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Disease Profile
Paroxysmal extreme pain disorder
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.
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Age of onset
Infancy
ICD-10
-
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
Other names (AKA)
Familial rectal syndrome; PEPD; PEXPD;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Paroxysmal extreme pain disorder is a form of
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 | ||
0001250 | ||
30%-79% of people have these symptoms | ||
Constipation | 0002019 | |
Percent of people who have these symptoms is not available through HPO | ||
Anal pain |
Rectal pain
|
0500005 |
0000006 | ||
Bradycardia |
Slow heartbeats
|
0001662 |
Flushing | 0031284 | |
Impaired pain sensation |
Decreased pain sensation
|
0007328 |
Lacrimation abnormality |
Abnormality of tear production
|
0000632 |
Mandibular pain |
Lower jaw pain
|
0200025 |
Neonatal onset | 0003623 | |
Ocular pain |
Eye pain
|
0200026 |
Rhinorrhea |
Runny Nose
|
0031417 |
Tachycardia |
Fast heart rate
Heart racing
Racing heart
[ more ] |
0001649 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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
|
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Differential diagnoses include primary erythermalgia and hyperekplexia.
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 Chronic Pain Association (ACPA)
P.O. Box 850
Rocklin, CA 95677-0850
Toll-free: 800-533-3231
Telephone: 916-632-0922
Fax: 916-652-8190
E-mail: [email protected]
Website: https://theacpa.org/ -
The Foundation for Peripheral Neuropathy
485 Half Day Road
Suite 350
Buffalo Grove, IL 60089
Telephone: +1-877-883-9942
Fax: +1-847-883-9960
E-mail: https://www.foundationforpn.org/contact-us/
Website: https://www.foundationforpn.org
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 Paroxysmal extreme pain disorder. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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 Paroxysmal extreme pain disorder. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Fertleman CR, Ferrie CD. What's in a name familial rectal pain syndrome becomes paroxysmal extreme pain disorder J Neurol Neurosurg Psychiatry. 2006 Nov; 77(11):1294-1295.
References
- Paroxysmal extreme pain disorder. Genetics Home Reference (GHR). November 2012; https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder. Accessed 12/3/2015.
- Fertleman C. Paroxysmal extreme pain disorder. Orphanet. March 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=46348. Accessed 12/3/2015.