Rare Endocrinology News

Disease Profile

Reynolds syndrome

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.

Unknown

US Estimated

Europe Estimated

Age of onset

Adult

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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.

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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)

Primary biliary cirrhosis, scleroderma, Raynaud disease, and telangiectasia

Categories

Blood Diseases; Digestive Diseases; Kidney and Urinary Diseases;

Summary

Reynolds syndrome is an autoimmune disease characterized by the co-occurrence of primary biliary cholangitis (PBC) and limited cutaneous systemic sclerosis (LCSS).[1][2] The signs and symptoms of Reynolds syndrome therefore include those of both PBC and LCSS. People with PBC may have symptoms such as tiredness (fatigue) and itchy skin (pruritus), as well as an enlarged liver (hepatomegaly). Signs and symptoms of LCSS may include calcium deposits in the skin, tissues, and organs (calcinosis); sores on the fingers and toes (digital ulcers); facial telangiectasias; Raynaud's phenomenon; esophageal dysfunction (such as acid reflux); and sclerodactyly (tightening of the skin on the fingers and toes).[2] Reynolds syndrome typically occurs sporadically, affecting only one person in a family.[2] Treatment aims to improve the signs and symptoms associated with each disease individually and may involve ursodeoxycholic acid for PBC to slow the progression of liver disease and various medications for the wide variety of possible symptoms of LCSS.[2]

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
Arthritis
Joint inflammation
0001369
Dysphagia
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
Jaundice
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
Autosomal dominant inheritance
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.

    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

      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

          References

          1. 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.
          2. Reynolds syndrome. Orphanet. November, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=779.