Rare Nephrology News

Disease Profile

PURA 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.

Unknown

Age of onset

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ICD-10

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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)

PURA-related neurodevelopmental disorder

Summary

PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, moderate to severe intellectual disabilityseizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. Additional signs and symptoms may include autism; excessive drowsiness; difficulty controlling body temperature; heart, gastrointestinal, eye and hormonal problems; skeletal problems such as an abnormal curvature of the spine (scoliosis) or a small hip socket that doesn't fully cover the upper thighbone, known as hip dysplasia;and short stature.[1][2][3][4]

PURA syndrome occurs when one of a person's two copies of the PURA gene, located on chromosome 5, does not function normally.[1][2] This can be caused by a spelling mistake (variant or mutation) in the gene or by loss of one copy of the gene (deletion).[1] Because the features of PURA syndrome are common, a genetic test (such as whole genome sequencing) is needed for diagnosis.[2] Treatment typically includes speech and language support as well as physical and occupational therapy and surgery to correct any birth defects or bone problems. Early intervention is important.[1][2]

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 Supporting this Disease

    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.

    Where to Start

    • Genetics Home Reference (GHR) contains information on PURA syndrome. This website is maintained by the National Library of Medicine.
    • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about PURA syndrome.

      In-Depth Information

      • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
      • 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. 
      • PubMed is a searchable database of medical literature and lists journal articles that discuss PURA syndrome. Click on the link to view a sample search on this topic.

        Selected Full-Text Journal Articles

          References

          1. PURA and 5q31.3 deletion syndrome. Unique. 2015; https://www.rarechromo.org/information/Chromosome%20%205/PURA%20and%205q31%20FTNW.pdf.
          2. PURA Syndrome. PURA Syndrome Foundation. 2016; https://www.purasyndrome.org/condition.
          3. Lee BH, Reijnders MRF, Abubakare O & cols. Expanding the neurodevelopmental phenotype of PURA syndrome. Am J Med Genet A. January, 2018; 176(1):56-67. https://www.ncbi.nlm.nih.gov/pubmed/29150892.
          4. Reijnders MRF, Janowski R, Alvi M & cols. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. J Med Genet. November 2, 2017; https://www.ncbi.nlm.nih.gov/pubmed/29150892.