PROS1 gene related symptoms and diseases

All the information presented here about the PROS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PROS1 gene

Symptoms // Phenotype % Cases
Purpura Very Common - Between 80% and 100% cases
Deep venous thrombosis Very Common - Between 80% and 100% cases
Arterial thrombosis Common - Between 50% and 80% cases
Venous thrombosis Common - Between 50% and 80% cases
Pulmonary embolism Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with PROS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypercoagulability
  • Not very common - Between 30% and 50% cases

  • Superficial thrombophlebitis
  • Retinopathy
  • Shock
  • Disseminated intravascular coagulation
  • Reduced protein S activity
  • Cerebral venous thrombosis
  • Thrombophlebitis

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PROS1 gene

Here you will find a list of rare diseases related to the PROS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PROTEIN S ACQUIRED DEFICIENCY


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.

Most common symptoms of PROTEIN S ACQUIRED DEFICIENCY

  • Abnormality of metabolism/homeostasis
  • Stroke
  • Hemiparesis
  • Purpura
  • Venous thrombosis


More info about PROTEIN S ACQUIRED DEFICIENCY

SOURCES: MESH ORPHANET OMIM

THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2


Alternate names

THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2 Is also known as proc cofactor deficiency, apc resistance, thrombophilia due to deficiency of activated protein c cofactor, activated protein c resistance, thrombophilia v, pccf deficiency

Description

Thrombophilia due to activated protein C resistance is due to a mutation in the F5 gene that renders factor V resistant to cleavage and inactivation by activated protein C (PROC ) and results in a tendency to thrombosis.See also factor V deficiency (OMIM ), an allelic disorder resulting in a hemorrhagic diathesis due to lack of factor V.The most common mutation that causes this disorder is referred to as factor V Leiden (R506Q; {612309.0001}), named after the town in the Netherlands where Bertina et al. (1994) discovered the defect. Homozygosity increases the risk of thrombotic complications to a greater extent than heterozygosity. However, heterozygous presence of the mutation may be combined with defects in other genes in the clotting pathway to contribute to the disorder. Expressivity is variable and influenced by environment.

Most common symptoms of THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2

  • Patent ductus arteriosus
  • Scarring
  • Abnormal bleeding
  • Sepsis
  • Purpura


More info about THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2

SOURCES: OMIM MESH

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6


Description

Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage (Pung-amritt et al., 1999; Fischer et al., 2010), whereas others have recurrent thromboses later in childhood (Comp et al., 1984).See also autosomal dominant thrombophilia due to protein S deficiency (THPH5 ), a less severe disorder caused by heterozygous mutation in the PROS1 gene.

Most common symptoms of THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6

  • Seizures
  • Blindness
  • Retinopathy
  • Purpura
  • Shock


More info about THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6

SOURCES: OMIM

SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY


Alternate names

SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY Is also known as autosomal recessive thrombophilia due to congenital protein s deficiency

Description

Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.

Most common symptoms of SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY

  • Retinopathy
  • Abnormality of skin pigmentation
  • Thin skin
  • Skin ulcer
  • Purpura


More info about SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for PROS1 gene

PROS1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the PROS1 gene.

More info about this panel

Protein S Deficiency Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the PROS1 gene.

More info about this panel

Protein S deficiency (sequence analysis of PROS1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PROS1 gene.

More info about this panel

Protein S deficiency (deletion/duplication analysis of PROS1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PROS1 gene.

More info about this panel

Protein S deficiency Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the PROS1 gene.

More info about this panel

Protein S Deficiency via PROS1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PROS1 gene.

More info about this panel

Protein S Deficiency, AD Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PROS1 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

PROS1 gene analysis Panel

United Kingdom.

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

This panel specifically test the PROS1 gene.

More info about this panel

Protein S Deficiency Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital

This panel specifically test the PROS1 gene.

More info about this panel

Protein S Deficiency (PROS1) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PROS1 gene.

More info about this panel

Protein S deficiency, PROS1 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the PROS1 gene.

More info about this panel

Protein S deficiency Panel

United Kingdom.

By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust

This panel specifically test the PROS1 gene.

More info about this panel

Invitae Protein S Deficiency Test Panel

United States.

By Invitae

This panel specifically test the PROS1 gene.

More info about this panel

Invitae Hereditary Thrombophilia Panel Panel

United States.

By Invitae Invitae Hereditary Thrombophilia Panel that also includes the following genes: F2 F5 SERPINC1 PROC PROS1

More info about this panel

PROS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PROS1 gene.

More info about this panel

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Genetic Study of Hereditary Thrombophilia (11 genes) Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Genetic Study of Hereditary Thrombophilia (11 genes) that also includes the following genes: F12 F13A1 F2 F5 GP1BA MTHFR SERPINC1 SERPINE1 PROCR PROS1

More info about this panel

CONGENITAL PROTEIN S DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PROS1 gene.

More info about this panel

Autosomal Recessive Congenital Protein S Deficiency, Sequencing PROS1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PROS1 gene.

More info about this panel

Autosomal Dominant Congenital Protein S Deficiency, Sequencing PROS1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PROS1 gene.

More info about this panel

Thrombophilia due to protein S deficiency Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the PROS1 gene.

More info about this panel

Phosphorus Female Infertility Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Female Infertility Panel that also includes the following genes: BMP15 FOXL2 STAG3 ZP1 CAPN10 THADA NOBOX CYP11A1 CYP17A1 CYP19A1

More info about this panel


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