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Disease Profile

Hepatoerythropoietic porphyria

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.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset





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.


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.


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)



Congenital and Genetic Diseases; Kidney and Urinary Diseases; Metabolic disorders;


Hepatoerythropoietic porphyria (HEP) affects the skin and is due to a build-up of damaging chemicals in the body. Symptoms usually begin in infancy and include extreme sun sensitivity, extra body hair, discolored teeth, and anemia. Over time, people with HEP may lose skin, bone or develop scarring in sun-exposed areas. HEP is caused by a UROD gene that is not working correctly and is inherited in an autosomal recessive pattern. HEP is diagnosed based on the symptoms, clinical exam, laboratory testing, and confirmed by genetic testing. Treatment of HEP is focused on avoiding sun exposure and managing the symptoms.[1][2][3]


The following list includes the most common signs and symptoms in people with hepatoerythropoietic porphyria (HEP). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Signs and symptoms of hepatoerythropoietic porphyria may include:[1][4]

  • Extreme sensitivity to the sun (photosensitivity)
  • Blistering in sun exposed areas
  • Scarring
  • Discolored teeth and urine
  • Extra body hair (hypertrichosis)
  • Anemia

Symptoms of HEP usually begin in infancy or early childhood, although in a few cases symptoms don't appear until adulthood. In some people, photosensitivity leads to scarring and loss of skin and bone. People with HEP may also be more likely to get bacterial infections.[1][2][4]

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:
80%-99% of people have these symptoms
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity

[ more ]

Hemolytic anemia
Thin skin
Percent of people who have these symptoms is not available through HPO
Hair loss
Autosomal dominant inheritance
Autosomal recessive inheritance
Facial hypertrichosis
Increased facial hair growth
Fragile skin
Skin fragility
Hyperpigmentation in sun-exposed areas
Increased pigmentation in sun-exposed areas
Detachment of nail


Hepatoerythropoietic porphyria occurs when the UROD gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly, or sometimes not at all.[1]


Hepatoerythropoietic porphyria is diagnosed based on the symptoms, a clinical exam, and genetic testing. In addition, specific laboratory tests may be done to look for abnormal levels of certain chemicals in the blood and urine.[1][2]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.


    Treatment for hepatoerythropoietic porphyria is focused on managing the symptoms. People with HEP are advised to avoid sun exposure to prevent blistering and scarring.[1][2][3]

    Specialists involved in the care of someone with hepatoerythropoietic porphyria may include:

    • Hematologist
    • Dermatologist
    • Liver specialist

    Management Guidelines

    • The American Porphyria Foundation offers a document that includes information about porphyria, types, testing, and treatment with Panhematin®. Click the "document" link above to view these guidelines.


      Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

      Organizations Supporting this Disease

        Social Networking Websites

        • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

          Organizations Providing General Support

            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.

            Where to Start

              In-Depth Information

              • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
              • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
              • 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.
              • PubMed is a searchable database of medical literature and lists journal articles that discuss Hepatoerythropoietic porphyria. Click on the link to view a sample search on this topic.


                1. Liu LU, Phillips J, Bonkovsky H, Porphyrias Consortium of the Rare Diseases Clinical Research Network. Hepatoerythropoietic Porphyria. GeneReviews. Updated Dec 16, 2016; https://www.ncbi.nlm.nih.gov/books/NBK169003.
                2. Ramanujam VS, Anderson KE. Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. Curr Protoc Hum Genet. 2015; 86:17.20.1-17.20.26. https://pubmed.ncbi.nlm.nih.gov/26132003.
                3. Singal AK, Parker C, Bowden C, Thapar M, Liu L, McGuire BM. Liver transplantation in the management of porphyria. Hepatology. 2014; 60(3):1082-1089. https://pubmed.ncbi.nlm.nih.gov/24700519.
                4. Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, et al. Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. Arch Dermatol. 2010; 146(5):529-533. https://pubmed.ncbi.nlm.nih.gov/20479301.

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