Thrombophilia Due To Protein S Deficiency, Autosomal Dominant; Thph5

Description

Heterozygous protein S deficiency, like protein C deficiency (OMIM ), is characterized by recurrent venous thrombosis. Bertina (1990) classified protein S deficiency into 3 clinical subtypes based on laboratory findings. Type I refers to deficiency of both free and total protein S as well as decreased protein S activity; type II shows normal plasma values, but decreased protein S activity; and type III shows decreased free protein S levels and activity, but normal total protein S levels. Approximately 40% of protein S circulates as a free active form, whereas the remaining 60% circulates as an inactive form bound to C4BPA (OMIM ).Zoller et al. (1995) observed coexistence of type I and type III PROS1-deficient phenotypes within a single family and determined that the subtypes are allelic. Under normal conditions, the concentration of protein S exceeds that of C4BPA by approximately 30 to 40%. Thus, free protein S is the molar surplus of protein S over C4BPA. Mild protein S deficiency will thus present with selective deficiency of free protein S, whereas more pronounced protein S deficiency will also decrease the complexed protein S and consequently the total protein S level. These findings explained why assays for free protein S have a higher predictive value for protein S deficiency.See also autosomal recessive thrombophilia due to protein S deficiency (THPH6 ), which is a more severe disorder.

Clinical Features

Top most frequent phenotypes and symptoms related to Thrombophilia Due To Protein S Deficiency, Autosomal Dominant; Thph5

  • Abnormality of metabolism/homeostasis
  • Stroke
  • Hemiparesis
  • Ischemic stroke
  • Purpura
  • Venous thrombosis
  • Pulmonary embolism
  • Thromboembolism
  • Hypercoagulability
  • Arterial thrombosis
And another 10 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Thrombophilia Due To Protein S Deficiency, Autosomal Dominant; Thph5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PROS1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PROS1
Specificity
100 %
Genes
100 %
Protein S Deficiency.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

PROS1
Specificity
100 %
Genes
100 %
Protein S deficiency (sequence analysis of PROS1 gene).

By CGC Genetics in Portugal.

PROS1
Specificity
100 %
Genes
100 %
Protein S deficiency (deletion/duplication analysis of PROS1 gene).

By CGC Genetics in Portugal.

PROS1
Specificity
100 %
Genes
100 %
Protein S deficiency.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

PROS1
Specificity
100 %
Genes
100 %
Protein S Deficiency via the PROS1 Gene.

By PreventionGenetics PreventionGenetics in United States.

PROS1
Specificity
100 %
Genes
100 %
Protein S Deficiency, AD.

By Centogene AG - the Rare Disease Company in Germany.

PROS1
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
PROS1 gene analysis.

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust in United Kingdom.

PROS1
Specificity
100 %
Genes
100 %
Protein S Deficiency.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

PROS1
Specificity
100 %
Genes
100 %
Protein S Deficiency (PROS1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PROS1
Specificity
100 %
Genes
100 %
Protein S deficiency, PROS1 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

PROS1
Specificity
100 %
Genes
100 %
Protein S deficiency.

By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust in United Kingdom.

PROS1
Specificity
100 %
Genes
100 %
Invitae Protein S Deficiency Test.

By Invitae in United States.

PROS1
Specificity
100 %
Genes
100 %
Invitae Hereditary Thrombophilia Panel.

By Invitae in United States.

F2, F5, PROS1, PROC, SERPINC1
Specificity
20 %
Genes
100 %
PROS1.

By Fulgent Genetics Fulgent Genetics in United States.

PROS1
Specificity
100 %
Genes
100 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Genetic Study of Hereditary Thrombophilia (11 genes).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

F2, F5, MTHFR, GP1BA, SERPINE1, PROS1, F12, F13A1, SERPINC1, PROCR
Specificity
10 %
Genes
100 %
CONGENITAL PROTEIN S DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

PROS1
Specificity
100 %
Genes
100 %
Autosomal Recessive Congenital Protein S Deficiency, Sequencing PROS1 Gene.

By Reference Laboratory Genetics in Spain.

PROS1
Specificity
100 %
Genes
100 %
Autosomal Dominant Congenital Protein S Deficiency, Sequencing PROS1 Gene.

By Reference Laboratory Genetics in Spain.

PROS1
Specificity
100 %
Genes
100 %
Thrombophilia due to protein S deficiency.

By Labor Dr. Wisplinghoff in Germany.

PROS1
Specificity
100 %
Genes
100 %
Phosphorus Female Infertility Panel.

By Phosphorus Diagnostics LLC in United States.

F2, F5, FMR1, FOXL2, CYP11A1, GALT, CYP17A1, LHCGR, KISS1R, GNRHR, NR5A1, GNAS, PROS1, PROC, CYP19A1, NOBOX, BMP15, FSHR, FSHB, SERPINC1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %


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