Thrombophilia Due To Protein C Deficiency, Autosomal Dominant; Thph3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Thrombophilia Due To Protein C Deficiency, Autosomal Dominant; Thph3

PROC

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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 %

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Sources and references

You can check the following sources for additional information.

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