Rare Immunology News

Disease Profile

Hypoganglionosis

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)

Intestinal hypoganglionosis

Summary

Hypoganglionosis, also known as intestinal hypoganglionosis, is a disorder causing a reduced number of nerves in the intestinal wall. Intestinal hypoganglionosis can mimic Hirschsprung disease; patients with both conditions may present with chronic constipation, intestinal obstruction, and enterocolitis (inflammation of the intestines).[1][2] Patients with hypoganglionosis may also suffer from severe complications including fecaloma (hardening of the feces inside the colon), bleeding or perforation of the intestine, and breathing problems resulting from a distended colon.[1] An accurate diagnosis in adults is often difficult, requiring one or more biopsies of the intestinal wall.[1][3] The exact cause of hypoganglionoisis is not known. In some cases, it is due to factors present at birth (congenital), while other times it is believed to be an acquired condition. The management of isolated hypoganglionosis generally involves surgery to remove the affected bowel segment.[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 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

    • PubMed is a searchable database of medical literature and lists journal articles that discuss Hypoganglionosis. Click on the link to view a sample search on this topic.

      References

      1. Kim, Hye Jin, et al.. Hirschsprung Disease and Hypoganglionosis in Adults: Radiologic Findings and Differentiation. RSNA Radiology. May, 2008; 247(2):https://pubs.rsna.org/doi/full/10.1148/radiol.2472070182. Accessed 8/7/2015.
      2. Friedmacher, F and Puri, P.. Classification and diagnostic criteria of variants of Hirschsprung's disease. Pediatr Surg Int.. Sept, 2013; 29(9):855-72. https://www.ncbi.nlm.nih.gov/pubmed/?term=23943250. Accessed 8/7/2015.
      3. Dingemann, Jens and Puri, Prem. Isolated hypoganglionosis: systematic review of a rare intestinal innervation defect. Pediatr Surg Int. 2010; 26:1111-1115. https://www.ncbi.nlm.nih.gov/pubmed/?term=20721562. Accessed 8/7/2015.