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Disease Profile
Limited systemic sclerosis
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
M34.0
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)
Systemic sclerosis sine scleroderma; Progressive systemic sclerosis sine scleroderma; Scleroderma, sine
Categories
Heart Diseases; Kidney and Urinary Diseases; Lung Diseases;
Summary
Limited systemic sclerosis (also known as sine scleroderma) is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar
When fibrosis affects internal organs, it can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys. Internal organ involvement may be signaled by heartburn, difficulty swallowing (
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
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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/ -
Scleroderma Society of Ontario
41 King William Street, Suite 202
Hamilton, ON, L8R 1A2 Canada
Toll-free: 1-888-776-7776 (Helpline)
Telephone: +1-905-544-0343
E-mail: [email protected]
Website: https://www.sclerodermaontario.ca/
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
- 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 Limited systemic sclerosis. This website is maintained by the National Library of Medicine.
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
- 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.
- 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 Limited systemic sclerosis. 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
- Systemic scleroderma. Genetics Home Reference (GHR). 2015; https://ghr.nlm.nih.gov/condition/systemic-scleroderma.
- Hachulla E. Limited systemic sclerosis. Orphanet. July 2010; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=18907.
- Kucharz EJ, Kopec-Medrek M.. Systemic sclerosis sine scleroderma.. Adv Clin Exp Med. 2017 Aug; 26(5):875-880. https://www.advances.umed.wroc.pl/pdf/2017/26/5/875.pdf.
- Handout on Health: Scleroderma. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). August 2016; https://www.niams.nih.gov/Health_Info/Scleroderma/default.asp.