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 57 12 76 53 59 75 37 29 13 55 6 40 73
Prothrombin Consumption Deficiency 57 12 75
Bdplt7 57 12 75
Scts 57 12 75
Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor X 57 75
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 75
Prothrombin Conversion Defect, Familial 57
Familial Prothrombin Conversion Defect 12
Prothrombin Conversion Defect Familial 75
Platelet Factor X Receptor Deficiency 53
Bleeding Disorder, Platelet-Type, 7 57
Platelet-Type Bleeding Disorder 7 12
Bleeding Disorder Platelet-Type 7 75

Characteristics:

Orphanet epidemiological data:

59
scott syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
scott syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 262890
Disease Ontology 12 DOID:0111052
ICD10 33 D69.8
Orphanet 59 ORPHA806
UMLS via Orphanet 74 C0796149
ICD10 via Orphanet 34 D69.8
MedGen 42 C0796149
MeSH 44 D006470
KEGG 37 H01162
SNOMED-CT via HPO 69 258211005 248250000 64779008
UMLS 73 C0796149

Summaries for Scott Syndrome

NIH Rare Diseases : 53 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 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, and related phenotypes are abnormal bleeding and factor x activation deficiency

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 153)
# Related Disease Score Top Affiliating Genes
1 aarskog-scott syndrome 34.4 ARHGEF2 FGD1
2 unilateral focal polymicrogyria 30.4 ARHGEF2 FGD1
3 factor x deficiency 29.4 F10 F2 F5
4 baratela-scott syndrome 11.9
5 spondylocarpotarsal synostosis syndrome 11.8
6 sacrococcygeal teratoma 11.2
7 chediak-higashi syndrome 11.2
8 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 11.1
9 pelvic hypoplasia with lower-limb arthrogryposis 11.0
10 epiphyseal dysplasia hearing loss dysmorphism 11.0
11 larsen syndrome 10.9
12 hepatic infarction 10.6 F2 FGD1
13 leech infestation 10.6 F10 F2
14 acquired hemophilia 10.5 F10 F5
15 paracetamol poisoning 10.4 F2 F5
16 spinal cord infarction 10.4 F2 F5
17 livedoid vasculopathy 10.4 F2 F5
18 sudden sensorineural hearing loss 10.4 F2 F5
19 cerebral sinovenous thrombosis 10.4 F2 F5
20 hemoglobin e disease 10.4 F2 F5
21 sagittal sinus thrombosis 10.4 F2 F5
22 factor vii deficiency 10.4 F10 F2
23 ischemic colitis 10.4 F2 F5
24 cryptogenic cirrhosis 10.4 F2 F5
25 factor viii deficiency 10.4 F2 F5
26 sneddon syndrome 10.4 F2 F5
27 quebec platelet disorder 10.4 F10 F5
28 porencephaly 10.4 F2 F5
29 retinal artery occlusion 10.4 F2 F5
30 hemophilia b 10.4 F10 F2
31 retinal vascular occlusion 10.3 F2 F5
32 thrombophlebitis 10.3 F2 F5
33 prothrombin deficiency 10.3 F2 F5
34 post-thrombotic syndrome 10.3 F2 F5
35 hemophilia a 10.3 F10 F5
36 peripheral vertigo 10.3 F2 F5
37 central retinal vein occlusion 10.3 F2 F5
38 portal vein thrombosis 10.3 F2 F5
39 patent foramen ovale 10.3 F2 F5
40 arteritic anterior ischemic optic neuropathy 10.3 F2 F5
41 dysfibrinogenemia 10.3 F2 F5
42 protein s deficiency 10.2 F2 F5
43 acute liver failure 10.2 F2 F5
44 severe hemophilia a 10.2 F2 F5
45 leukemia 10.2
46 lymphoma 10.2
47 vein disease 10.2 F2 F5
48 placental abruption 10.2 F2 F5
49 thrombasthenia 10.2 F2 F5
50 protein c deficiency 10.2 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:

57
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:

32
# 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):


# 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 Not Applicable
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 29 ANO6

Anatomical Context for Scott Syndrome

MalaCards organs/tissues related to Scott Syndrome:

41
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 novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. ( 27551683 )
2016
5
Platelets and coagulation in thrombus formation: aberrations in the Scott syndrome. ( 27207414 )
2016
6
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. ( 27544718 )
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 new mutation of ANO6 in two familial cases of Scott syndrome. ( 27879994 )
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
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. ( 23211637 )
2013
15
Aarskog-Scott syndrome. ( 23673187 )
2013
16
A novel mutation in a mother and a son with Aarskog-Scott syndrome. ( 23443263 )
2013
17
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. ( 23169394 )
2013
18
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). ( 23061683 )
2012
19
Diagnosis of Scott syndrome in patient with bleeding disorder of unknown cause. ( 22027759 )
2012
20
Aarskog-scott syndrome: a review and case report. ( 25206170 )
2012
21
Mania with Aarskog-Scott syndrome. ( 22565081 )
2012
22
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. ( 22211847 )
2012
23
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). ( 21654724 )
2011
24
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. ( 21739585 )
2011
25
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. ( 21511967 )
2011
26
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. ( 21911474 )
2011
27
Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome. ( 21958383 )
2011
28
A genome-wide linkage scan in German shepherd dogs localizes canine platelet procoagulant deficiency (Scott syndrome) to canine chromosome 27. ( 19854246 )
2010
29
Laboratory monitoring of Scott Syndrome. ( 19814742 )
2010
30
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. ( 20082460 )
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
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
36
Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. ( 17723137 )
2007
37
Cerebrovascular disease associated with Aarskog-Scott syndrome. ( 17294235 )
2007
38
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. ( 17152066 )
2007
39
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. ( 16688726 )
2006
40
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. ( 16953916 )
2006
41
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
42
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. ( 15790791 )
2005
43
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). ( 15809997 )
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
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
# 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:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.23 ABCA1 ANO6 ARHGEF2 F10 F2 F5
2 endoplasmic reticulum lumen GO:0005788 9.13 F10 F2 F5

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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