MCID: SCT005
MIFTS: 45

Scott Syndrome malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Scott Syndrome

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Scott Syndrome:

Name: Scott Syndrome 46 9 42 44 48 61
 
Platelet Factor X Receptor Deficiency 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
scott syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages


External Ids:

OMIM46 262890
Orphanet48 806
ICD10 via Orphanet26 D69.8
UMLS via Orphanet62 C0796149

Summaries for Scott Syndrome

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OMIM:46 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 platelet factor x receptor deficiency, is related to aarskog-scott syndrome and factor xiii deficiency, and has symptoms including autosomal recessive inheritance, abnormal bleeding and factor x activation deficiency. 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, whole blood and testes, and related mouse phenotypes are skeleton and homeostasis/metabolism.

Wikipedia:64 Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism... more...

Related Diseases for Scott Syndrome

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Diseases related to Scott Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1aarskog-scott syndrome31.0MCF2, PLEK, CDC42, FGD5, FGD3, FGD1
2factor xiii deficiency10.3F5
3homocysteinemia10.3F5
4factor xii deficiency10.3F5
5factor viii deficiency10.3F5
6epiphyseal dysplasia hearing loss dysmorphism10.3
7fibular aplasia, tibial campomelia, and oligosyndactyly syndrome10.3
8pelvic dysplasia arthrogryposis of lower limbs10.3
9central retinal vein occlusion10.3F5
10glanzmann thrombasthenia10.3TNXA, F10
11hemophilia b10.3F2, F10
12quebec platelet disorder10.2F5, F10
13dysfibrinogenemia10.1F5, F2
14hypoprothrombinemia10.1F5, F2
15factor v deficiency10.1F2, F5
16blood protein disease10.1F5, F2
17portal vein thrombosis10.1F2, F5
18atrial fibrillation10.1F2, F10
19thrombocytosis10.1F2, F10
20factor xi deficiency, autosomal recessive10.1F5, F2
21protein s deficiency10.1F2, F5
22attention deficit-hyperactivity disorder10.1
23bernard-soulier syndrome, type c10.1
24arthropathy10.1
25cerebrovascular disease10.1
26myopathy10.1
27polymicrogyria10.1
28vesiculitis10.1
29endotheliitis10.1
30unilateral focal polymicrogyria10.1
31von willebrand's disease10.1F2, F5
32placental abruption10.1F2, F5
33protein c deficiency10.0F2, F5
34factor x deficiency10.0F10, F2, F5
35pregnancy loss, recurrent 110.0F2, F5
36thrombophilia due to antithrombin iii deficiency10.0F10, F2, F5
37hemorrhagic disease10.0F5, F2, F10
38factor vii deficiency10.0F5, F10, F2
39afibrinogenemia10.0F2, F5, F10
40hemophilia a10.0F10, F2, F5
41thrombophilia due to activated protein c resistance10.0F5, F2, F10
42galactosemia9.9F5, F2
43pulmonary embolism9.9F10, F5, TNXA, F2
44antiphospholipid syndrome9.9F5, F2, F10, TNXA
45thrombophilia9.9F5, TNXA, F10, F2
46disseminated intravascular coagulation9.9F2, F5, F10, TNXA
47thrombophilia due to thrombin defect9.9F10, F5, F2, TNXA
48preeclampsia/eclampsia 19.9F5, F2, F10
49factor v leiden thrombophilia9.9TNXA, F5, F2, F10
50stroke, ischemic9.8F5, F10, F2, ABCA1

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



Diseases related to scott syndrome

Symptoms for Scott Syndrome

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Symptoms by clinical synopsis from OMIM:

262890

Clinical features from OMIM:

262890

HPO human phenotypes related to Scott Syndrome:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormal bleeding HP:0001892
3 factor x activation deficiency HP:0008354

Drugs & Therapeutics for Scott Syndrome

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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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MalaCards organs/tissues related to Scott Syndrome:

31
B lymphoblasts, Whole blood, Testes, Endothelial

Animal Models for Scott Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Scott Syndrome:

35
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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Articles related to Scott Syndrome:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
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
2
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). (25227149)
2014
3
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. (24770546)
2014
4
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. (23169394)
2013
5
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. (23211637)
2013
6
A novel mutation in a mother and a son with Aarskog-Scott syndrome. (23443263)
2013
7
Aarskog-scott syndrome: a review and case report. (25206170)
2012
8
Diagnosis of Scott syndrome in patient with bleeding disorder of unknown cause. (22027759)
2012
9
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). (23061683)
2012
10
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. (22211847)
2012
11
Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome. (21958383)
2011
12
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. (21911474)
2011
13
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). (21654724)
2011
14
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. (21511967)
2011
15
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. (21739585)
2011
16
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. (20082460)
2010
17
Laboratory monitoring of Scott Syndrome. (19814742)
2010
18
Absence of platelet-dependent fibrin formation in a patient with Scott syndrome. (19572071)
2009
19
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. (19110080)
2009
20
Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. (18844827)
2008
21
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. (17152066)
2007
22
Cerebrovascular disease associated with Aarskog-Scott syndrome. (17294235)
2007
23
Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. (17723137)
2007
24
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
25
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. (16688726)
2006
26
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. (16953916)
2006
27
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). (15809997)
2005
28
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. (15790791)
2005
29
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
30
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
31
Characterisation of lymphocyte responses to Ca2+ in Scott syndrome. (14961172)
2004
32
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). (10930571)
2000
33
Assessment of the expression of candidate human plasma membrane phospholipid scramblase in Scott syndrome cells. (10064019)
1999
34
Expression of proteins controlling transbilayer movement of plasma membrane phospholipids in the B lymphocytes from a patient with Scott syndrome. (9716599)
1998
35
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
36
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
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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Clinvar genetic disease variations for Scott Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ANO6ANO6, IVS12AS, G-T, -1single nucleotide variantPathogenic

Expression for genes affiliated with Scott Syndrome

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Search GEO for disease gene expression data for Scott Syndrome.

Pathways for genes affiliated with Scott Syndrome

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

(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 Pathway36
Complement and Coagulation Cascades36
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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Compounds related to Scott Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 94)
idCompoundScoreTop Affiliating Genes
1bothrojaracin4410.2F2, F10
2dx 9065a4410.1F2, F10
3ac-ap4410.1F2, F10
4dioleoyl phosphatidylserine4410.0F10, F2
5antistasin4410.0F2, F10
6inogatran449.9F2, F5
7ecarin449.8F10, F2, F5
8spectrozyme449.8F5, F2, F10
9kaolin449.8F2, F10, F5
10ancrod449.8F2, F5, F10
11ximelagatran44 1110.8F5, F10, F2
12heparinoids449.8F2, F10, F5
13coumarins449.8F5, F10, F2
14protamine sulfate449.8F5, F2, F10
15ecotin449.8F10, F5
16nadroparin44 1110.7F10, TNXA
17coumarin44 1 50 2412.7F5, F10, F2
18cardiolipin44 1110.7F2, F5, F10
19clopidogrel44 50 24 1112.7TNXA, F10, F2
20hirugen449.6F5, F2
21rfviii449.5F10, F5
22warfarin44 50 24 1112.5F10, F5, F2
23simvastatin44 50 60 28 24 1114.4F5, F10, ABCA1, F2
24danaparoid449.4F5, F10, TNXA, F2
25fondaparinux449.4TNXA, F5, F2, F10
26bivalirudin44 1110.4TNXA, F5, F10, F2
27argatroban44 1110.4F5, F2, F10, TNXA
28gamma-carboxyglutamic acid449.4TNXA, F5, F10, F2
29hirudin449.4F5, TNXA, F10, F2
30protamine449.4F5, TNXA, F2, F10
31dermatan sulfate449.3F2, F10, TNXA, F5
32convulxin449.3PTPN3, F10, F5
33menadione44 24 1111.1PTPN3, F10, F2
34Guanosine triphosphate248.9CDC42, FGD3, FGD5, MCF2, FGD1
35phosphatidylcholine448.7F5, TNXA, F10, CDC42, ABCA1, F2
36aspirin44 50 28 2411.5F5, TNXA, ABCA1, F2, F10, PLEK
37fibrinogen448.5F5, ABCA1, F10, TNXA, PLEK, F2
38arginine448.5F10, PLEK, F5, CDC42, MCF2, TNXA
39heparin44 28 24 1111.4F5, TNXA, F10, PTPN3, F2
40aspartate448.4F10, PLEK, PTPN3, F2, F5
41estrogen448.3CDC42, F10, PTPN3, MCF2, F5, F2
42glutamate448.1F5, PLEK, PTPN3, F10, CDC42, ABCA1
43threonine448.1MCF2, PTPN3, PLEK, ABCA1, CDC42, F5
44cysteine448.0F10, PLEK, MCF2, F5, PTPN3, CDC42
45phospholipid448.0TNXA, F10, F5, ABCA1, F2, PLEK
46phosphatidylserine44 28 119.7PLEK, F10, CDC42, PLSCR1, F2, ABCA1
47alanine447.7TNXA, CDC42, F5, F2, F10, PLEK
48lipid447.6PLSCR1, CDC42, MCF2, TNXA, PTPN3, ABCA1
49serine447.1ABCA1, F2, F10, TNXA, PTPN3, PLEK
50calcium44 50 24 119.7CDC42, PTPN3, TNXA, F10, ABCA1, MCF2

GO Terms for genes affiliated with Scott Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1ruffleGO:00017269.3FGD3, FGD1, FGD5
2lamellipodiumGO:00300279.2FGD5, FGD1, FGD3
3Golgi apparatusGO:00057948.6ABCA1, PLSCR1, FGD5, FGD1, FGD3
4cytoskeletonGO:00058568.3FGD3, FGD1, FGD5, MCF2, PTPN3
5cytosolGO:00058298.3FGD3, FGD1, CDC42, PLEK, PLSCR1, MCF2
6plasma membraneGO:00058867.7F2, ABCA1, F10, ANO6, PLSCR1, F5

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-glutamic acid carboxylationGO:00171879.9F10, F2
2phospholipid scramblingGO:00171219.9PLSCR1, ANO6
3blood coagulation, intrinsic pathwayGO:00075979.8F10, F2
4apoptotic signaling pathwayGO:00971909.7MCF2, FGD1, FGD3
5positive regulation of apoptotic processGO:00430659.7FGD3, FGD1, MCF2
6regulation of Cdc42 GTPase activityGO:00430889.6FGD3, FGD1, FGD5
7regulation of small GTPase mediated signal transductionGO:00510569.6FGD3, FGD1, CDC42, MCF2
8small GTPase mediated signal transductionGO:00072649.5MCF2, CDC42, FGD1, FGD3
9cytoskeleton organizationGO:00070109.5FGD3, FGD1, FGD5
10acute-phase responseGO:00069539.5PLSCR1, F2
11neurotrophin TRK receptor signaling pathwayGO:00480119.4MCF2, FGD1, FGD3
12filopodium assemblyGO:00468479.3FGD3, FGD1, FGD5, CDC42
13regulation of cell shapeGO:00083609.2F2, FGD5, FGD1, FGD3
14actin cytoskeleton organizationGO:00300369.2CDC42, FGD5, FGD1, FGD3
15platelet activationGO:00301688.9F2, PLSCR1, PLEK, F5
16blood coagulationGO:00075968.6F2, F10, ANO6, PLEK, F5, CDC42

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.4F5, F10, F2
2small GTPase bindingGO:00312679.1FGD3, FGD1, FGD5, ABCA1
3guanyl-nucleotide exchange factor activityGO:00050859.0FGD5, FGD1, FGD3
4Rho guanyl-nucleotide exchange factor activityGO:00050899.0MCF2, FGD5, FGD1, FGD3
5protein bindingGO:00055155.9F2, ABCA1, F10, PTPN3, MCF2, PLSCR1

Sources for Scott Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet