Thrombophilia Due To Protein C Deficiency, Autosomal Dominant; Thph3

Description

Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984).Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.

Clinical Features

Top most frequent phenotypes and symptoms related to Thrombophilia Due To Protein C Deficiency, Autosomal Dominant; Thph3

  • Seizures
  • Pain
  • Abnormality of the nervous system
  • Abnormality of the eye
  • Stroke
  • Abnormal bleeding
  • Myocardial infarction
  • Purpura
  • Venous thrombosis
  • Thromboembolism

And another 14 symptoms. If you need more information about this disease we can help you.

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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

Thrombophilia Due To Protein C Deficiency, Autosomal Dominant; Thph3 Is also known as proc deficiency, autosomal dominant, protein c deficiency, autosomal dominant.

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.

Thrombophilia Due To Protein C Deficiency, Autosomal Dominant; Thph3 Recommended genes panels

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

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

PROC
Specificity
100 %
Genes
100 %
PROC Deletion/duplication analysis.

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

PROC
Specificity
100 %
Genes
100 %
PROC. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

PROC
Specificity
100 %
Genes
100 %
Sequencing of PROC gene (Protein C deficiency).

By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States).

PROC
Specificity
100 %
Genes
100 %
Protein C deficiency (sequence analysis of PROC gene).

By CGC Genetics (Portugal).

PROC
Specificity
100 %
Genes
100 %
Thrombophilia due to activated protein C resistance.

By CGC Genetics (Portugal).

PROC
Specificity
100 %
Genes
100 %
Protein C deficiency (deletion/duplication analysis on PROC gene).

By CGC Genetics (Portugal).

PROC
Specificity
100 %
Genes
100 %
Protein C deficiency (deletion/duplication analysis on PROC gene).

By CGC Genetics (Portugal).

PROC
Specificity
100 %
Genes
100 %

You can get up to 21 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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