Autosomal recessive protein C deficiency

Title

Other Names:

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; 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; Hereditary thrombophilia due to congenital protein C deficiency; Hereditary thrombophilia due to PC deficiency; Autosomal recessive hereditary thrombophilia due to protein C deficiency; Thrombophilia due to protein C deficiency, autosomal recessive See More

Categories:

Blood Diseases; Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary 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]

Last updated: 6/7/2016

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
30%-79% of people have these symptoms
Purpura		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		0100758
Pulmonary embolism		0002204
Venous insufficiency		0005293
Warfarin-induced skin necrosis		0001038
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Deep venous thrombosis	Blood clot in a deep vein	0002625
Global developmental delay		0001263
Hypercoagulability		0100724
Reduced protein C activity		0005543
Seizures	Seizure	0001250
Superficial thrombophlebitis		0002638
Variable expressivity		0003828
Vitreous hemorrhage		0007902

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Last updated: 6/1/2018

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.

Related Diseases Related Diseases

The following diseases are related to Autosomal recessive protein C deficiency. If you have a question about any of these diseases, you can contact GARD.

Protein C deficiency

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