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) |
| Abnormal trabecular bone morphology | Very frequent (present in 80%-99% of cases) |
| Absence of pubertal development | Very frequent (present in 80%-99% of cases) |
| Alopecia | Very frequent (present in 80%-99% of cases) |
| Aplastic clavicles | Very frequent (present in 80%-99% of cases) |
| Bilateral coxa valga | Very frequent (present in 80%-99% of cases) |
| Bird-like facies | Very frequent (present in 80%-99% of cases) |
| Craniofacial disproportion | Very frequent (present in 80%-99% of cases) |
| Decreased serum estradiol | Very frequent (present in 80%-99% of cases) |
| Decreased testosterone in males | Very frequent (present in 80%-99% of cases) |
| Delayed eruption of teeth | Very frequent (present in 80%-99% of cases) |
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| High pitched voice | Very frequent (present in 80%-99% of cases) |
| Hyperinsulinemia | Very frequent (present in 80%-99% of cases) |
| Hypogonadotrophic hypogonadism | Very frequent (present in 80%-99% of cases) |
| Hypoplastic facial bones | Very frequent (present in 80%-99% of cases) |
| Infertility | Very frequent (present in 80%-99% of cases) |
| Joint stiffness | Very frequent (present in 80%-99% of cases) |
| Lipoatrophy | Very frequent (present in 80%-99% of cases) |
| Micrognathia | Very frequent (present in 80%-99% of cases) |
| Multiple joint contractures | Very frequent (present in 80%-99% of cases) |
| Narrow mouth | Very frequent (present in 80%-99% of cases) |
| Nasal speech | Very frequent (present in 80%-99% of cases) |
| Osteoporosis | Very frequent (present in 80%-99% of cases) |
| Prominent forehead | Very frequent (present in 80%-99% of cases) |
| Prominent scalp veins | Very frequent (present in 80%-99% of cases) |
| Proptosis | Very frequent (present in 80%-99% of cases) |
| Sensorineural hearing impairment | Very frequent (present in 80%-99% of cases) |
| Short clavicles | Very frequent (present in 80%-99% of cases) |
| Sparse hair | Very frequent (present in 80%-99% of cases) |
| Thin bony cortex | Very frequent (present in 80%-99% of cases) |
| Thrombocytosis | Very frequent (present in 80%-99% of cases) |
| Absent eyelashes | Frequent (present in 30%-79% of cases) |
| Aminoaciduria | Frequent (present in 30%-79% of cases) |
| Angina pectoris | Frequent (present in 30%-79% of cases) |
| Aplasia/Hypoplasia of the earlobes | Frequent (present in 30%-79% of cases) |
| Arteriosclerosis of small cerebral arteries | Frequent (present in 30%-79% of cases) |
| Broad-based gait | Frequent (present in 30%-79% of cases) |
| Cyanosis | Frequent (present in 30%-79% of cases) |
| Hepatic steatosis | Frequent (present in 30%-79% of cases) |
| Hypermetropia | Frequent (present in 30%-79% of cases) |
| Hyperphosphatemia | Frequent (present in 30%-79% of cases) |
| Hypertension | Frequent (present in 30%-79% of cases) |
| Hypodontia | Frequent (present in 30%-79% of cases) |
| Hypohidrosis | Frequent (present in 30%-79% of cases) |
| Hypoplastic nipples | Frequent (present in 30%-79% of cases) |
| Hypotrichosis | Frequent (present in 30%-79% of cases) |
| Intermittent claudication | Frequent (present in 30%-79% of cases) |
| Keratoconjunctivitis sicca | Frequent (present in 30%-79% of cases) |
| Kyphosis | Frequent (present in 30%-79% of cases) |
| Lack of skin elasticity | Frequent (present in 30%-79% of cases) |
| Macrotia | Frequent (present in 30%-79% of cases) |
| Metaphyseal widening | Frequent (present in 30%-79% of cases) |
| Nail dysplasia | Frequent (present in 30%-79% of cases) |
| Narrow nasal tip | Frequent (present in 30%-79% of cases) |
| Osteoarthritis | Frequent (present in 30%-79% of cases) |
| Ovoid vertebral bodies | Frequent (present in 30%-79% of cases) |
| Premature coronary artery disease | Frequent (present in 30%-79% of cases) |
| Premature graying of hair | Frequent (present in 30%-79% of cases) |
| Prolonged prothrombin time | Frequent (present in 30%-79% of cases) |
| Reticulated skin pigmentation | Frequent (present in 30%-79% of cases) |
| Sparse and thin eyebrow | Frequent (present in 30%-79% of cases) |
| Tapering pointed ends of distal finger phalanges | Frequent (present in 30%-79% of cases) |
| Thin nail | Frequent (present in 30%-79% of cases) |
| Thin ribs | Frequent (present in 30%-79% of cases) |
| Thin skin | Frequent (present in 30%-79% of cases) |
| Thin vermilion border | Frequent (present in 30%-79% of cases) |
| Widely patent fontanelles and sutures | Frequent (present in 30%-79% of cases) |
| Acanthosis nigricans | Occasional (present in 5%-29% of cases) |
| Carotid artery stenosis | Occasional (present in 5%-29% of cases) |
| Dental crowding | Occasional (present in 5%-29% of cases) |
| Hip dislocation | Occasional (present in 5%-29% of cases) |
| Hypertriglyceridemia | Occasional (present in 5%-29% of cases) |
| Insulin-resistant diabetes mellitus at puberty | Occasional (present in 5%-29% of cases) |
| Osteopenia | Occasional (present in 5%-29% of cases) |
| Prolonged QT interval | Occasional (present in 5%-29% of cases) |
| Regional abnormality of skin | Occasional (present in 5%-29% of cases) |
| Sinus tachycardia | Occasional (present in 5%-29% of cases) |
| Transient ischemic attack | Occasional (present in 5%-29% of cases) |
| Delayed puberty | Very rare (present in 1%-4% of cases) |
| Left ventricular hypertrophy | Very rare (present in 1%-4% of cases) |
| Absence of subcutaneous fat | - |
| Autosomal dominant inheritance | - |
| Autosomal recessive inheritance | - |
| Congestive heart failure | - |
| Generalized osteoporosis | - |
| Growth delay | - |
| Malar flattening | - |
| Midface retrusion | - |
| Myocardial infarction | - |
| Osteolysis | - |
| Precocious atherosclerosis | - |
Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome.[1]
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.[1]
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.[5] A free, full-text version of this study is available on PubMed and can be viewed by clicking here.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Progeria Research Foundation Seeks Proposals for Next Funding Round
October 5, 2016
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016
Progeria Research Foundation Seeks Proposals for Research on Hutchinson-Gilford Progeria Syndrome (HGPS, or Progeria)
September 8, 2014
Gordon Research Conference – Intermediate Filaments
Saturday, June 14, 2014 -
Friday, June 20, 2014
Location: Mount Snow Resort,
West Dover,
VT
Description:
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,bakerc@mail.nih.gov
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 Srinivas301-402-3712srinivap@nhlbi.nih.gov
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
What chromosome is this disorder on? How many people are affected by this disorder? See answer
Where is the gene responsible for Hutchinson-Gilford progeria syndrome located? See answer
