Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency

Description

Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency

  • Venous thrombosis
  • Thromboembolism
  • Pulmonary embolism
  • Deep venous thrombosis
  • Hypercoagulability
  • Thrombophlebitis
  • Reduced antithrombin III activity
  • Cerebral venous thrombosis
  • Recurrent deep vein thrombosis
  • Recurrent thrombophlebitis

And another 2 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

Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency Is also known as thph7, thrombophilia due to antithrombin iii deficiency, hereditary thrombophilia due to congenital antithrombin 3 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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Antithrombin Deficiency.

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

SERPINC1
Specificity
100 %
Genes
100 %
Antithrombin III deficiency (sequence analysis of SERPINC1 gene).

By CGC Genetics (Portugal).

SERPINC1
Specificity
100 %
Genes
100 %
Thrombophilia (p.Ser114Asn e p.Ala416Ser mutations on SERPINC1 gene).

By CGC Genetics (Portugal).

SERPINC1
Specificity
100 %
Genes
100 %
Antithrombin III deficiency.

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

SERPINC1
Specificity
100 %
Genes
100 %
Antithrombin Deficiency via SERPINC1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SERPINC1
Specificity
100 %
Genes
100 %
Antithrombin III deficiency.

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

SERPINC1
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 %
New Born testing (CentoICU).

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 %

We have 25 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like UNCOMBABLE HAIR SYNDROME 3; UHS3 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more