Cardiomyopathy hypogonadism collagenoma syndrome
ORDR lists rare diseases for information purposes only and does not guarantee that a condition is rare. Read more
The
links on this page may take you to sites outside of the NIH. (See Disclaimer for details.)
Cardiomyopathy hypogonadism collagenoma syndrome is a condition that primarily affects the heart, skin, and testes in males. Affected individuals may have the following heart problems: tricuspid regurgitation, cardiomyopathy (especially of the right ventricle), atrial fibrillation, and chronic congestive heart failure. People with this condition have skin abnormalities in which collagen predominates (collagenomas). Males with this condition may have testicular failure, which is is the inability of the testicles to produce sperm or male hormones. Cardiomyopathy hypogonadism collagenoma syndrome is likely inherited in an autosomal dominant pattern.[1]
For more information about
Cardiomyopathy hypogonadism collagenoma syndrome
click on the boxes below:
|
More Detailed Information (Found 2 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer
-
General
-
The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Cardiomyopathy hypogonadism collagenoma syndrome. Click on the link to go to OMIM and review these resources.
-
PubMed is a searchable database of medical literature and lists journal articles that discuss Cardiomyopathy hypogonadism collagenoma syndrome. Click on the link to view a sample search on this topic.
|
|
Services (Found 2 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer
-
-
Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.
-
Parent Resources
-
The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
|
|
Scientific Conferences (Found 3 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer
-
Past Conferences
-
RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
-
VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
Location: Palais Rouge Convention Center, Palermo, Buenos Aires Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
-
Fifth International Conference on Pediatric Mechanical Circulatory Support Systems and Pediatric Cardiopulmonary Perfusion , May 28, 2009 - May 30, 2009
Location: Hilton Anatole, Dallas, TX Description: The main objective of this conference was to focus on the current problems associated with pediatric cardiac patients during and after acute or chronic cardiac support. At this conference, we brought together many distinguished physicians and scientists to define precisely the current problems and to suggest solutions with novel approaches.
|
|
Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials. Disclaimer
-
-
NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
-
Patient Registry
-
ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.
|