PROC gene related symptoms and diseases

All the information presented here about the PROC gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to PROC gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Pulmonary embolism	Very Common - Between 80% and 100% cases
Warfarin-induced skin necrosis	Very Common - Between 80% and 100% cases
Reduced protein C activity	Very Common - Between 80% and 100% cases
Superficial thrombophlebitis	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PROC gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Recurrent deep vein thrombosis
Hypercoagulability
Deep venous thrombosis
Disseminated intravascular coagulation
Venous thrombosis
Purpura
Not very common - Between 30% and 50% cases
Blindness
Cerebral venous thrombosis

And 27 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PROC gene

Here you will find a list of rare diseases related to the PROC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY

Alternate names

SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY Is also known as proc deficiency, autosomal recessive, autosomal recessive thrombophilia due to pc deficiency, autosomal recessive thrombophilia due to congenital protein c deficiency, protein c deficiency, autosomal recessive

Description

Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.

Most common symptoms of SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY

Seizures
Global developmental delay
Blindness
Abnormality of skin pigmentation
Tetraplegia

More info about SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY

SOURCES: OMIM ORPHANET

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3

Alternate names

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3 Is also known as proc deficiency, autosomal dominant, protein c deficiency, autosomal dominant

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.

Most common symptoms of THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3

Seizures
Pain
Abnormality of the nervous system
Abnormality of the eye
Stroke

More info about THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3

SOURCES: OMIM

Search interest in PROC

Potential gene panels for PROC gene

PROC Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the PROC gene.

PROC gene related symptoms and diseases

Top 5 symptoms and clinical features associated to PROC gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to PROC gene

SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY

Alternate names

Description

Most common symptoms of SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3

Alternate names

Description

Most common symptoms of THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3

Search interest in PROC

Potential gene panels for PROC gene

PROC Sequencing Panel

PROC Deletion/duplication analysis Panel

PROC. Complete sequencing Panel

Sequencing of PROC gene (Protein C deficiency) Panel

Protein C deficiency (sequence analysis of PROC gene) Panel

Thrombophilia due to activated protein C resistance Panel

Protein C deficiency (deletion/duplication analysis on PROC gene) Panel

Protein C deficiency (deletion/duplication analysis on PROC gene) Panel

Thrombophilia, hereditary, due to protein c deficiency, autosomal dominant Panel

Protein C Deficiency via PROC Gene Sequencing with CNV Detection Panel

PROC gene analysis Panel

Protein C deficiency Panel

Single gene testing PROC Panel

Protein C Deficiency (PROC) Panel

Protein C deficiency, PROC sequencing Panel

aCGH Deletion/Duplication Analysis Panel

Protein C deficiency Panel

Invitae Protein C Deficiency Test Panel

Invitae Hereditary Thrombophilia Panel Panel

Thrombophilia due to protein C deficiency: PROC gene sequence analysis Panel

Thrombophilia due to protein C deficiency: PROC gene deletion/duplication (MLPA) analysis Panel

PROC Panel

Bleeding Disorder/Coagulopathy Panel Panel

Comprehensive Hematology Panel Panel

Hereditary thrombophilia due to congenital protein C deficiency Panel

CONGENITAL PROTEIN C DEFICIENCY Panel

Congenital Protein C Deficiency, Sequencing PROC Gene Panel

Thrombophilia, hereditary, due to protein C deficiency Panel

Phosphorus Female Infertility Panel Panel