the global proteome, phosphoproteome and proteolytic cleavage to characterize altered platelet functions in the human Scott syndrome. ( 27535140 )
2016
9
A new mutation of ANO6 in two familial cases of Scott syndrome. ( 27879994 )
2016
10
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
11
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. ( 26029706 )
2015
12
Aarskog-Scott syndrome presenting with psychosis: A case study. ( 25911513 )
2015
13
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). ( 25227149 )
2014
14
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. ( 24770546 )
2014
15
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637 )
2013
16
Aarskog-Scott syndrome. ( 23673187 )
2013
17
A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263 )
2013
18
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394 )
2013
19
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). ( 23061683 )
2012
20
Diagnosis of Scott syndrome in patient with bleeding disorder of unknown cause. ( 22027759 )
2012
21
Aarskog-scott syndrome: a review and case report. ( 25206170 )
2012
22
Mania with Aarskog-Scott syndrome. ( 22565081 )
2012
23
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847 )
2012
24
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). ( 21654724 )
2011
25
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585 )
2011
26
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. ( 21511967 )
2011
27
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. ( 21911474 )
2011
28
Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome. ( 21958383 )
2011
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
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. ( 20082460 )
2010
32
Evaluation of platelet function screening tests to detect platelet procoagulant deficiency in dogs with Scott syndrome. ( 19351331 )
2009
33
Absence of platelet-dependent fibrin formation in a patient with Scott syndrome. ( 19572071 )
2009
34
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. ( 19110080 )
2009
35
Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. ( 18844827 )
2008
36
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
37
Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. ( 17723137 )
2007
38
Cerebrovascular disease associated with Aarskog-Scott syndrome. ( 17294235 )
2007
39
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. ( 17152066 )
2007
40
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726 )
2006
41
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916 )
2006
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
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). ( 15809997 )
2005
45
Characterisation of lymphocyte responses to Ca2+ in Scott syndrome. ( 14961172 )
2004
46
Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids. ( 15164759 )
2004
47
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
48
Subproteomics analysis of phosphorylated proteins: application to the study of B-lymphoblasts from a patient with Scott syndrome. ( 12124928 )
2002
49
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). ( 10930571 )
2000
50
Assessment of the expression of candidate human plasma membrane phospholipid scramblase in Scott syndrome cells. ( 10064019 )
1999

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

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

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

GO Terms for Scott Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.23 ABCA1 ANO10 ANO2 ANO6 ARHGEF2 F10
2 chloride channel complex GO:0034707 8.96 ANO2 ANO6

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

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

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

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

Sources for Scott Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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