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Disease Profile

Pierson syndrome

Prevalence
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

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Microcoria congenital nephrotic syndrome; Microcoria congenital nephrosis

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary

Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neurodevelopmental problems; and blindness.[1] Hypotonia (poor muscle tone) and movement disorders have also been reported.[2] Pierson syndrome is caused by changes (mutations) in the LAMB2 gene and is inherited in an autosomal recessive manner.[1][2] The long-term outlook is poor; affected infants may not survive past the first weeks or months of life.[2][3]

Symptoms

The features and severity of Pierson syndrome can vary among affected people. Affected infants are usually born with serious and progressive kidney disease due to congenital nephrotic syndrome, although some do not have kidney failure until adulthood. Most require a renal transplant for end-stage kidney disease within the first decade of life.

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 cataractsglaucoma, retinal detachments, and blindness.

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
Autosomal recessive inheritance
0000007
Blindness
0000618
Diffuse mesangial sclerosis
0001967
Edema
Fluid retention
Water retention

[ more ]

0000969
Generalized hypotonia
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
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Psychomotor retardation
0025356
Stage 5 chronic kidney disease
0003774

Diagnosis

Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. 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.

According to the GTR, genetic testing for Pierson syndrome may be available for diagnosis in a person suspected of having the condition, carrier testing, and prenatal testing.

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

      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

        1. 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.
        2. 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.
        3. Jane Kelly. Pierson Syndrome. OMIM. August 12, 2011; https://www.omim.org/entry/609049.
        4. Pierson syndrome. The University of Arizona. 2015; https://disorders.eyes.arizona.edu/disorders/pierson-syndrome.

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