MCID: SCT005
MIFTS: 50

Scott Syndrome malady

Rare diseases, Blood diseases categories
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Summaries for Scott Syndrome

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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 based summary: Scott Syndrome, also known as platelet factor x receptor deficiency, is related to aarskog-scott syndrome and cerebrovascular disease, and has symptoms including 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:46 262890

Aliases & Classifications for Scott Syndrome

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Sources:
42NIH Rare Diseases, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Scott Syndrome, Aliases & Descriptions:

Name: Scott Syndrome 42 46 44 48 62
 
Platelet Factor X Receptor Deficiency 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
scott syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


External Ids:

OMIM46 262890
ICD10 via Orphanet26 D69.8
UMLS via Orphanet63 C0796149

Related Diseases for Scott Syndrome

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1aarskog-scott syndrome31.0MCF2, PLEK, CDC42, FGD5, FGD3, FGD1
2cerebrovascular disease29.8F5, F10, F2, ABCA1
3homocysteinemia10.3F5
4factor xii deficiency10.3F5
5factor viii deficiency10.3F5
6central retinal vein occlusion10.3F5
7glanzmann's thrombasthenia10.3TNXA, F10
8hemophilia b10.3F2, F10
9inherited hypoprothrombinemia10.3F2, F10
10epiphyseal dysplasia hearing loss dysmorphism10.2
11fibular aplasia, tibial campomelia, and oligosyndactyly syndrome10.2
12pelvic dysplasia arthrogryposis of lower limbs10.2
13limb transversal defect - cardiac anomaly10.2
14quebec platelet disorder10.2F5, F10
15dysfibrinogenemia10.1F5, F2
16stroke, ischemic10.1F5, F2
17prothrombin deficiency10.1F5, F2
18factor v deficiency10.1F2, F5
19blood protein disease10.1F5, F2
20thrombocytosis10.1F2, F10
21portal vein thrombosis10.1F2, F5
22factor xi deficiency10.1F5, F2
23protein s deficiency10.1F2, F5
24von willebrand's disease10.1F2, F5
25attention deficit hyperactivity disorder10.1
26arthropathy10.1
27myopathy10.1
28polymicrogyria10.1
29bernard-soulier syndrome type c10.1
30short stature10.1
31vesiculitis10.1
32endotheliitis10.1
33unilateral focal polymicrogyria10.1
34placental abruption10.1F2, F5
35protein c deficiency10.0F2, F5
36factor x deficiency10.0F10, F2, F5
37antithrombin iii deficiency10.0F10, F2, F5
38hemorrhagic disease10.0F5, F2, F10
39factor vii deficiency10.0F5, F10, F2
40afibrinogenemia10.0F2, F5, F10
41pregnancy loss10.0F5, 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
47thromboembolism9.9TNXA, F2, F10, F5
48venous thrombosis9.9F10, F5, F2, TNXA
49pre-eclampsia9.9F5, F2, F10
50factor v leiden thrombophilia9.9TNXA, F5, F2, F10

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:

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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:

32
B lymphoblasts, Testes, Endothelial

Animal Models for Scott Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Scott Syndrome:

36
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 60)
idTitleAuthorsYear
1
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia). (25227149)
2014
2
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. (24770546)
2014
3
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. (23169394)
2013
4
Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy. (23211637)
2013
5
A novel mutation in a mother and a son with Aarskog-Scott syndrome. (23443263)
2013
6
Aarskog-Scott syndrome. (23673187)
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
Evaluation of platelet function screening tests to detect platelet procoagulant deficiency in dogs with Scott syndrome. (19351331)
2009
19
Absence of platelet-dependent fibrin formation in a patient with Scott syndrome. (19572071)
2009
20
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. (19110080)
2009
21
Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. (18844827)
2008
22
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. (17152066)
2007
23
Cerebrovascular disease associated with Aarskog-Scott syndrome. (17294235)
2007
24
Scott syndrome dogs have impaired coated-platelet formation and calcein-release but normal mitochondrial depolarization. (17723137)
2007
25
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
26
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. (16688726)
2006
27
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. (16953916)
2006
28
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). (15809997)
2005
29
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. (15790791)
2005
30
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
31
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
32
Characterisation of lymphocyte responses to Ca2+ in Scott syndrome. (14961172)
2004
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: an inherited defect of the procoagulant activity of platelets. (20297932)
1997
38
Scott syndrome erythrocytes contain a membrane protein capable of mediating Ca2+-dependent transbilayer migration of membrane phospholipids. (9151796)
1997
39
Scott syndrome: an inherited defect of the procoagulant activity of platelets. (16793639)
1997
40
Family studies in Scott syndrome. (9207489)
1997
41
Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder. (8608230)
1996
42
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
43
Studies on the haemostatic defect in a complicated syndrome. An inverse Scott syndrome platelet membrane abnormality? (8607103)
1995
44
Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome. (7810566)
1994
45
Production and characterization of transformed B-lymphocytes expressing the membrane defect of Scott syndrome. (7989579)
1994
46
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. (7954831)
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1ANO6ANO6, IVS12AS, G-T, -1single nucleotide variantPathogenic

Expression for genes affiliated with Scott Syndrome

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Expression patterns in normal tissues for genes affiliated with Scott Syndrome

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Pathways for genes affiliated with Scott Syndrome

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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 Pathway37
Complement and Coagulation Cascades37
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/GeneDecks:

(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 2 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 61 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/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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet