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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).
Autosomal recessive inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
Factor X activation deficiency
MedGen UID:
870255
•Concept ID:
C4024693
•
Finding
Reduced ability to transform factor X into its activated form factor Xa.
See: Feature record | Search on this feature

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

The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
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
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.
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
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
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

Sacrococcygeal teratomas: a case-based review from the perspective of individual multidisciplinary experts.
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
Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience.
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
Procoagulant platelets: Laboratory detection and clinical significance.
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
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
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
Qualitative disorders of platelets and megakaryocytes.
Nurden AT
J Thromb Haemost 2005 Aug;3(8):1773-82. doi: 10.1111/j.1538-7836.2005.01428.x. PMID: 16102044

Diagnosis

Aarskog-scott syndrome (AAS): a case report.
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
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.
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
Procoagulant platelets: Laboratory detection and clinical significance.
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
Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature.
Depeyre A, Schlund M, Gryseleyn R, Ferri J
J Oral Maxillofac Surg 2018 Oct;76(10):2202-2208. Epub 2018 Mar 29 doi: 10.1016/j.joms.2018.03.027. PMID: 29689188
Mania with Aarskog-Scott syndrome.
Nayak RB, Ambika L, Bhogale GS, Pandurangi A
Indian Pediatr 2012 Apr;49(4):327-8. PMID: 22565081

Therapy

Platelet immunophenotyping in health and inherited bleeding disorders, a review and practical hints.
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
Syndromic disorders with short stature.
Şıklar Z, Berberoğlu M
J Clin Res Pediatr Endocrinol 2014;6(1):1-8. doi: 10.4274/Jcrpe.1149. PMID: 24637303Free PMC Article
Regulatory mechanisms of transmembrane phospholipid distributions and pathophysiological implications of transbilayer lipid scrambling.
Bevers EM, Comfurius P, Dekkers DW, Harmsma M, Zwaal RF
Lupus 1998;7 Suppl 2:S126-31. doi: 10.1177/096120339800700228. PMID: 9814689

Prognosis

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
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
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
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
Novel alternative splicing of human faciogenital dysplasia 1 gene.
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

The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
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
Cellular functions of TMEM16/anoctamin.
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
Children with short-limbed short stature in pediatric endocrinological services in Japan.
Hasegawa K, Tanaka H
Pediatr Int 2014 Dec;56(6):809-812. Epub 2014 Nov 28 doi: 10.1111/ped.12511. PMID: 25244068
Phospholipid scramblase: an update.
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
Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids.
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

Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience.
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
The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
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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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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    • PubMed (OMIM)
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