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 the skin||-|
|Abnormality of the sternum||-|
|Angioid streaks of the retina||-|
|Autosomal dominant inheritance||-|
|Calcification of falx cerebri||-|
|High, narrow palate||-|
|Medial calcification of large arteries||-|
|Mitral valve prolapse||-|
|Premature occlusive vascular disease||-|
|Reduced visual acuity||-|
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.
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.
The 11th Annual North American Genetic Analysis of ABC Transporters Workshop
Wednesday, September 24, 2014 -
Thursday, September 25, 2014
Location: NCI-Frederick, Frederick, MD
Description: This workshop features presentations from graduate students, post-docs., and senior investigators studying the role of ATP Cassette Binding Proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area are presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.
Contact: Dr. Michael Dean,(301) 846-5931,email@example.com
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
Pseudoxanthoma Elasticum Research 2010 Conference
Monday, November 29, 2010 -
Tuesday, November 30, 2010
Location: North Bethesda Marriott , Bethesda, MD
Description: The specific aims of this conference were to review the current status of basic and translational research on pseudoxanthoma elasticum (PXE), determine the most relevant biomarkers and clinical endpoints in preparation for clinical trials, and evaluate a number of hypothetical therapeutic interventions including vitamin K therapy and anti-angiogenesis therapies. Additionally, meeting participants reviewed the understanding of the clinical manifestations of PXE in order to come to consensus on diagnostic criteria. The results of the meeting will be used to plan for future research and translational applications.
Contact: Hung Tseng, Ph.D., (301) 496-0810, firstname.lastname@example.org
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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