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Disease Profile
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.
1-9 / 100 000
Age of onset
All ages
ICD-10
E80.0 E80.1 E80.2
Inheritance
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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
Summary
Porphyrias are a group of blood conditions caused by a lack of an
Most porphyrias are
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 circulating porphyrin concentration | 0010472 | |
Abnormal urinary color |
Abnormal urinary colour
Abnormal urine color
[ more ] |
0012086 |
30%-79% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Abnormal blistering of the skin |
Blistering, generalized
Blisters
[ more ] |
0008066 |
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] |
0001000 |
Anorexia | 0002039 | |
Chest pain | 0100749 | |
Constipation | 0002019 | |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] |
0000992 |
Diarrhea |
Watery stool
|
0002014 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
0000822 | ||
Nausea and vomiting | 0002017 | |
Pruritus |
Itching
Itchy skin
Skin itching
[ more ] |
0000989 |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
5%-29% of people have these symptoms | ||
Cerebral palsy | 0100021 | |
Dupuytren |
0005679 | |
Fever | 0001945 | |
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 |
Muscle weakness |
Muscular weakness
|
0001324 |
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 |
0001250 |
Diagnosis
If your doctor suspects porphyria, he or she may recommend the following tests:[4][5]
- Urine test. If you have a form of acute porphyria, a urine test may reveal elevated levels of two substances: porphobilinogen and delta-aminolevulinic acids, as well as other porphyrins.
- Blood test. If you have a form of cutaneous porphyria, a blood test may show an elevation in the level of porphyrins in the liquid part of your blood (plasma).
Stool sample test. Analysis of a stool sample may reveal elevated levels of some porphyrins that may not be detected in urine samples. This test may help your doctor determine your specific type of porphyria.
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
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
Related diseases
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 diagnoses include, when patients present with acute attacks, Guillain-Barré syndrome (see this term) and all causes of acute abdominal pain, and, when patients present with cutaneous signs, photodermatoses.
Visit the Orphanet disease page for more information.
|
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
-
American Porphyria Foundation
4915 St. Elmo Avenue
Suite 105
Bethesda, MD 20814
Toll-free: 1-866-273-3635
Telephone: +1-301-347-7166
Fax: +1-301-312-8719
E-mail: [email protected]
Website: https://porphyriafoundation.org/
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).
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
- MayoClinic.com provides information about porphyria. Click on the link to access this information.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Porphyria. This website is maintained by the National Library of Medicine.
- The National Digestive Diseases Information Clearinghouse (NIDDK) offers information on this condition. Click on the link to view information on this topic.
- 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.
- 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.
- The 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 Porphyria. Click on the link to view a sample search on this topic.
References
- Porphyria. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). February 26, 2014; https://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/porphyria/Pages/facts.aspx. Accessed 5/26/2015.
- Porphyria. MedlinePlus. September 24, 2014; https://www.nlm.nih.gov/medlineplus/porphyria.html. Accessed 5/26/2015.
- Porphyria. Genetics Home Reference. July 2009; https://ghr.nlm.nih.gov/condition=porphyria. Accessed 5/26/2015.
- Porphyria. MayoClinic.com. May 20, 2014; https://www.mayoclinic.com/health/porphyria/DS00955/METHOD=print. Accessed 11/4/2016.
- Tests for Porphyria diagnosis. American Porphyria Foundation. https://www.porphyriafoundation.com/testing-and-treatment/testing-for-porphyria/tests-for-porphyria-diagnosis. Accessed 11/4/2016.
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