MCID: SCT005
MIFTS: 42

Scott Syndrome malady

Blood category

Summaries for Scott Syndrome

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 prothrombin deficiency. An important gene associated with Scott Syndrome is ANO6 (anoctamin 6), and among its related pathways are Gamma-carboxylation, transport, and amino-terminal cleavage of proteins and Complement and coagulation cascades. The compounds coumarins and (2R)-2-(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}PROPENE-1-SULFONAMIDE have been mentioned in the context of this disorder. Affiliated tissues include b lymphoblasts, b cells and endothelial.

Description from OMIM:47 262890

Aliases & Classifications for Scott Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


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 61
platelet factor x receptor deficiency 43


External Ids:

OMIM47 262890
ICD10 via Orphanet26 D69.8
SNOMED-CT via Orphanet58 128098009
UMLS via Orphanet62 C0796149

Related Diseases for Scott Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1aarskog-scott syndrome31.2CDC42, MCF2, FGD3, FGD1, FGD5, PLEK
2prothrombin deficiency30.0F2, F5
3fg syndrome10.5
4char syndrome10.4
5scot deficiency10.3
6n syndrome10.3
7micro syndrome10.2
8epiphyseal dysplasia hearing loss dysmorphism10.2
9fibular aplasia, tibial campomelia, and oligosyndactyly syndrome10.2
10pelvic dysplasia arthrogryposis of lower limbs10.2
11limb transversal defect - cardiac anomaly10.2
12attention deficit hyperactivity disorder10.0
13platelet storage pool deficiency10.0
14hypermobility syndrome10.0
15arthropathy10.0
16polymicrogyria10.0
17short syndrome10.0
18german syndrome10.0
19bernard-soulier syndrome type c10.0
20short stature10.0
21unilateral polymicrogyria10.0
22unilateral focal polymicrogyria10.0
23lateral sclerosis10.0PLEK
24hemarthrosis10.0F10
25ischemia10.0F10
26factor viii deficiency10.0F5
27purpura fulminans10.0F5
28inherited hypoprothrombinemia10.0F10, F2
29homocysteinemia10.0F5
30thrombocytosis10.0F2, F10
31central retinal vein occlusion10.0F5
32quebec platelet disorder10.0F5, F10
33factor xii deficiency10.0F5
34patent foramen ovale10.0F5
35dysfibrinogenemia10.0F5, F2
36stroke, ischemic10.0F5, F2
37factor v deficiency10.0F5, F2
38blood protein disease10.0F5, F2
39factor x deficiency10.0F2, F10, F5
40antithrombin iii deficiency10.0F5, F10, F2
41hemorrhagic disease10.0F5, F10, F2
42factor vii deficiency10.0F5, F10, F2
43afibrinogenemia10.0F5, F10, F2
44factor xi deficiency10.0F5, F2
45pregnancy loss10.0F2, F10, F5
46leukemia10.0F10, CDC42, MCF2, PLEK
47antiphospholipid syndrome10.0TNXA, F5, F10, F2
48venous thrombosis10.0TNXA, F5, F10, F2
49pulmonary embolism10.0F2, F10, F5, TNXA
50diabetes mellitus10.0PTPN3, ABCA1, F10

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



Diseases related to scott syndrome

Clinical Features for Scott Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

262890

Clinical synopsis from OMIM:

262890

Drugs & Therapeutics for Scott Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Scott Syndrome

Drug clinical trials:

Search ClinicalTrials for Scott Syndrome

Search NIH Clinical Center for Scott Syndrome

Search CenterWatch for Scott Syndrome

Genetic Tests for Scott Syndrome

Anatomical Context for Scott Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Scott Syndrome:

33
B lymphoblasts, B cells, Endothelial

Animal Models for Scott Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Scott Syndrome

Sources:
51PubMed
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Articles related to Scott Syndrome:

(show top 50)    (show all 61)
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
Aarskog-Scott syndrome. (23673187)
2013
4
Diagnosis of Scott syndrome in patient with bleeding disorder of unknown cause. (22027759)
2012
5
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). (23061683)
2012
6
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. (22211847)
2012
7
Mania with Aarskog-Scott syndrome. (22565081)
2012
8
The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor I^-stimulated aortic endothelial cells. (21911474)
2011
9
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). (21654724)
2011
10
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. (21511967)
2011
11
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. (21739585)
2011
12
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. (20082460)
2010
13
Laboratory monitoring of Scott Syndrome. (19814742)
2010
14
A genome-wide linkage scan in German shepherd dogs localizes canine platelet procoagulant deficiency (Scott syndrome) to canine chromosome 27. (19854246)
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
Hutchinson-Gilford Progeria syndrome: its presentation in F. Scott Fitzgerald's short story 'The Curious Case of Benjamin Button' and its oral manifestations. (19783794)
2009
18
Exclusion of ABCA-1 as a candidate gene for canine Scott syndrome. (18844827)
2008
19
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. (17506099)
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
Female counterpart of shawl scrotum in Aarskog-Scott syndrome. (16953916)
2006
24
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). (15809997)
2005
25
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. (15790791)
2005
26
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
27
Characterisation of lymphocyte responses to Ca2+ in Scott syndrome. (14961172)
2004
28
Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids. (15164759)
2004
29
Subproteomics analysis of phosphorylated proteins: application to the study of B-lymphoblasts from a patient with Scott syndrome. (12124928)
2002
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
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
35
Scott syndrome: an inherited defect of the procoagulant activity of platelets. (20297932)
1997
36
Scott syndrome erythrocytes contain a membrane protein capable of mediating Ca2+-dependent transbilayer migration of membrane phospholipids. (9151796)
1997
37
Scott syndrome: an inherited defect of the procoagulant activity of platelets. (16793639)
1997
38
Family studies in Scott syndrome. (9207489)
1997
39
Aminophospholipid exposure, microvesiculation and abnormal protein tyrosine phosphorylation in the platelets of a patient with Scott syndrome: a study using physiologic agonists and local anaesthetics. (9432050)
1997
40
Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder. (8608230)
1996
41
Sperm acrosome defects in a patient with Aarskog-Scott syndrome. (8985497)
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
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
Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS). (8127075)
1993
47
Defective Ca(2+)-induced microvesiculation and deficient expression of procoagulant activity in erythrocytes from a patient with a bleeding disorder: a study of the red blood cells of Scott syndrome. (1730083)
1992
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

Genetic Variations for Scott Syndrome

Expression for genes affiliated with Scott Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 50PharmGKB, 30KEGG, 38NCBI BioSystems Database, 52QIAGEN, 53R&D Systems, 12EMD Millipore
See all sources

Pathways related to Scott Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0F2, F10
2
Hide members
9.7F2, F5, F10
3
Hide members
9.7F10, F2, F5
4
Hide members
9.7F5, F10, F2
59.2FARP2, MCF2, FGD1, CDC42
69.2CDC42, MCF2, FGD1, FGD4
7
Hide members
9.1F2, FGD1, CDC42, FGD3
8
Hide members
8.6FGD4, FGD3, CDC42, MCF2, FGD1, FGD2
9
Hide members
8.6FGD2, FGD4, FGD1, FGD3, MCF2, CDC42
10
Hide members
8.6FGD2, FGD4, FGD1, FGD3, MCF2, CDC42

Compounds for genes affiliated with Scott Syndrome

Sources:
45Novoseek, 11DrugBank, 2BitterDB, 50PharmGKB, 24HMDB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Scott Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
1coumarins4510.6F10
2(2R)-2-(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}PROPENE-1-SULFONAMIDE1110.3F2, F10
3bothrojaracin4510.3F2, F10
4dx 9065a4510.3F2, F10
52-(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}ETHANESULFONAMIDE1110.3F2, F10
62-(5-CHLORO-2-THIENYL)-N-{(3S)-1-[(1S)-1-METHYL-2-MORPHOLIN-4-YL-2-OXOETHYL]-2-OXOPYRROLIDIN-3-YL}ETHENESULFONAMIDE1110.3F10, F2
7ac-ap4510.3F2, F10
8Gamma-Carboxy-Glutamic Acid1110.3F2, F10
9dioleoyl phosphatidylserine4510.3F10, F2
10inogatran4510.1F5, F2
11ecotin4510.1F10, F5
12antistasin4510.1F2, F10
13ecarin4510.1F2, F5, F10
14spectrozyme4510.1F5, F2, F10
15kaolin4510.1F2, F10, F5
16ancrod4510.1F5, F10, F2
17hirugen4510.1F2, F5
18ximelagatran45 1111.1F5, F10, F2
19heparinoids4510.1F5, F2, F10
20protamine sulfate4510.1F5, F10, F2
21nadroparin45 1111.0TNXA, F10
22coumarin45 2 50 2413.0F10, F5, F2
23cardiolipin45 1111.0F5, F10, F2
24rfviii4510.0F5, F10
25clopidogrel50 45 11 2413.0F10, TNXA, F2
26batroxobin459.9F5, F2
27convulxin459.8F10, PTPN3, F5
28danaparoid459.8F2, F10, F5, TNXA
29fondaparinux459.8F10, F5, F2, TNXA
30bivalirudin45 1110.8F10, F2, F5, TNXA
31argatroban45 1110.8F10, F2, F5, TNXA
32gamma-carboxyglutamic acid459.8F10, F5, F2, TNXA
33hirudin459.8TNXA, F5, F10, F2
34protamine459.8TNXA, F10, F2, F5
35dermatan sulfate459.7F5, F2, F10, TNXA
36dabigatran etexilate45 1110.7F10, F2
37simvastatin45 50 60 29 11 2414.4F2, CTTN, F5, F10, ABCA1
38gdp459.2FGD4, PLEK, MCF2, CDC42
39aspirin45 50 29 2412.1F10, ABCA1, PLEK, TNXA, F5, F2
40phosphatidylcholine458.9ABCA1, F2, F10, F5, TNXA, CDC42
41gtp45 299.7CTTN, PLEK, FGD4, MCF2, CDC42
42fibrinogen458.7F10, ABCA1, F2, TNXA, CTTN, F5
43arginine458.5TNXA, F5, F10, CDC42, PLEK, MCF2
44phospholipid458.3F5, F10, ABCA1, PLSCR1, PLEK, TNXA
45alanine458.2CDC42, PLEK, F10, F2, F5, TNXA
46threonine458.1CDC42, F5, ABCA1, CTTN, MCF2, PLEK
47phosphatidylserine45 29 119.7PLEK, ABCA1, F2, PLSCR1, F10, CDC42
48serine457.3PLEK, PTPN3, TNXA, ABCA1, MCF2, CDC42
49lipid457.2TNXA, PTPN3, PLEK, PLSCR1, ABCA1, MCF2
50calcium45 50 11 249.5F5, CTTN, TNXA, ABCA1, PLEK, ANO6

GO Terms for genes affiliated with Scott Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Scott Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ruffle membraneGO:0325879.1FGD2, FGD5, PLEK
2ruffleGO:0017268.5FGD5, FGD1, CTTN, FGD2, FGD3, FGD4
3lamellipodiumGO:0300278.5FGD1, CTTN, FGD5, FGD4, FGD3, FGD2
4Golgi apparatusGO:0057947.8FGD2, FGD3, FGD1, FGD4, FGD5, ABCA1
5cytoskeletonGO:0058567.7CTTN, NEXN, MCF2, FGD2, FGD3, FGD1
6cytosolGO:0058296.8FARP2, CDC42, PLEK, PLSCR1, FGD4, FGD1
7cytoplasmGO:0057376.3PLEK, FGD5, FGD4, FGD1, FGD3, PTPN3

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:00759710.0F2, F10
2peptidyl-glutamic acid carboxylationGO:0171879.7F2, F10
3phospholipid scramblingGO:0171219.5ANO6, PLSCR1
4apoptotic signaling pathwayGO:0971909.4MCF2, FGD2, FGD3, FGD1, FGD4
5positive regulation of apoptotic processGO:0430659.3FGD4, FGD2, FGD1, FGD3, MCF2
6neurotrophin TRK receptor signaling pathwayGO:0480119.3MCF2, FGD2, FGD3, FGD1, FGD4
7regulation of Cdc42 GTPase activityGO:0430889.2FGD5, FGD2, FGD3, FGD4, FGD1
8cytoskeleton organizationGO:0070109.1FGD1, FGD3, FGD4, FGD2, FGD5
9regulation of cell shapeGO:0083608.9F2, FGD5, FGD4, FGD1, FGD3, FGD2
10regulation of small GTPase mediated signal transductionGO:0510568.8FGD3, CDC42, MCF2, FGD2, FGD1, FGD4
11small GTPase mediated signal transductionGO:0072648.7FGD4, FGD1, FGD3, MCF2, CDC42, FGD2
12blood coagulationGO:0075968.6F10, ANO6, CDC42, F2, PLEK, F5
13platelet activationGO:0301688.6PLEK, PLSCR1, F2, F5
14filopodium assemblyGO:0468478.6CDC42, FGD2, FGD3, FGD1, FGD5, FGD4
15actin cytoskeleton organizationGO:0300368.5FGD1, FGD4, FGD5, FGD3, FGD2, CDC42

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

idNameGO IDScoreTop Affiliating Genes
1guanyl-nucleotide exchange factor activityGO:0050858.9FGD4, FGD1, FGD3, FGD2, FGD5
2small GTPase bindingGO:0312678.6FGD2, FGD3, FGD1, FGD4, FGD5, ABCA1
3Rho guanyl-nucleotide exchange factor activityGO:0050898.3FARP2, MCF2, FGD2, FGD3, FGD1, FGD4
4phospholipid bindingGO:0055437.7FARP2, F10, MCF2, FGD2, FGD3, FGD1

Products for genes affiliated with Scott Syndrome

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  • Lysates
  • Antibodies

Sources for Scott Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet