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Disease Profile

Congenital erythropoietic porphyria

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

All ages

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ICD-10

E80.0

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)

Porphyria, congenital erythropoietic; CEP; Günther disease;

Categories

Blood Diseases; Congenital and Genetic Diseases; Kidney and Urinary Diseases;

Summary

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]

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
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters

[ more ]

0008066
Abnormal circulating porphyrin concentration
0010472
Abnormal foot morphology
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity

[ more ]

0001760
Abnormal urinary color
Abnormal urinary colour
Abnormal urine color

[ more ]

0012086
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

Treatment

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.

    Organizations

    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

          • 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.

              References

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