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Disease Profile

Megacystis microcolon intestinal hypoperistalsis 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

Infancy

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ICD-10

Q43.8

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.

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)

MMIH syndrome; Berdon syndrome; MMIHS;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Kidney and Urinary Diseases

Summary

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital condition characterized by abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis); very small colon (microcolon); and decreased or absent intestinal movements (intestinal peristalsis). Usual clinical presentation is similar to other neonatal intestinal obstructions: bile stained vomiting and failure to pass meconium (the first bowel movement the baby has). Other intestinal anomalies may be present like intestinal malrotation. Many problems with the urinary tract result from the bladder dysfunction. It is part of a group of conditions caused by changes (mutations) in the ACTG2 gene and is inherited in an autosomal dominant manner. However medical scientists believe that many cases of MMIHS are caused by de novo mutations in the ACTG2 gene (meaning the mutation in the gene happened by mistake during the making of the sperm or egg). There is currently no cure for MMIHS and treatment is supportive. In the majority of patients total parenteral nutrition is required.[1]

Symptoms

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is primarily characterized by abdominal distention caused by an enlarged bladder (megacystis) and intestinal pseudo-obstruction.The enlarged bladder may be detected prenatally.[2] Children with MMIHS may have various abnormalities of the digestive tract, including microcolon (very small colon), malrotation of the gut, decreased or absent intestinal movements, and short bowel. Additional abnormalities of the urinary tract that have been described include renal dysplasia, hydronephrosis, and enlargement of the ureter. Abnormalities that have been reported in some cases include undescended testes or bilateral streak gonads (underdeveloped gonads), heart anomalies, umbilical hernia, or omphalocele.[2]

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
80%-99% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
Hypoperistalsis
0100771
Megacystis
0000021
Microcolon
0004388
Nausea and vomiting
0002017
30%-79% of people have these symptoms
Hydroureter
0000072
Intestinal malrotation
0002566
Multicystic kidney dysplasia
0000003
Polyhydramnios
High levels of amniotic fluid
0001561
5%-29% of people have these symptoms
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Death in infancy
Infantile death
Lethal in infancy

[ more ]

0001522
Neoplasm of the heart
Heart tumor
0100544
Omphalocele
0001539
Pancreatitis
Pancreatic inflammation
0001733
Sepsis
Infection in blood stream
0100806
Umbilical hernia
0001537
Percent of people who have these symptoms is not available through HPO
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Autosomal dominant inheritance
0000006
Constipation
0002019
Diarrhea
Watery stool
0002014
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Hydronephrosis
0000126
Intestinal pseudo-obstruction
0004389
Malnutrition
0004395
Urinary retention
0000016
Vesicoureteral reflux
0000076
Vomiting
Throwing up
0002013

Cause

This condition is part of a group of disorders caused by mutations in the ACTG2 gene. ACTG2-related disorders are inherited in an autosomal dominant manner.[1]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

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 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.

      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.
      • 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 Megacystis microcolon intestinal hypoperistalsis syndrome. Click on the link to view a sample search on this topic.

        References

        1. Wangler MF. ACTG2-Related Disorders. GeneReviews. June 11, 2015; https://www.ncbi.nlm.nih.gov/books/NBK299311/.
        2. Puri P. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Orphanet. September, 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2241.

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