MCID: SCT005
MIFTS: 50

Scott Syndrome malady

Rare diseases, Blood diseases categories
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Summaries for Scott Syndrome

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism... more...

MalaCards: Scott Syndrome, also known as platelet factor x receptor deficiency, is related to aarskog-scott syndrome and cerebrovascular disease. An important gene associated with Scott Syndrome is ANO6 (anoctamin 6), and among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and G protein signaling Regulation of CDC42 activity. The compounds bothrojaracin and dx 9065a have been mentioned in the context of this disorder. Affiliated tissues include b lymphoblasts, testes and endothelial, and related mouse phenotypes are skeleton and homeostasis/metabolism.

Description from OMIM:47 262890

Aliases & Classifications for Scott Syndrome

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43NIH Rare Diseases, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

49
scott syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

scott syndrome 43 47 45 49 62
platelet factor x receptor deficiency 43


External Ids:

OMIM47 262890
ICD10 via Orphanet26 D69.8
SNOMED-CT via Orphanet59 128098009
UMLS via Orphanet63 C0796149

Related Diseases for Scott Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Scott Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1aarskog-scott syndrome31.2MCF2, PLEK, CDC42, FGD5, FGD1, FGD3
2cerebrovascular disease30.0F5, F10, ABCA1, F2
3epiphyseal dysplasia hearing loss dysmorphism10.2
4fibular aplasia, tibial campomelia, and oligosyndactyly syndrome10.2
5pelvic dysplasia arthrogryposis of lower limbs10.2
6limb transversal defect - cardiac anomaly10.2
7factor xii deficiency10.1F5
8homocysteinemia10.1F5
9factor viii deficiency10.1F5
10purpura fulminans10.1F5
11central retinal vein occlusion10.1F5
12glanzmann's thrombasthenia10.1F10, TNXA
13hemophilia b10.1F2, F10
14inherited hypoprothrombinemia10.1F2, F10
15attention deficit hyperactivity disorder10.0
16arthropathy10.0
17myopathy10.0
18polymicrogyria10.0
19bernard-soulier syndrome type c10.0
20short stature10.0
21vesiculitis10.0
22endotheliitis10.0
23unilateral focal polymicrogyria10.0
24quebec platelet disorder10.0F10, F5
25dysfibrinogenemia10.0F5, F2
26stroke, ischemic10.0F2, F5
27prothrombin deficiency10.0F5, F2
28factor v deficiency10.0F5, F2
29blood protein disease10.0F2, F5
30portal vein thrombosis10.0F2, F5
31thrombocytosis10.0F10, F2
32factor xi deficiency10.0F5, F2
33protein s deficiency10.0F2, F5
34placental abruption10.0F2, F5
35von willebrand's disease10.0F2, F5
36protein c deficiency10.0F5, F2
37factor x deficiency10.0F5, F10, F2
38antithrombin iii deficiency10.0F2, F10, F5
39hemorrhagic disease10.0F2, F10, F5
40factor vii deficiency10.0F5, F10, F2
41afibrinogenemia10.0F2, F10, F5
42pregnancy loss10.0F5, F10, F2
43galactosemia10.0F2, F5
44pulmonary embolism10.0F5, TNXA, F10, F2
45antiphospholipid syndrome10.0F5, TNXA, F10, F2
46thrombophilia10.0F2, F10, TNXA, F5
47thromboembolism10.0F2, F10, TNXA, F5
48disseminated intravascular coagulation10.0F2, F10, TNXA, F5
49venous thrombosis10.0F2, F10, TNXA, F5
50pre-eclampsia10.0F5, F10, F2

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



Diseases related to scott syndrome

Symptoms for Scott Syndrome

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47OMIM
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Symptoms by clinical synopsis from OMIM:

262890

Clinical features from OMIM:

262890

Drugs & Therapeutics for Scott Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Scott Syndrome

Search NIH Clinical Center for Scott Syndrome

Genetic Tests for Scott Syndrome

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Anatomical Context for Scott Syndrome

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33MalaCards
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MalaCards organs/tissues related to Scott Syndrome:

33
B lymphoblasts, Testes, Endothelial

Animal Models for Scott Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Scott Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.4CDC42, ANO6, PTPN3, ABCA1, F2
2MP:00053767.2CDC42, F2, ABCA1, F10, ANO6, PLSCR1

Publications for Scott Syndrome

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Sources:
52PubMed
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Articles related to Scott Syndrome:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. (23169394)
2013
2
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. (23211637)
2013
3
A novel mutation in a mother and a son with Aarskog-Scott syndrome. (23443263)
2013
4
Aarskog-Scott syndrome. (23673187)
2013
5
Diagnosis of Scott syndrome in patient with bleeding disorder of unknown cause. (22027759)
2012
6
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). (23061683)
2012
7
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. (22211847)
2012
8
Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome. (21958383)
2011
9
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. (21911474)
2011
10
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). (21654724)
2011
11
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. (21511967)
2011
12
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. (21739585)
2011
13
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. (20082460)
2010
14
Laboratory monitoring of Scott Syndrome. (19814742)
2010
15
Evaluation of platelet function screening tests to detect platelet procoagulant deficiency in dogs with Scott syndrome. (19351331)
2009
16
Absence of platelet-dependent fibrin formation in a patient with Scott syndrome. (19572071)
2009
17
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. (19110080)
2009
18
Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. (18844827)
2008
19
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. (17152066)
2007
20
Cerebrovascular disease associated with Aarskog-Scott syndrome. (17294235)
2007
21
Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. (17723137)
2007
22
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
23
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. (16688726)
2006
24
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. (16953916)
2006
25
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). (15809997)
2005
26
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. (15790791)
2005
27
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
28
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
29
Characterisation of lymphocyte responses to Ca2+ in Scott syndrome. (14961172)
2004
30
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). (10930571)
2000
31
Assessment of the expression of candidate human plasma membrane phospholipid scramblase in Scott syndrome cells. (10064019)
1999
32
Expression of proteins controlling transbilayer movement of plasma membrane phospholipids in the B lymphocytes from a patient with Scott syndrome. (9716599)
1998
33
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
34
Impaired redistribution of aminophospholipids with distinctive cell shape change during Ca2+-induced activation of platelets from a patient with Scott syndrome. (9576181)
1998
35
Platelet prothrombinase activity and intracellular calcium responses in patients with storage pool deficiency, glycoprotein IIb-IIIa deficiency, or impaired platelet coagulant activity--a comparison with Scott syndrome. (9057642)
1997
36
Scott syndrome: an inherited defect of the procoagulant activity of platelets. (20297932)
1997
37
Scott syndrome erythrocytes contain a membrane protein capable of mediating Ca2+-dependent transbilayer migration of membrane phospholipids. (9151796)
1997
38
Scott syndrome: an inherited defect of the procoagulant activity of platelets. (16793639)
1997
39
Family studies in Scott syndrome. (9207489)
1997
40
Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder. (8608230)
1996
41
The complex of phosphatidylinositol 4,5-bisphosphate and calcium ions is not responsible for Ca2+-induced loss of phospholipid asymmetry in the human erythrocyte: a study in Scott syndrome, a disorder of calcium-induced phospholipid scrambling. (7655025)
1995
42
Studies on the haemostatic defect in a complicated syndrome. An inverse Scott syndrome platelet membrane abnormality? (8607103)
1995
43
Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome. (7810566)
1994
44
Production and characterization of transformed B-lymphocytes expressing the membrane defect of Scott syndrome. (7989579)
1994
45
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. (7954831)
1994
46
Scott syndrome: a disorder of platelet coagulant activity. (7831576)
1994
47
Platelet receptor-mediated factor X activation by factor IXa. High-affinity factor IXa receptors induced by factor VIII are deficient on platelets in Scott syndrome. (2547839)
1989
48
Assembly of the platelet prothrombinase complex is linked to vesiculation of the platelet plasma membrane. Studies in Scott syndrome: an isolated defect in platelet procoagulant activity. (2793843)
1989
49
The Aarskog-Scott syndrome in four brothers. (1227529)
1975
50
Aarskog-Scott syndrome of unusual facies, joint hypermobility, genital anomaly and short stature. (1227568)
1975

Variations for Scott Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Scott Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1ANO6ANO6, IVS12AS, G-T, -1single nucleotide variantPathogenic/card/scott_syndrome

Expression for genes affiliated with Scott Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Scott Syndrome

Search GEO for disease gene expression data for Scott Syndrome.

Pathways for genes affiliated with Scott Syndrome

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Sources:
50PathCards, 55Reactome, 51PharmGKB, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN, 30KEGG, 54R&D Systems
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Pathways related to Scott Syndrome according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8F10, F2
29.6FGD1, CDC42, MCF2
39.6MCF2, CDC42, FGD1
4
Show member pathways
9.4F5, F10, F2
5
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
9.4F2, F10, F5
6
Show member pathways
9.4F2, F10, F5
7
Show member pathways
9.3FGD3, FGD1, CDC42, MCF2
8
Show member pathways
9.3MCF2, CDC42, FGD1, FGD3
9
Show member pathways
9.3FGD3, FGD1, CDC42, MCF2
109.3MCF2, PLSCR1, CDC42
11
Show member pathways
9.2FGD3, FGD1, CDC42, F2
12
Show member pathways
8.5F2, F10, PLEK, F5, CDC42

Compounds for genes affiliated with Scott Syndrome

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45Novoseek, 11DrugBank, 3BitterDB, 51PharmGKB, 24HMDB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Scott Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 94)
idCompoundScoreTop Affiliating Genes
1bothrojaracin4510.2F2, F10
2dx 9065a4510.1F2, F10
3ac-ap4510.1F2, F10
4dioleoyl phosphatidylserine4510.0F2, F10
5antistasin4510.0F2, F10
6ecotin459.9F10, F5
7inogatran459.9F2, F5
8ecarin459.8F5, F10, F2
9spectrozyme459.8F5, F10, F2
10kaolin459.8F2, F10, F5
11ximelagatran45 1110.8F2, F10, F5
12ancrod459.8F2, F10, F5
13heparinoids459.8F5, F10, F2
14coumarins459.8F2, F10, F5
15protamine sulfate459.8F5, F10, F2
16hirugen459.8F2, F5
17nadroparin45 1110.7TNXA, F10
18coumarin45 3 51 2412.7F5, F10, F2
19cardiolipin45 1110.7F2, F10, F5
20clopidogrel45 51 24 1112.7TNXA, F10, F2
21rfviii459.5F5, F10
22simvastatin45 51 61 29 24 1114.4F5, F10, ABCA1, F2
23danaparoid459.4F5, TNXA, F10, F2
24fondaparinux459.4F2, F10, TNXA, F5
25bivalirudin45 1110.4F2, F10, TNXA, F5
26argatroban45 1110.4F5, TNXA, F10, F2
27gamma-carboxyglutamic acid459.4F2, F10, TNXA, F5
28hirudin459.4F2, F10, TNXA, F5
29protamine459.4F2, F10, TNXA, F5
30dermatan sulfate459.3F2, F10, TNXA, F5
31convulxin459.3F10, PTPN3, F5
32warfarin45 51 24 1112.3F5, F10, F2
33menadione45 24 1111.0F2, PTPN3, F10
34Guanosine triphosphate248.9FGD3, FGD1, FGD5, CDC42, MCF2
35phosphatidylcholine458.7F2, ABCA1, F10, TNXA, F5, CDC42
36aspirin45 51 29 2411.5F2, ABCA1, F10, TNXA, PLEK, F5
37fibrinogen458.5F2, ABCA1, F10, TNXA, PLEK, F5
38arginine458.5F10, TNXA, MCF2, PLEK, F5, CDC42
39heparin45 29 24 1111.4F5, PTPN3, TNXA, F10, F2
40aspartate458.4F2, F10, PTPN3, PLEK, F5
41estrogen458.3F2, F10, PTPN3, MCF2, F5, CDC42
42glutamate458.1ABCA1, F10, PTPN3, PLEK, F5, CDC42
43threonine458.1ABCA1, PTPN3, MCF2, PLEK, F5, CDC42
44cysteine458.0F10, PTPN3, MCF2, PLEK, F5, CDC42
45phospholipid458.0F2, ABCA1, F10, TNXA, PLSCR1, PLEK
46phosphatidylserine45 29 119.7CDC42, F2, ABCA1, F10, TNXA, PLSCR1
47alanine457.7F2, F10, TNXA, PTPN3, PLEK, F5
48lipid457.6ABCA1, TNXA, PTPN3, MCF2, PLSCR1, PLEK
49serine457.1F2, ABCA1, F10, TNXA, PTPN3, MCF2
50calcium45 51 24 119.7ABCA1, F10, TNXA, PTPN3, MCF2, ANO6

GO Terms for genes affiliated with Scott Syndrome

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16Gene Ontology
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Cellular components related to Scott Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ruffleGO:0017269.3FGD3, FGD1, FGD5
2lamellipodiumGO:0300279.2FGD5, FGD1, FGD3
3Golgi apparatusGO:0057948.6ABCA1, PLSCR1, FGD5, FGD1, FGD3
4cytoskeletonGO:0058568.3FGD3, FGD1, FGD5, MCF2, PTPN3
5cytosolGO:0058298.3FGD3, FGD1, CDC42, PLEK, PLSCR1, MCF2
6plasma membraneGO:0058867.7F2, ABCA1, F10, ANO6, PLSCR1, F5

Biological processes related to Scott Syndrome according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-glutamic acid carboxylationGO:0171879.9F10, F2
2phospholipid scramblingGO:0171219.9PLSCR1, ANO6
3blood coagulation, intrinsic pathwayGO:0075979.8F10, F2
4apoptotic signaling pathwayGO:0971909.7MCF2, FGD1, FGD3
5positive regulation of apoptotic processGO:0430659.7FGD3, FGD1, MCF2
6regulation of Cdc42 GTPase activityGO:0430889.6FGD3, FGD1, FGD5
7regulation of small GTPase mediated signal transductionGO:0510569.6FGD3, FGD1, CDC42, MCF2
8small GTPase mediated signal transductionGO:0072649.5MCF2, CDC42, FGD1, FGD3
9cytoskeleton organizationGO:0070109.5FGD3, FGD1, FGD5
10acute-phase responseGO:0069539.5PLSCR1, F2
11neurotrophin TRK receptor signaling pathwayGO:0480119.4MCF2, FGD1, FGD3
12filopodium assemblyGO:0468479.3FGD3, FGD1, FGD5, CDC42
13regulation of cell shapeGO:0083609.2F2, FGD5, FGD1, FGD3
14actin cytoskeleton organizationGO:0300369.2CDC42, FGD5, FGD1, FGD3
15platelet activationGO:0301688.9F2, PLSCR1, PLEK, F5
16blood coagulationGO:0075968.6F2, F10, ANO6, PLEK, F5, CDC42

Molecular functions related to Scott Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.4F5, F10, F2
2small GTPase bindingGO:0312679.1FGD3, FGD1, FGD5, ABCA1
3guanyl-nucleotide exchange factor activityGO:0050859.0FGD5, FGD1, FGD3
4Rho guanyl-nucleotide exchange factor activityGO:0050899.0MCF2, FGD5, FGD1, FGD3
5protein bindingGO:0055155.9F2, ABCA1, F10, PTPN3, MCF2, PLSCR1

Products for genes affiliated with Scott Syndrome

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Sources for Scott Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet