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SCOTT SYNDROME(SCTS)

MedGen UID:
167107
Concept ID:
C0796149
Disease or Syndrome
Synonyms: BLEEDING ABNORMALITY DUE TO DEFICIENCY OF PLATELET BINDING OF FACTOR X; BLEEDING DISORDER, PLATELET-TYPE, 7; Platelet factor X receptor deficiency; PROTHROMBIN CONSUMPTION DEFICIENCY; PROTHROMBIN CONSUMPTION INHIBITOR, FAMILIAL; PROTHROMBIN CONVERSION DEFECT, FAMILIAL; SCTS
SNOMED CT: Scott syndrome (128098009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ANO6 (12q12)
 
Monarch Initiative: MONDO:0009885
OMIM®: 262890
Orphanet: ORPHA806

Definition

Scott syndrome (SCTS) is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents (Munnix et al., 2003). [from OMIM]

Clinical features

From HPO
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Factor X activation deficiency
MedGen UID:
870255
Concept ID:
C4024693
Finding
Reduced ability to transform factor X into its activated form factor Xa.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSCOTT SYNDROME
Follow this link to review classifications for SCOTT SYNDROME in Orphanet.

Professional guidelines

PubMed

Zanetti Drumond V, Sousa Salgado L, Sousa Salgado C, Oliveira VAL, de Assis EM, Campos Ribeiro M, Furtado Valadão A, Orrico A
Genet Res (Camb) 2021;2021:6652957. Epub 2021 Feb 2 doi: 10.1155/2021/6652957. PMID: 33762894Free PMC Article
Nurden P, Stritt S, Favier R, Nurden AT
Haematologica 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153. [Epub ahead of print] PMID: 33147934Free PMC Article
Orrico A, Galli L, Clayton-Smith J, Fryns JP
Eur J Hum Genet 2011 Nov;19(11) Epub 2011 Jun 8 doi: 10.1038/ejhg.2011.108. PMID: 21654724Free PMC Article

Recent clinical studies

Etiology

Mosleh MM, Heo TG, Shin HB, Sohn MJ
Childs Nerv Syst 2023 Jan;39(1):57-64. Epub 2022 Nov 24 doi: 10.1007/s00381-022-05768-1. PMID: 36422695
Grossen A, Gavula T, Chrusciel D, Evans A, McNall-Knapp R, Taylor A, Fossey B, Brakefield M, Carter C, Schwartz N, Gross N, Jea A, Desai V
Neurosurg Focus 2022 May;52(5):E2. doi: 10.3171/2022.2.FOCUS21776. PMID: 35535824
Tohidi-Esfahani I, Lee CSM, Liang HPH, Chen VMY
Int J Lab Hematol 2020 Jun;42 Suppl 1:59-67. doi: 10.1111/ijlh.13197. PMID: 32543068
Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V
Am J Med Genet A 2010 Feb;152A(2):313-8. doi: 10.1002/ajmg.a.33199. PMID: 20082460
Nurden AT
J Thromb Haemost 2005 Aug;3(8):1773-82. doi: 10.1111/j.1538-7836.2005.01428.x. PMID: 16102044

Diagnosis

Braiotta F, Paglia M, Mummolo S
Eur J Paediatr Dent 2023 Sep 1;24(3):238 - 240. Epub 2023 Jun 1 doi: 10.23804/ejpd.2023.1953. PMID: 37337880
Nurden P, Stritt S, Favier R, Nurden AT
Haematologica 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153. [Epub ahead of print] PMID: 33147934Free PMC Article
Tohidi-Esfahani I, Lee CSM, Liang HPH, Chen VMY
Int J Lab Hematol 2020 Jun;42 Suppl 1:59-67. doi: 10.1111/ijlh.13197. PMID: 32543068
Nayak RB, Ambika L, Bhogale GS, Pandurangi A
Indian Pediatr 2012 Apr;49(4):327-8. PMID: 22565081
Piccin A, Murphy WG, Smith OP
Blood Rev 2007 May;21(3):157-71. Epub 2006 Nov 22 doi: 10.1016/j.blre.2006.09.001. PMID: 17118501

Therapy

Fouassier M, Babuty A, Debord C, Béné MC
Cytometry B Clin Cytom 2020 Nov;98(6):464-475. Epub 2020 Jun 9 doi: 10.1002/cyto.b.21892. PMID: 32516490
Şıklar Z, Berberoğlu M
J Clin Res Pediatr Endocrinol 2014;6(1):1-8. doi: 10.4274/Jcrpe.1149. PMID: 24637303Free PMC Article
Bevers EM, Comfurius P, Dekkers DW, Harmsma M, Zwaal RF
Lupus 1998;7 Suppl 2:S126-31. doi: 10.1177/096120339800700228. PMID: 9814689

Prognosis

Hamzeh AR, Saif F, Nair P, Binjab AJ, Mohamed M, Al-Ali MT, Bastaki F
BMC Pediatr 2017 Jan 19;17(1):31. doi: 10.1186/s12887-017-0781-4. PMID: 28103835Free PMC Article
Parıltay E, Hazan F, Ataman E, Demir K, Etlik Ö, Özbek E, Özkan B
J Pediatr Endocrinol Metab 2016 Sep 1;29(9):1111-4. doi: 10.1515/jpem-2015-0482. PMID: 27544718
Yanagi K, Kaname T, Chinen Y, Naritomi K
Congenit Anom (Kyoto) 2004 Sep;44(3):137-41. doi: 10.1111/j.1741-4520.2004.00026.x. PMID: 15327482

Clinical prediction guides

Zanetti Drumond V, Sousa Salgado L, Sousa Salgado C, Oliveira VAL, de Assis EM, Campos Ribeiro M, Furtado Valadão A, Orrico A
Genet Res (Camb) 2021;2021:6652957. Epub 2021 Feb 2 doi: 10.1155/2021/6652957. PMID: 33762894Free PMC Article
Oh U, Jung J
Pflugers Arch 2016 Mar;468(3):443-53. Epub 2016 Jan 25 doi: 10.1007/s00424-016-1790-0. PMID: 26811235Free PMC Article
Hasegawa K, Tanaka H
Pediatr Int 2014 Dec;56(6):809-812. Epub 2014 Nov 28 doi: 10.1111/ped.12511. PMID: 25244068
Bevers EM, Williamson PL
FEBS Lett 2010 Jul 2;584(13):2724-30. Epub 2010 Mar 17 doi: 10.1016/j.febslet.2010.03.020. PMID: 20302864
Zwaal RF, Comfurius P, Bevers EM
Biochim Biophys Acta 2004 Mar 22;1636(2-3):119-28. doi: 10.1016/j.bbalip.2003.07.003. PMID: 15164759

Recent systematic reviews

Grossen A, Gavula T, Chrusciel D, Evans A, McNall-Knapp R, Taylor A, Fossey B, Brakefield M, Carter C, Schwartz N, Gross N, Jea A, Desai V
Neurosurg Focus 2022 May;52(5):E2. doi: 10.3171/2022.2.FOCUS21776. PMID: 35535824
Zanetti Drumond V, Sousa Salgado L, Sousa Salgado C, Oliveira VAL, de Assis EM, Campos Ribeiro M, Furtado Valadão A, Orrico A
Genet Res (Camb) 2021;2021:6652957. Epub 2021 Feb 2 doi: 10.1155/2021/6652957. PMID: 33762894Free PMC Article

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