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Disease Profile
Autosomal recessive protein C deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Autosomal recessive thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Severe hereditary thrombophilia due to congenital protein C deficiency;
Categories
Blood Diseases; Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Purpura |
Red or purple spots on the skin
|
0000979 |
| Thin skin | 0000963 | |
| Venous thrombosis |
Blood clot in vein
|
0004936 |
| 5%-29% of people have these symptoms | ||
| Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] |
0001000 |
| Abnormality of the cerebral vasculature |
Abnormality of the cerebral blood vessels
|
0100659 |
| Gangrene |
Death of body tissue due to lack of blood flow or infection
|
0100758 |
| Pulmonary embolism |
Blood clot in artery of lung
|
0002204 |
| Venous insufficiency |
Poorly functioning veins
|
0005293 |
| Warfarin-induced skin necrosis | 0001038 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Cerebral palsy | 0100021 | |
| Deep venous thrombosis |
Blood clot in a deep vein
|
0002625 |
| Global |
0001263 | |
| Hypercoagulability | 0100724 | |
| Reduced |
0005543 | |
| 0001250 | ||
| Superficial thrombophlebitis | 0002638 | |
| 0003828 | ||
| Vitreous hemorrhage | 0007902 | |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
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Conditions with similar signs and symptoms from Orphanet
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Differential diagnoses include other inherited thrombophilias including antithrombin and protein S deficiencies (see these terms).
Visit the Orphanet disease page for more information.
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Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
References
- Cuker A, Pollak ES. Protein C Deficiency. Medscape Reference. January 21, 2016; https://emedicine.medscape.com/article/205470-overview#showall.
- Protein C deficiency. Genetics Home Reference. May, 2013; https://ghr.nlm.nih.gov/condition/protein-c-deficiency.
- Bauer KA. Protein C deficiency. UpToDate. May 11, 2016; https://www.uptodate.com/contents/protein-c-deficiency.