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

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.


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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 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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