Scott Syndrome; Scts

Description

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).

Genes related to Scott Syndrome; Scts

ANO6

Clinical Features

Phenotypes and symptoms related to Scott Syndrome; Scts

Milia
Tics
Erythema
Abnormal bleeding
Epistaxis
Systemic lupus erythematosus
Intramuscular hematoma
Hyphema
Factor X activation deficiency

Incidence and onset information

— Not enough data available about incidence and published cases.

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Scott Syndrome; Scts Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...) View the complete list with 35 more genes Panel GTR000552337 complete gene list RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8, ABCA1, GP1BA, DHCR24, A2M, ANO6, ADRA2A, FERMT3, GP6, FGA, FGB, GGCX, MYO5A, GNAQ, RAB27A, TBXA2R, VPS33B, FGG, MLPH, PLA2G7, P2RX1, KLKB1, P2RY12, USF1, VIPAS39, TBXAS1, STIM1, PLAU, NBEAL2, ITGA2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL Specificity 2 % Genes 100 %
Bleeding Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...) View the complete list with 41 more genes Panel GTR000512341 complete gene list F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF, F9, F8, ADAMTS13, ABCG5, ABCG8, GP1BA, ANO6, GP6, FGA, FGB, GGCX, TBXA2R, FGG, P2RX1, P2RY12, TBXAS1, PLAU, NBEAL2, ITGA2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL, SERPINE1, GP1BB, VKORC1, F7, PRKACG, FLI1, ACTN1, TUBB1, GP9, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1 Specificity 2 % Genes 100 %
Platelet Function Disorder Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GP1BA, ANO6, GP6, TBXA2R, P2RX1, P2RY12, TBXAS1, PLAU, ITGA2, CD36, ITGB3, ITGA2B , (...) View the complete list with 2 more genes Panel GTR000512286 complete gene list DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GP1BA, ANO6, GP6, TBXA2R, P2RX1, P2RY12, TBXAS1, PLAU, ITGA2, CD36, ITGB3, ITGA2B, GP1BB, GP9 Specificity 5 % Genes 100 %
Scott Syndrome via the ANO6 Gene. By PreventionGenetics PreventionGenetics in United States. ANO6 Specificity 100 % Genes 100 %
Platelet bleeding disorders NGS panel. By Connective Tissue Gene Tests in United States. DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...) View the complete list with 14 more genes Panel GTR000559354 complete gene list DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12, TBXAS1, PLAU, NBEAL2, GFI1B, CD36, ITGB3, ITGA2B, GP1BB, WIPF1, SLFN14, PRKACG, ACTN1, GP9, RASGRP2 Specificity 3 % Genes 100 %
Platelet bleeding disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...) View the complete list with 14 more genes Panel GTR000559388 complete gene list DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12, TBXAS1, PLAU, NBEAL2, GFI1B, CD36, ITGB3, ITGA2B, GP1BB, WIPF1, SLFN14, PRKACG, ACTN1, GP9, RASGRP2 Specificity 3 % Genes 100 %
Platelet bleeding disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...) View the complete list with 14 more genes Panel GTR000559439 complete gene list DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12, TBXAS1, PLAU, NBEAL2, GFI1B, CD36, ITGB3, ITGA2B, GP1BB, WIPF1, SLFN14, PRKACG, ACTN1, GP9, RASGRP2 Specificity 3 % Genes 100 %
ANO6. By Fulgent Genetics Fulgent Genetics in United States. ANO6 Specificity 100 % Genes 100 %
Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes. By Reference Laboratory Genetics in Spain. DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GP1BA, ANO6, GP6, TBXA2R, P2RY12, ITGB3, ITGA2B, GP1BB, GP9 Specificity 6 % Genes 100 %

Alternate names

Scott Syndrome; Scts Is also known as bleeding disorder, platelet-type, 7;bdplt7, bleeding abnormality due to deficiency of platelet binding of factor x, prothrombin conversion defect, familial, prothrombin consumption deficiency, prothrombin consumption inhibitor, familial;.

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