• Progeria

Disease at a Glance

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. Progeria is caused by a genetic variant in the LMNA gene. This variant usually arises as a new change in the genetic material and is not inherited from a parent. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing.

About Progeria

Many rare diseases have limited information. Currently GARD is able to provide the following information for Progeria:

  • Population Estimate:In the US, there are less than 1,000 with this disease.
  • Symptoms:May start to appear as a Newborn and as an Infant.
  • Experts:GARD is not currently aware of a specialist directory for this condition.
  • Organizations:Organizations specific to this condition are available to help find support. 
  • Categories:Birth DefectSkin DiseaseGenetic Disease
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
Symptoms may start to appear as a Newborn and as an Infant.
This information comes from Orphanet

Symptoms

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:

90 Symptoms

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Medical Term

Absence of subcutaneous fat

Frequency
Uncommon
Very frequent
Very frequent
Always
Description

Lack of subcutaneous adipose tissue.

Lack of subcutaneous adipose tissue.

Synonym

Lack of fatty tissue below the skin

Lack of fatty tissue below the skin

90 Symptoms
This information comes from the Human Phenotype Ontology (HPO)

Causes

Genetic Disease

Progeria is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: ZMPSTE24, LMNA

What is a gene?

Genes are part of our DNA, the basic genetic material found in each of our body's cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins. 

Each gene performs a different job in our cells. Some genes serve as the instructions to make proteins. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes can turn other genes on or off. Others make RNA molecules that are involved in chemical reactions in the body.

Sources to Learn More: What is a gene? (MedlinePlus) ; What's a Gene? (NHGRI) ; What are proteins and what do they do? (MedlinePlus)Genes are part of our DNA, the basic genetic material found in each of our body's cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins. 

Each gene performs a different job in our cells. Some genes serve as the instructions to make proteins. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes can turn other genes on or off. Others make RNA molecules that are involved in chemical reactions in the body.

Sources to Learn More: What is a gene? (MedlinePlus) ; What's a Gene? (NHGRI) ; What are proteins and what do they do? (MedlinePlus)
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Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

Autosomal dominant inheritance

Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.

In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.

Each child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease.Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.

In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.

Each child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease.
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Advocacy and Support Groups

How can a patient organization be helpful?

Patient advocacy and support organizations offer many valuable services and often drive the research and development of treatments for their disease(s). Because these organizations include the life experiences of many different people who have a specific disease, they may best understand the resources needed by those in their community. Although missions of organizations may differ, services may include, but are not limited to:
 

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Latest treatment and research information
  • Lists of specialists or specialty centers
  • Financial aid and travel resources
Please note: GARD provides the names of patient organizations for informational purposes only and not as an endorsement of their services. Please contact the organization directly if you have questions about the information or resources they provide.

What do disease-specific organizations do?

Some organizations build a community of patients and families impacted by a specific disease or group of related diseases. These organizations usually have more disease-specific information and services, including helping new members find others who have the same disease.

What do organizations that focus on a medical condition do?

Some organizations build a community of patients and families impacted by a medical condition, like epilepsy, or related conditions, like heart problems, that may also be a symptom in other diseases. These organizations usually have information and services focused more on the medical condition(s), but may also have information about associated diseases.

What do umbrella organizations do?

Rare disease umbrella organizations focus on improving the lives of all those impacted by rare diseases through education and advocacy efforts. Umbrella organizations provide a range of services for patients, families, and disease-specific organizations.

Patient Organizations

5 Organizations

Organization Name

Organization Type

Service

Country

Language

Progeria Research Foundation, Inc.
https://www.progeriaresearch.org/
Disease Specific

Progeria

Service

Research

Information

Country

United States

Language

English

EveryLife Foundation for Rare Diseases
https://everylifefoundation.org/
Umbrella

Progeria

Service

Information

Country

United States

Language

English

Spanish

Global Genes
http://globalgenes.org/
Umbrella

Progeria

Service

Information

Country

United States

Language

English

Genetic Alliance
http://www.geneticalliance.org/
Umbrella

Progeria

Service

Information

Country

United States

Language

English

National Organization for Rare Disorders
https://rarediseases.org/
Umbrella

Progeria

Service

Information

Research

Country

United States

Language

English

Spanish

5 Organizations

Research

Why is Research Important for Rare Diseases?

Research increases what we know about rare diseases so that people can get a diagnosis more quickly and can know what to expect. Research also helps doctors better understand how well a treatment works and can lead to new treatment discoveries. It may even help improve diagnosis and treatment of more common diseases.

How do you find the right clinical study?

Current clinical studies can be found by using ClinicalTrials.gov (see below). Doctors, other trusted medical professionals, and patient organizations may also be aware of studies.

To determine whether a study may be appropriate:

  • Discuss the clinical study with a trusted medical provider before enrolling
  • Review the "Study Description," which discusses the purpose of the study, and "Eligibility Criteria," which lists who can and cannot participate in the study
  • Work with the research coordinator to review the written informed consent, including the risks and benefits of the study
  • Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation
  • Determine whether health insurance is required and whether there are costs to the participant for the medical care, travel, and lodging
  • Ask questions. Remember, it is okay to decide not to participate in research

For More Information

How Do You Find the Right Clinical Study?

Current clinical studies can be found by using ClincalTrials.gov. Doctors, other trusted medical professionals, and patient organizations may also be aware of studies. Researchers from participating institutions use the database to search for patients or healthy volunteers who meet their study criteria.

How do you find the right clinical study?

Current clinical studies can be found by using ClinicalTrials.gov (see below). Doctors, other trusted medical professionals, and patient organizations may also be aware of studies.

To determine whether a study may be appropriate:

  • Discuss the clinical study with a trusted medical provider before enrolling
  • Review the "Study Description," which discusses the purpose of the study, and "Eligibility Criteria," which lists who can and cannot participate in the study
  • Work with the research coordinator to review the written informed consent, including the risks and benefits of the study
  • Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation
  • Determine whether health insurance is required and whether there are costs to the participant for the medical care, travel, and lodging
  • Ask questions. Remember, it is okay to decide not to participate in research

For More Information

How Do You Find the Right Clinical Study?

Current clinical studies can be found by using ClincalTrials.gov. Doctors, other trusted medical professionals, and patient organizations may also be aware of studies. Researchers from participating institutions use the database to search for patients or healthy volunteers who meet their study criteria.

ClinicalTrials.gov provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. Check this site often for new trials that become available.
Please contact GARD if you need help. Our Information Specialists can help you find a clinical trial and answer questions about rare diseases. GARD cannot enroll individuals in clinical trials.
ClinicalTrials.gov provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. Check this site often for new trials that become available.
Please contact GARD if you need help. Our Information Specialists can help you find a clinical trial and answer questions about rare diseases. GARD cannot enroll individuals in clinical trials.

Learn about symptoms, cause, support, and research for a rare disease. 

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Find resources for patients and caregivers that address the challenges of living with a rare disease.

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Last Updated: February 2023