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Disease Profile

Pontocerebellar hypoplasia

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

Infancy

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ICD-10

Q04.3

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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Categories

Nervous System Diseases

Summary

Pontocerebellar hypoplasia (PCH) is a group of conditions affecting the brain characterized by underdevelopment of the cerebellum and pons. The cerebellum normally coordinates movement and the pons (located in the brainstem) transmits signals from the cerebellum to the rest of the brain. Several forms of PCH have been described, each having some different signs and symptoms but all characterized by problems with movement, delayed psychomotor development, and intellectual disability. Although each form has a different genetic cause, they are all inherited in an autosomal recessive manner.[1][2] Many children with PCH live only into infancy or childhood, although some individuals have lived into adulthood.[1] Treatment is symptomatic and supportive.[2]

Cause

The different forms of pontocerebellar hypoplasia (PCH) are generally caused by mutations in several different genes. These genes appear to play important roles in the development and survival of nerve cells. However, it is unclear how mutations in these genes disrupt the normal development of the cerebellum and pons.[1] Research thus far has found that:[1][3]

  • PCH1A can be caused by mutations in the VRK1 gene
  • PCH1B is caused my mutations in the EXOSC3 gene
  • PCH2 is caused by mutations in the TSEN54, TSEN2, TSEN34, and SEPSECS genes
  • PCH4 is caused by mutations in the TSEN54 gene
  • PCH6 is caused by mutations in the RARS2 gene
  • PCH8 is caused by mutations in the CHMP1A gene

Specific genes that cause PCH3, PCH5 and PCH7 have not yet been identified.[3]

Although experts agree that PCH has a genetic cause, other causes (such as infectious or toxic) have been reported or suspected in some cases.[4]

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

    • MedlinePlus Genetics contains information on Pontocerebellar hypoplasia. This website is maintained by the National Library of Medicine.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      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 Pontocerebellar hypoplasia. Click on the link to view a sample search on this topic.

        References

        1. Pontocerebellar hypoplasia. Genetics Home Reference. December 2009; https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia. Accessed 12/18/2012.
        2. Pontocerebellar hypoplasia. NORD. March 16, 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1211/viewAbstract. Accessed 12/18/2012.
        3. Pontocerebellar Hypoplasia Type 1A; PCH1A. Online Mendelian Inheritance in Man. April 14, 2017; https://omim.org/entry/607596.
        4. Chaves-Vischer V, Pizzolato GP, Hanquinet S, Maret A, Bottani A, Haenggeli CA. Early fatal pontocerebellar hypoplasia in premature twin sisters. Eur J Paediatr Neurol. 2000; 4(4):171-176.

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