Severe Hereditary 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.

Clinical Features

Top most frequent phenotypes and symptoms related to Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency

  • Retinopathy
  • Abnormality of skin pigmentation
  • Thin skin
  • Skin ulcer
  • Purpura
  • Aplasia/Hypoplasia of the skin
  • Pulmonary embolism
  • Gangrene
  • Deep venous thrombosis
  • Abnormality of the cerebral vasculature

And another 4 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency Is also known as autosomal recessive thrombophilia due to congenital protein s deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency 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 (United States).

PROS1
Specificity
100 %
Genes
100 %
Protein S Deficiency.

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

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

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

PROS1
Specificity
100 %
Genes
100 %
Protein S deficiency.

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

PROS1
Specificity
100 %
Genes
100 %
Protein S Deficiency via PROS1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

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

By Centogene AG - the Rare Disease Company (Germany).

PROS1
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %

You can get up to 17 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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