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Disease Profile
Reynolds syndrome
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.
Unknown
Age of onset
Adult
ICD-10
K74.3 L94.0
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)
Primary biliary cirrhosis, scleroderma, Raynaud disease, and telangiectasia
Categories
Blood Diseases; Digestive Diseases; Kidney and Urinary Diseases;
Summary
Reynolds
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 | ||
Abnormality of the gastric mucosa |
Abnormality of the mucous membrane layer of stomach
|
0004295 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Pruritus |
Itching
Itchy skin
Skin itching
[ more ] |
0000989 |
30%-79% of people have these symptoms | ||
Joint inflammation
|
0001369 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Fever | 0001945 | |
Irregular hyperpigmentation | 0007400 | |
Keratoconjunctivitis sicca |
Dry eyes
|
0001097 |
Mucosal telangiectasiae | 0100579 | |
Sclerodactyly | 0011838 | |
Skin rash | 0000988 | |
Skin ulcer |
Open skin sore
|
0200042 |
Telangiectasia of the skin | 0100585 | |
Xerostomia |
Dry mouth
Dry mouth syndrome
Reduced salivation
[ more ] |
0000217 |
5%-29% of people have these symptoms | ||
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Encephalitis |
Brain inflammation
|
0002383 |
Yellow skin
Yellowing of the skin
[ more ] |
0000952 | |
Lichenification | 0100725 | |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Biliary cirrhosis | 0002613 | |
Calcinosis |
Calcium buildup in soft tissues of body
|
0003761 |
Calcinosis cutis | 0025520 | |
Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ] |
0003155 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Hyperbilirubinemia |
High blood bilirubin levels
|
0002904 |
Lip telangiectasia | 0000214 | |
Palmar telangiectasia | 0100869 | |
Raynaud phenomenon | 0030880 | |
Scleroderma | 0100324 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Steatorrhea |
Fat in feces
|
0002570 |
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
|
---|
The association with primary sclerosing cholangitis and SSc is extremely rare. Cholestasis in SSc patients may also reflect liver congestion due to right-sided heart failure in cases with severe pulmonary hypertension. Medications (antibiotics, anabolic steroids, birth control pills, chlorpromazine, cimetidine, estradiol) may cause cholestasis similar to that of PBC.
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
-
International Scleroderma Network (ISN)
7455 France Ave So #266
Edina, MN 55435-4702
Toll-free: 1-800-564-7099
Telephone: +1-952-831-3091
E-mail: [email protected]
Website: https://www.sclero.org/index.html -
Scleroderma & Raynaud's UK (SRUK)
18-20 Bride Lane
London, EC4Y 8EE United Kingdom
Toll-free: 0800 311 2756 (Helpline)
Telephone: 020 7000 1925 (Office)
E-mail: [email protected]
Website: https://www.sruk.co.uk -
Scleroderma Foundation
300 Rosewood Drive, Suite 105
Danvers, MA 01923
Toll-free: 1-800-722-4673 (HOPE)
Telephone: +1-978-463-5843
Fax: +1-978-463-5809
E-mail: [email protected]
Website: https://www.scleroderma.org -
Scleroderma Research Foundation
220 Montgomery Street, Suite 484
San Francisco, CA 94104
Telephone: +1-415-834-9444
E-mail: [email protected]
Website: https://srfcure.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.
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 Reynolds syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Select volumes of the Scleroderma Care and Research Journal can be viewed by visiting the Scleroderma Clinical Trials Consortium Web site. Click on the link above to learn more.
References
- Kiyani A, Ursu S. Coexistent Primary Biliary Cholangitis with CREST Syndrome (Reynolds Syndrome). Am J Med. November, 2017; 130(11):e501-e502. https://www.ncbi.nlm.nih.gov/pubmed/28602872.
- Reynolds syndrome. Orphanet. November, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=779.