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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
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Scott syndrome (128098009)
 
Gene (location): ANO6 (12q12)
OMIM®: 262890
Orphanet: ORPHA806

Definition

Scott syndrome 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

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.

Recent clinical studies

Etiology

Arias Urueña L, Briceño Balcazar I, Martinez Lozano J, Collins A, Uricoechea Patiño DA
Colomb Med (Cali) 2015 Dec 30;46(4):162-7. PMID: 26848196Free PMC Article
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
Thomas CP, Morgan LT, Maskrey BH, Murphy RC, Kühn H, Hazen SL, Goodall AH, Hamali HA, Collins PW, O'Donnell VB
J Biol Chem 2010 Mar 5;285(10):6891-903. Epub 2010 Jan 8 doi: 10.1074/jbc.M109.078428. PMID: 20061396Free PMC Article
Kozian D, Proulle V, Nitsche A, Galitzine M, Martinez MC, Schumann B, Meyer D, Herrmann M, Freyssinet JM, Kerbiriou-Nabias D
BMC Genomics 2005 Oct 21;6:146. doi: 10.1186/1471-2164-6-146. PMID: 16242039Free PMC Article
Nurden AT
J Thromb Haemost 2005 Aug;3(8):1773-82. doi: 10.1111/j.1538-7836.2005.01428.x. PMID: 16102044

Diagnosis

Orrico A, Galli L, Clayton-Smith J, Fryns JP
Eur J Hum Genet 2015 Apr;23(4) Epub 2014 Sep 17 doi: 10.1038/ejhg.2014.178. PMID: 25227149Free PMC Article
Aten E, Sun Y, Almomani R, Santen GW, Messemaker T, Maas SM, Breuning MH, den Dunnen JT
Hum Mutat 2013 Mar;34(3):430-4. Epub 2012 Dec 20 doi: 10.1002/humu.22252. PMID: 23169394
Nayak RB, Ambika L, Bhogale GS, Pandurangi A
Indian Pediatr 2012 Apr;49(4):327-8. PMID: 22565081
Flores-Nascimento MC, Orsi FL, Yokoyama AP, Pereira FG, Lorand-Metze I, De Paula EV, Castro V, Annichino-Bizzacchi JM
Blood Coagul Fibrinolysis 2012 Jan;23(1):75-7. doi: 10.1097/MBC.0b013e32834d0c81. PMID: 22027759
Pilozzi-Edmonds L, Maher TA, Basran RK, Milunsky A, Al-Thihli K, Braverman NE, Alfares A
Am J Med Genet A 2011 Aug;155A(8):1987-90. Epub 2011 Jul 7 doi: 10.1002/ajmg.a.34094. PMID: 21739585

Therapy

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. PMID: 9814689

Prognosis

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

Völter C, Martínez R, Hagen R, Kress W
Eur J Pediatr 2014 Oct;173(10):1373-6. Epub 2014 Apr 27 doi: 10.1007/s00431-014-2317-3. PMID: 24770546
Brooks M, Etter K, Catalfamo J, Brisbin A, Bustamante C, Mezey J
Gene 2010 Jan 15;450(1-2):70-5. doi: 10.1016/j.gene.2009.09.016. PMID: 19854246Free PMC Article
Wielders SJ, Broers J, ten Cate H, Collins PW, Bevers EM, Lindhout T
Thromb Haemost 2009 Jul;102(1):76-82. doi: 10.1160/TH08-11-0719. PMID: 19572071
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
Imam-Sghiouar N, Laude-Lemaire I, Labas V, Pflieger D, Le Caër JP, Caron M, Nabias DK, Joubert-Caron R
Proteomics 2002 Jul;2(7):828-38. doi: 10.1002/1615-9861(200207)2:7<828::AID-PROT828>3.0.CO;2-T. PMID: 12124928

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