Pearson syndrome affects many parts of the body but especially the bone marrow and the pancreas. Pearson syndrome affects the cells in the bone marrow (hematopoietic stem cells) that produce red blood cells, white blood cells, and platelets. Having too few red blood cells (anemia), white blood cells (neutropenia), or platelets (thrombocytopenia) can cause a child to feel weak and tired, be sick more often, bruise more easily and take a longer time to stop bleeding when cut. Pearson syndrome also affects the pancreas, which can cause frequent diarrhea and stomach pain, trouble gaining weight, and diabetes. Some children with Person syndrome may also have problems with their liver, kidneys, heart, eyes, ears, and/or brain. Pearson syndrome is caused by a change in the mitochondrial DNA. These genetic changes can make it hard for the cells of the body to make energy. Most cases of Pearson syndrome happen for the first time in a family which means it is not passed down from either parent (de novo genetic change). Diagnosis of Pearson syndrome is possible through a bone marrow biopsy, a urine test, or a special stool test. Genetic testing can be completed to confirm the diagnosis.
Resource(s) for Medical Professionals and Scientists on This Disease:
This section is currently in development.
About Pearson syndrome
Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:
Population Estimate:Fewer than 1,000 people in the U.S. have this disease.
Symptoms:May start to appear as a Newborn and as an Infant.
Cause:This condition is caused by a change in the genetic material (DNA).
Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
Symptoms of this disease may start to appear as a Newborn and as an Infant.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.
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.
Symptoms
The number and severity of symptoms experienced may differ among people with this disease. Your experience may be different from others, and you should consult your primary care provider for more information.
This list is not all-inclusive, but the following symptoms have been linked to this disease:
Blood and Tissue... Blood and Blood-Forming Tissue
53 Symptoms
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Blood and Blood-Forming Tissue
The blood and blood-forming tissue includes plasma, red blood cells, white blood cells, platelets, and bone marrow. Common symptoms of problems with the blood or blood forming tissue include fatigue, weakness, shortness of breath, fever, abnormal bleeding, headache, or bruising easily. Diseases of the blood may be diagnosed and treated by a hematologist.
Medical Term
Abnormality of bone marrow cell morphology
Frequency
Uncommon
Very frequent
Very frequent
Always
Description
An anomaly of the form or number of cells in the bone marrow.
An anomaly of the form or number of cells in the bone marrow.
Synonym
Anomaly of the bone marrow cells
Anomaly of the bone marrow cells
53 Symptoms
Causes
This section is currently in development.
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):
Mitochondrial Inheritance
Mitochondria are structures in each cell that produce energy and each one contains a small amount of DNA. A mitochondrial disease occurs when a gene located in mitochondrial DNA has a disease causing (pathogenic) variant. Mutation is an older term that is still sometimes used to mean pathogenic variant.
Because only egg cells contribute mitochondria to the developing embryo, only women can pass on mitochondrial variants to their children. Diseases caused by pathogenic variants in mitochondrial DNA can appear in every generation of a family and in both men and women, but fathers do not pass these disorders to their daughters or sons.
If a child is the first person in a family with the mitochondrial disease, the pathogenic variant may have occurred by chance for the first time in the child's mitochondria (de novo).Mitochondria are structures in each cell that produce energy and each one contains a small amount of DNA. A mitochondrial disease occurs when a gene located in mitochondrial DNA has a disease causing (pathogenic) variant. Mutation is an older term that is still sometimes used to mean pathogenic variant.
Because only egg cells contribute mitochondria to the developing embryo, only women can pass on mitochondrial variants to their children. Diseases caused by pathogenic variants in mitochondrial DNA can appear in every generation of a family and in both men and women, but fathers do not pass these disorders to their daughters or sons.
If a child is the first person in a family with the mitochondrial disease, the pathogenic variant may have occurred by chance for the first time in the child's mitochondria (de novo).
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Advocacy and Support Groups
How Can Patient Organizations Help?
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
Ways to connect to others and share personal stories
Easy-to-read information
Up-to-date treatment and research information
Patient registries
Lists of specialists or specialty centers
Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.
Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.
How Do You Find the Right Clinical Study?
To find the right clinical study we recommend you:
Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
Consult doctors, other trusted medical professionals, and patient organizations.
Enroll in databases to allow researchers from participating institutions to find you.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.
How Do You Find the Right Clinical Study?
To find the right clinical study we recommend you:
Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
Consult doctors, other trusted medical professionals, and patient organizations.
Enroll in databases to allow researchers from participating institutions to find you.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
ClinicalTrials.gov, an affiliate of NIH, 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. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases Information Center
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our Information Specialists are available to you by phone or by filling out our contact form. Note, GARD cannot enroll individuals in clinical studies.
ClinicalTrials.gov, an affiliate of NIH, 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. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases Information Center
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our Information Specialists are available to you by phone or by filling out our contact form. Note, GARD cannot enroll individuals in clinical studies.
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.
Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.
