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Disease Profile

Autosomal recessive protein C deficiency

Prevalence
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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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

Autosomal recessive protein C deficiency is an inherited blood clotting disorder characterized by serious protein C deficiency. The disease may be very severe and associated with neonatal purpura fulminans (NPF) or intracranial thromboembolism. It may also be a milder disorder where patients present with clotting (venous thromboembolism) in childhood, adolescence, or adulthood.[1] It is caused by having changes in the PROC gene.[2][1] The inheritance pattern is autosomal recessive. Treatment depends on the severity of the disease and may involve blood thinners, clot-dissolving medicines, or blood transfusions of fresh frozen plasma or highly purified protein C concentrate. In some cases, live donor liver transplantation which cures the disease.[1][3]

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
Autosomal recessive inheritance
0000007
Cerebral palsy
0100021
Deep venous thrombosis
Blood clot in a deep vein
0002625
Global developmental delay
0001263
Hypercoagulability
0100724
Reduced protein C activity
0005543
Seizure
0001250
Superficial thrombophlebitis
0002638
Variable expressivity
0003828
Vitreous hemorrhage
0007902

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

  1. Cuker A, Pollak ES. Protein C Deficiency. Medscape Reference. January 21, 2016; https://emedicine.medscape.com/article/205470-overview#showall.
  2. Protein C deficiency. Genetics Home Reference. May, 2013; https://ghr.nlm.nih.gov/condition/protein-c-deficiency.
  3. Bauer KA. Protein C deficiency. UpToDate. May 11, 2016; https://www.uptodate.com/contents/protein-c-deficiency.