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Disease Profile
Pierson 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
Neonatal
ICD-10
Q13.8
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)
Microcoria congenital nephrotic syndrome; Microcoria congenital nephrosis
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases
Summary
Pierson
Symptoms
Ocular (eye) abnormalities are another common feature of Pierson syndrome. Most affected infants are born with abnormally small pupils (microcoria). Other ocular abnormalities may include
Those that survive past infancy typically have neurological disabilities and developmental delays. Many children with Pierson syndrome don't achieve normal milestones such as sitting, standing, and talking.[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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Areflexia |
Absent tendon reflexes
|
0001284 |
0000007 | ||
Blindness | 0000618 | |
Diffuse mesangial sclerosis | 0001967 | |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hypoplasia of the ciliary body | 0007774 | |
Hypoplasia of the iris |
Underdeveloped iris
|
0007676 |
Hypoproteinemia |
Decreased protein levels in blood
|
0003075 |
Microcoria | 0025492 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Neonatal onset | 0003623 | |
Nephrotic syndrome | 0000100 | |
Posterior lenticonus | 0011502 | |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Psychomotor retardation | 0025356 | |
Stage 5 chronic kidney disease | 0003774 |
Diagnosis
According to the GTR,
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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 Providing General Support
-
American Association of Kidney Patients
3505 E. Frontage Rd., Suite 315
Tampa, FL 33607-1796
Toll-free: 800-749-2257
Telephone: 813-636-8100
Fax: 813-636-8122
E-mail: [email protected]
Website: https://www.aakp.org -
American Kidney Fund (AKF)
11921 Rockville Pike
Suite 300
Rockville, MD 20852
Toll-free: 866-300-2900
E-mail: [email protected]
Website: https://www.kidneyfund.org -
National Alliance for Eye and Vision Research (NAEVR)
5515 Security Lane
Suite 500
Rockville, MD 20852
Telephone: +1-240-221-2905
E-mail: [email protected]
Website: https://www.eyeresearch.org/ -
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Toll-free: 800-622-9010
Telephone: 212-889-2210
Fax: 212-689-9261
E-mail: [email protected]
Website: https://www.kidney.org/ -
Retina International
Suite 108, Camden Business Centre
12 Camden Row
Dublin 8
Ireland
Telephone: +353 1 472 0468
E-mail: [email protected]
Website: https://www.retina-international.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.
In-Depth Information
- 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 Pierson syndrome. Click on the link to view a sample search on this topic.
References
- Aydin B, et. al. A novel mutation of laminin ß-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. Genet Couns. 2013; 24(2):141-147.
- P. Niaudet. Pierson syndrome. Orphanet. February 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2670. Accessed 7/11/2011.
- Jane Kelly. Pierson Syndrome. OMIM. August 12, 2011; https://www.omim.org/entry/609049.
- Pierson syndrome. The University of Arizona. 2015; https://disorders.eyes.arizona.edu/disorders/pierson-syndrome.
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