The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of abdomen morphology||-|
|Autosomal dominant inheritance||-|
|Generalized amyloid deposition||-|
|Lattice corneal dystrophy||-|
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
XIV International Symposium on Amyloidosis
Sunday, April 27, 2014 -
Friday, May 2, 2014
Location: Indianapolis, Indiana
Description: One important goal is to foster interactions between investigators who do not meet regularly outside of this event. Through this conference, experts can share unpublished scientific and clinical information about rare diseases that are hard to treat. A second crucial goal is to stimulate interest in a new generation of investigators by providing generous support for at least 10 junior-level researchers to attend the meeting, giving out awards for the most promising clinical research, the best poster, and the best oral presentation by young investigators, and providing childcare options.
Contact: Rebekah S. Rasooly, Ph.D.(301) email@example.com
Co-funding Institute(s): National Institute of Diabetes and Digestive and Kidney Diseases, Office of Rare Diseases Research
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I am curious of what to expect with this type, and the age of onset of symptoms. See answer