National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Congenital erythropoietic porphyria

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Other Names:
Porphyria, congenital erythropoietic; CEP; Günther disease; Porphyria, congenital erythropoietic; CEP; Günther disease; Uroporphyrinogen III synthase, deficiency of; UROS deficiency; Congenital porphyria See More
Categories:
This disease is grouped under:
Congenital erythropoietic porphyria (CEP) is the rarest type of porphyria and is commonly seen in infancy.[1]  It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands.[2][3] Photosensitivity and infection may cause the loss of fingers and facial features.[1] Symptoms of CEP range from mild to severe and may include excessive hair growth throughout the body (hypertrichosis), reddish discoloration of the teeth, anemia, and reddish-colored urine.[4] In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow.[3][4] This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms.[3] Inheritance is autosomal recessive. It is caused by mutations in the UROS gene.[3] Treatment for CEP may include a bone marrow transplant and hematopoietic stem cell cord blood transplantation.[2][1] Blood transfusions or spleen removal may also reduce the amount of porphyrin produced by the bone marrow. Affected people must avoid sunlight exposure.[1]
Last updated: 3/22/2017

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.

Showing of 40 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters
[ more ] 		0008066
Abnormal circulating porphyrin concentration 0010472
Abnormal urinary color
Abnormal urinary colour
Abnormal urine color
[ more ] 		0012086
Abnormality of the foot
Abnormal feet morphology
Abnormality of the feet
Foot deformities
Foot deformity
[ more ] 		0001760
Abnormality of the hand
Abnormal hands
Hand anomalies
Hand deformities
[ more ] 		0001155
Atypical scarring of skin
Atypical scarring
0000987
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] 		0000992
Hemolytic anemia 0001878
Hypertrichosis 0000998
Recurrent skin infections
Skin infections, recurrent
0001581
Splenomegaly
Increased spleen size
0001744
30%-79% of people have these symptoms
Immunodeficiency
Decreased immune function
0002721
Osteopenia 0000938
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
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
Blepharitis
Inflammation of eyelids
0000498
Ectropion
Eyelid turned out
0000656
Keratoconjunctivitis 0001096
Nonimmune hydrops fetalis 0001790
Recurrent corneal erosions
Recurrent breakdown of clear protective layer of eye
0000495
Thickened skin
Thick skin
0001072
Thrombocytopenia
Low platelet count
0001873
Percent of people who have these symptoms is not available through HPO
Absent eyebrow
Failure of development of eyebrows
0002223
Alopecia
Hair loss
0001596
Autosomal recessive inheritance 0000007
Cholelithiasis
Gallstones
0001081
Congenital onset
Symptoms present at birth
0003577
Conjunctivitis
Pink eye
0000509
Corneal scarring 0000559
Erythrodontia 0030756
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Hypopigmentation of the skin
Patchy lightened skin
0001010
Joint contracture of the hand 0009473
Loss of eyelashes
Eyelashes fell out
Missing eyelashes
[ more ] 		0011457
Osteolysis
Breakdown of bone
0002797
Pathologic fracture
Spontaneous fracture
0002756
Pink urine 0032001
Scleroderma 0100324
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Vertebral compression fractures
Compression fracture
0002953
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Last updated: 7/1/2020

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

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.

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

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.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis can include hepatoerythropioetic porphyria (see this term).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Congenital erythropoietic porphyria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • The Porphyrias Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Porphyrias Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

    For more information on the registry see: https://www.rarediseasesnetwork.org/cms/porphyrias/registry

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

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.

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

  • Genetics Home Reference (GHR) contains information on Congenital erythropoietic porphyria. This website is maintained by the National Library of Medicine.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Congenital erythropoietic porphyria. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Congenital Erythropoietic Porphyria (CEP). American Porphyria Foundation. 2016; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/CEP.
  2. Congenital Erythropoietic Porphyria. British Skin Foundation. http://www.britishskinfoundation.org.uk/SkinInformation/AtoZofSkindisease/CongenitalErythropoieticPorphyria.aspx.
  3. Porphyria, Congenital Erythropoietic. Online Mendelian Inheritance in Man (OMIM). 2016; http://omim.org/entry/263700.
  4. Hebel JL & Elston DM. Congenital Erythropoietic Porphyria. Medscape Reference. 2016; http://emedicine.medscape.com/article/1103274-overview#showall.