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Disease Profile
Pearson syndrome
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.
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Age of onset
Infancy
ICD-10
D64.0
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)
Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly); Pearson's marrow/pancreas syndrome; Pearson's syndrome;
Categories
Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases;
Summary
Pearson
Pearson syndrome is caused by a change (
Diagnosis of Pearson syndrome is possible through a bone marrow biopsy, a urine test, or a special stool test.
Symptoms
Pearson syndrome may also affect the pancreas, which is a gland found in our abdomen or belly. The pancreas is responsible for making special
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 | ||
Bone marrow hypocellularity |
Bone marrow failure
|
0005528 |
Elevated lactate:pyruvate ratio | 0032653 | |
Hyperalaninemia |
Increased blood alanine
Increased serum alanine
[ more ] |
0003348 |
Lacticaciduria |
High urine lactic acid levels
|
0003648 |
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 |
Reticulocytosis |
Increased immature red blood cells
Increased number of immature red blood cells
[ more ] |
0001923 |
Severe infection | 0032169 | |
30%-79% of people have these symptoms | ||
Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
Disease of the heart muscle
|
0001638 | |
Corneal stromal edema | 0012040 | |
Exocrine pancreatic insufficiency |
Inability to properly digest food due to lack of pancreatic digestive enzymes
|
0001738 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Increased CSF lactate | 0002490 | |
Increased serum lactate | 0002151 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
Splenomegaly |
Increased spleen size
|
0001744 |
Thrombocytopenia |
Low platelet count
|
0001873 |
5%-29% of people have these symptoms | ||
0001251 | ||
Cardiac conduction abnormality | 0031546 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Chronic diarrhea | 0002028 | |
Decreased serum bicarbonate concentration | 0032066 | |
Dehydration | 0001944 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
0000819 | ||
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Global |
0001263 | |
Glycosuria |
Glucose in urine
|
0003076 |
Growth hormone deficiency | 0000824 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hepatic failure |
Liver failure
|
0001399 |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
Hydrops fetalis | 0001789 | |
Hypocalcemia |
Low blood calcium levels
|
0002901 |
Hypokalemia |
Low blood potassium levels
|
0002900 |
Hypomagnesemia |
Low blood magnesium levels
|
0002917 |
Hypophosphatemia |
Low blood phosphate level
|
0002148 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Lactic acidosis |
Increased lactate in body
|
0003128 |
Malabsorption of Vitamin B12 | 0200118 | |
Muscular |
Low muscle tone in trunk
|
0008936 |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
Pancreatic fibrosis | 0100732 | |
Pancytopenia |
Low blood cell count
|
0001876 |
Pigmentary retinopathy | 0000580 | |
Poor suck |
Poor sucking
|
0002033 |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Drooping upper eyelid
|
0000508 | |
0001250 | ||
Steatorrhea |
Fat in feces
|
0002570 |
1%-4% of people have these symptoms | ||
Adrenal insufficiency | 0000846 | |
Cafe-au-lait spot |
Cause Pearson
Changes in DNA contains Diagnosis Many tests may be needed to diagnose Pearson
Treatment Unfortunately, there is no cure for Pearson
Unfortunately, a OrganizationsSupport 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
Organizations Providing General Support
Learn moreThese 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
In-Depth Information
References
Rare Hematology News |