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 adipose tissue||90%|
|Abnormality of the fingernails||90%|
|Abnormality of the genital system||90%|
|Delayed eruption of teeth||90%|
|Prematurely aged appearance||90%|
|Reduced number of teeth||90%|
|Short distal phalanx of finger||90%|
|Abnormality of skin pigmentation||50%|
|Abnormality of the clavicle||50%|
|Abnormality of the fontanelles or cranial sutures||50%|
|Abnormality of the hip bone||50%|
|Abnormality of the voice||50%|
|Convex nasal ridge||50%|
|Coronary artery disease||50%|
|External ear malformation||50%|
|Lack of skin elasticity||50%|
|Reduced bone mineral density||50%|
|Thin vermilion border||50%|
|Absence of subcutaneous fat||-|
|Autosomal dominant inheritance||-|
|Congestive heart failure||-|
|obsolete Generalized osteoporosis with pathologic fractures||-|
|Premature coronary artery disease||-|
The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.
Although there is currently no cure for progeria, research involving treatments is ongoing and scientists have been making much progress. The results of a recently published phase II clinical trial provided preliminary evidence that lonafarnib, a farnesyltransferase inhibitor, may improve cardiovascular status, bone structure, and audiological (hearing) status in affected children. A free, full-text version of this study is available on PubMed and can be viewed by clicking here.
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.
Gordon Research Conference – Intermediate Filaments
Saturday, June 14, 2014 -
Friday, June 20, 2014
Location: Mount Snow Resort, West Dover, VT
The 2014 GRC-Intermediate Filaments will include short talks, discussions, and poster presentations from the leaders in the field. It will provides several functional perspectives with an emphasis on the paradigm shifting notion that IFs are not only structural proteins but also play essential roles as signaling organizers and buffers of cellular stress, which contribute to number of disease pathologies. There will be robust discussions on how mutations in the IF genes encoding these IF proteins are responsible for rare diseases, such as epidermolysis bullosa simplex (EBS), but extending into the entire list of rare diseases outlined above. Discussions will be focused on how cell biology and physiology efforts are providing unique therapeutic approaches to the highly complex disorders, such as those caused by lamin A/C gene mutations, which are involved in Progeria.
Contact: Carl C. Baker, M.D., Ph.D.,(301) 594-5017,firstname.lastname@example.org
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
PRF 10th Anniversary Workshop on Progeria-“From Bench to Bedside in a Decade”
Sunday, April 11, 2010 -
Tuesday, April 13, 2010
Location: Seaport Hotel and World Trade Center, Boston, MA
Description: The goal of the 2010 Progeria Research Foundation (PRF) Workshop was to provide a platform to assemble clinicians and scientists, integrate their findings, and facilitate new directions within both clinical and basic science research. The main focus was to bring basic and clinical scientists together to promote collaboration and progress in progeria research. It is the only meeting of its kind and is essential for promoting a bench to bedside view of the field and productive discussion between basic and translational scientists regarding not only progeria but also aging and cardiovascular disease (CVD). Importantly, it provided a forum for examining simultaneously in vitro studies, mouse model studies, and as yet unpublished human treatment trial outcomes. Progeria research is at a pinnacle, with more peer-reviewed papers emerging than ever before, with three clinical trials in progress, and with a plethora of new data examining the links between Hutchinson-Gilford progeria syndrome (HGPS), aging, and CVD. The 2010 PRF workshop provided an exciting forum for sharing data and ideas about how to continue pushing toward a greater understanding of how these fields relate to one another.
Contact: Dr. Pothur Srinivas301email@example.com
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
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