Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
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.
Genes related to Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
- PROC
Clinical Features
Top most frequent phenotypes and symptoms related to Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
- Seizures
- Global developmental delay
- Blindness
- Abnormality of skin pigmentation
- Tetraplegia
- Spastic tetraplegia
- Thin skin
- Purpura
- Cerebral palsy
- Venous thrombosis
And another 17 symptoms. If you need more information about this disease we can help you.
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
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.
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.Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency 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
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY BRODY MYOPATHY HEREDITARY COPROPORPHYRIA GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B