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Disease Profile
Progeria
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Infancy
ICD-10
E34.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Hutchinson Gilford progeria syndrome; Hutchinson Gilford syndrome; HGPS
Categories
Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;
Summary
Progeria leads to extreme premature aging and affects many different body systems. The symptoms begin within a year of life with poor growth and weight gain. Children with progeria have a characteristic facial appearance with a large head, small mouth and chin, narrow nose and large eyes. Other symptoms include baldness, loss of fat under the skin, and dental and joint abnormalities. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive heart disease. Intelligence is typically normal. Most people with progeria die in their teens from a heart attack or stroke. Progeria is caused by a genetic variant in the LMNA
Symptoms
The following list includes the most common signs and symptoms in people with progeria. These features may be different from person to person. Some people may have more symptoms than others, and they can range from mild to severe. This list does not include every symptom that has been described in the condition.
Signs and symptoms may include: [1][3][4]
- Poor growth (failure to thrive)
- Large head size relative to face
- Loss of fat under the skin
- Delayed eruption of teeth and other dental abnormalities
- Baldness (alopecia)
- Stiff joints
- Thin, weak bones (osteoporosis)
- Progressive heart disease
- Normal intelligence
In the first years of life, growth delay, loss of fat, skin changes, and baldness may occur. Children with progeria have many symptoms of aging typically seen in older adults. These can include joint stiffness, loss of teeth, osteoporosis, hearing loss, and heart disease. Most people with this condition die in their teens from a heart attack or stroke. [1][4]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Absence of subcutaneous fat |
Absent fat below the skin
Lack of fatty tissue below the skin
[ more ] |
0007485 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
| 30%-79% of people have these symptoms | ||
| Alopecia totalis | 0007418 | |
| Atherosclerosis |
Narrowing and hardening of arteries
|
0002621 |
| 5%-29% of people have these symptoms | ||
| Absent eyebrow |
Failure of development of eyebrows
|
0002223 |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
Diagnosis
Treatment
Specialists involved in the care of someone with progeria may include:[1]
- Neurologist
- Dermatologist
- Dentist
- Orthopedist
- Cardiologist
- Nutritionist
- Otolaryngologist
- Medical geneticist
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Lonafarnib(Brand name: Zokinvy) Manufactured by Eiger Pharmaceuticals
FDA-approved indication: ZOKINVY is a farnesyltransferase inhibitor indicated in patients 12 months of age and older with a body surface area of 0.39 m2 and above (1): • To reduce risk of mortality in Hutchinson-Gilford Progeria Syndrome • For treatment of processing-deficient Progeroid Laminopathies with either: Heterozygous LMNA mutation with progerin-like protein accumulation Homozygous or compound heterozygous ZMPSTE24 mutations
National Library of Medicine Drug Information Portal
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Progeria Research Foundation, Inc.
P.O. Box 3453
Peabody, MA 01961-3453
Telephone: 978-535-2594
Fax: 978-535-5849
E-mail: [email protected]
Website: https://www.progeriaresearch.org
Learn more
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Progeria. This website is maintained by the National Library of Medicine.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Progeria. Click on the link to view a sample search on this topic.
References
- Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. GeneReviews. Updated Jan 17, 2019; https://www.ncbi.nlm.nih.gov/books/NBK1121/.
- Gordon LB, Shappell H, Massaro J, D'Agostino RB Sr, Brazier J, Campbell SE, Kleinman ME, Kieran MW.. Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome.. JAMA. Apr 24, 2018; 319(16):1687-1695. https://pubmed.ncbi.nlm.nih.gov/29710166/.
- Ahmed MS, Ikram S, Bibi N, Mir A. Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease. Mol Neurobiol. May 2018; 55(5):4417-4427. https://pubmed.ncbi.nlm.nih.gov/28660486/.
- Kreienkamp R, Gonzalo S. Hutchinson-Gilford Progeria Syndrome: Challenges at Bench and Bedside. Subcell Biochem. 2019;91:435-451.. 2019; 91:435-451. https://pubmed.ncbi.nlm.nih.gov/30888661/.
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