Scott Syndrome malady

Blood diseases category

Summaries for Scott Syndrome

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 factor viii 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.

Description from OMIM:46 262890

Aliases & Classifications for Scott Syndrome

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42NIH Rare Diseases, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases

Characteristics (Orphanet epidemiological data):

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

Aliases & Descriptions:

scott syndrome 42 46 44 48 60
platelet factor x receptor deficiency 42

External Ids:

OMIM46 262890
ICD10 via Orphanet26 D69.8
SNOMED-CT via Orphanet57 128098009
UMLS via Orphanet61 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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1aarskog-scott syndrome31.2PLEK, FGD5, FGD1, FGD3, MCF2, CDC42
2factor viii deficiency30.0F5
3factor x deficiency30.0F10, F2, F5
4epiphyseal dysplasia hearing loss dysmorphism10.2
5fibular aplasia, tibial campomelia, and oligosyndactyly syndrome10.2
6pelvic dysplasia arthrogryposis of lower limbs10.2
7limb transversal defect - cardiac anomaly10.2
8attention deficit hyperactivity disorder10.0
9platelet storage pool deficiency10.0
10hypermobility syndrome10.0
12cerebrovascular disease10.0
15bernard-soulier syndrome type c10.0
16lateral sclerosis10.0PLEK
20inherited hypoprothrombinemia10.0F2, F10
21purpura fulminans10.0F5
22thrombocytosis10.0F2, F10
23central retinal vein occlusion10.0F5
24quebec platelet disorder10.0F5, F10
25factor xii deficiency10.0F5
26patent foramen ovale10.0F5
27dysfibrinogenemia10.0F2, F5
28stroke, ischemic10.0F2, F5
29prothrombin deficiency10.0F2, F5
30factor v deficiency10.0F5, F2
31blood protein disease10.0F2, F5
32antithrombin iii deficiency10.0F5, F10, F2
33hemorrhagic disease10.0F2, F10, F5
34factor vii deficiency10.0F5, F10, F2
35afibrinogenemia10.0F10, F5, F2
36factor xi deficiency10.0F5, F2
37pregnancy loss10.0F2, F10, F5
38leukemia10.0MCF2, CDC42, PLEK, F10
39antiphospholipid syndrome10.0TNXA, F2, F10, F5
40venous thrombosis10.0F2, F10, F5, TNXA
41pulmonary embolism10.0F10, F5, TNXA, F2
42diabetes mellitus10.0PTPN3, ABCA1, F10
43thrombophilia10.0F10, TNXA, F5, F2
44disseminated intravascular coagulation10.0F10, F2, TNXA, F5
45factor v leiden thrombophilia10.0F5, TNXA, F10, F2
46thromboembolism10.0TNXA, F5, F2, F10
47cadasil10.0F2, ABCA1, F10, F5
48von willebrand's disease10.0F2, F5
49thrombocytopenia10.0TNXA, F10, F2, F5, PLEK
50hepatocellular carcinoma10.0CTTN, ABCA1, F2, F10, PTPN3

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

Diseases related to scott syndrome

Clinical Features for Scott Syndrome

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Clinical features from OMIM:


Clinical synopsis from OMIM:


Drugs & Therapeutics for Scott Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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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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Animal Models for Scott Syndrome or affiliated genes

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Publications for Scott Syndrome

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Genetic Variations for Scott Syndrome

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Expression for genes affiliated with Scott Syndrome

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1BioGPS, 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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53Reactome, 49PharmGKB, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN, 52R&D Systems, 12EMD Millipore
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Pathways related to Scott Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
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10.0F2, F10
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9.7F5, F10, F2
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9.7F5, F10, F2
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9.7F2, F10, F5
59.2FGD1, MCF2, CDC42, FARP2
69.2CDC42, MCF2, FGD1, FGD4
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9.1F2, FGD1, FGD3, CDC42
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8.6FGD4, FGD1, FGD3, FGD2, MCF2, CDC42
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8.6CDC42, MCF2, FGD2, FGD3, FGD1, FGD4
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8.6CDC42, MCF2, FGD2, FGD3, FGD1, FGD4

Compounds for genes affiliated with Scott Syndrome

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44Novoseek, 11DrugBank, 2BitterDB, 49PharmGKB, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Scott Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
3bothrojaracin4410.3F2, F10
4dx 9065a4410.3F2, F10
7ac-ap4410.3F2, F10
8Gamma-Carboxy-Glutamic Acid1110.3F2, F10
9dioleoyl phosphatidylserine4410.3F10, F2
10inogatran4410.1F5, F2
11ecotin4410.1F10, F5
12antistasin4410.1F2, F10
13ecarin4410.1F2, F5, F10
14spectrozyme4410.1F5, F2, F10
15kaolin4410.1F2, F10, F5
16ancrod4410.1F5, F10, F2
17hirugen4410.1F2, F5
18ximelagatran44 1111.1F5, F10, F2
19heparinoids4410.1F5, F2, F10
20protamine sulfate4410.1F5, F10, F2
21nadroparin44 1111.0TNXA, F10
22coumarin44 2 49 2413.0F10, F5, F2
23cardiolipin44 1111.0F5, F10, F2
24rfviii4410.0F5, F10
25clopidogrel49 44 11 2413.0F10, TNXA, F2
26batroxobin449.9F5, F2
27convulxin449.8F10, PTPN3, F5
28danaparoid449.8F2, F10, F5, TNXA
29fondaparinux449.8F10, F5, F2, TNXA
30bivalirudin44 1110.8F10, F2, F5, TNXA
31argatroban44 1110.8F10, F2, F5, TNXA
32gamma-carboxyglutamic acid449.8F10, F5, F2, TNXA
33hirudin449.8TNXA, F5, F10, F2
34protamine449.8TNXA, F10, F2, F5
35dermatan sulfate449.7F5, F2, F10, TNXA
36dabigatran etexilate44 1110.7F10, F2
37simvastatin44 49 59 28 11 2414.4F2, CTTN, F5, F10, ABCA1
38gdp449.2FGD4, PLEK, MCF2, CDC42
39aspirin44 49 28 2412.1F10, ABCA1, PLEK, TNXA, F5, F2
40phosphatidylcholine448.9ABCA1, F2, F10, F5, TNXA, CDC42
41gtp44 289.7CTTN, PLEK, FGD4, MCF2, CDC42
42fibrinogen448.7F10, ABCA1, F2, TNXA, CTTN, F5
43arginine448.5TNXA, F5, F10, CDC42, PLEK, MCF2
44phospholipid448.3F5, F10, ABCA1, PLSCR1, PLEK, TNXA
45alanine448.2CDC42, PLEK, F10, F2, F5, TNXA
46threonine448.1CDC42, F5, ABCA1, CTTN, MCF2, PLEK
47phosphatidylserine44 28 119.7PLEK, ABCA1, F2, PLSCR1, F10, CDC42
48serine447.3PLEK, PTPN3, TNXA, ABCA1, MCF2, CDC42
49lipid447.2TNXA, PTPN3, PLEK, PLSCR1, ABCA1, MCF2
50calcium44 49 11 249.5F5, CTTN, TNXA, ABCA1, PLEK, 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
1ruffle membraneGO:0325879.1FGD2, FGD5, PLEK
2ruffleGO:0017268.5CTTN, FGD2, FGD3, FGD1, FGD4, FGD5
3lamellipodiumGO:0300278.5CTTN, FGD2, FGD3, FGD1, FGD4, FGD5
4Golgi apparatusGO:0057947.8FGD2, FGD3, FGD1, FGD4, FGD5, ABCA1
5cytoskeletonGO:0058567.7PTPN3, FARP2, CTTN, NEXN, MCF2, FGD2
6cytosolGO:0058296.8FARP2, CDC42, MCF2, FGD2, FGD3, FGD1
7cytoplasmGO:0057376.3CTTN, CDC42, FGD2, FGD3, FGD1, FGD4

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:0430659.3MCF2, FGD2, FGD3, FGD1, FGD4
6neurotrophin TRK receptor signaling pathwayGO:0480119.3FGD4, FGD1, FGD3, FGD2, MCF2
7regulation of Cdc42 GTPase activityGO:0430889.2FGD2, FGD3, FGD1, FGD4, FGD5
8cytoskeleton organizationGO:0070109.1FGD2, FGD3, FGD1, FGD4, FGD5
9regulation of cell shapeGO:0083608.9FGD2, FGD3, FGD1, FGD4, FGD5, F2
10regulation of small GTPase mediated signal transductionGO:0510568.8CDC42, MCF2, FGD2, FGD3, FGD1, FGD4
11small GTPase mediated signal transductionGO:0072648.7CDC42, MCF2, FGD2, FGD3, FGD1, FGD4
12blood coagulationGO:0075968.6F5, F10, ANO6, CDC42, F2, PLEK
13platelet activationGO:0301688.6PLEK, PLSCR1, F2, F5
14filopodium assemblyGO:0468478.6FGD5, FGD4, FGD1, FGD3, FGD2, CDC42
15actin cytoskeleton organizationGO:0300368.5CDC42, FGD2, FGD3, FGD1, FGD4, FGD5

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

idNameGO IDScoreTop Affiliating Genes
1guanyl-nucleotide exchange factor activityGO:0050858.9FGD5, FGD4, FGD1, FGD3, FGD2
2small GTPase bindingGO:0312678.6ABCA1, FGD5, FGD4, FGD1, FGD3, FGD2
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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  • Antibodies
  • Proteins
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Sources for Scott Syndrome

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26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
61UMLS via Orphanet