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Disease Profile

Microvillus inclusion disease

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

Infancy

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ICD-10

P78.3

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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Other names (AKA)

Davidson disease; Microvillus atrophy, congenital; Congenital familial protracted diarrhea with enterocyte brush-border abnormalities;

Categories

Congenital and Genetic Diseases; Digestive Diseases

Summary

Microvillus inclusion disease is an intestinal disorder characterized by severe, watery diarrhea and an inability of the intestines to absorb nutrients. Symptoms typically develop in the first days (early-onset) or first months (late-onset) of life. Without adequate water and nutrients, children with this condition can become dehydrated, suffer from malnutrition, and fail to grow and develop normally. Management is difficult and relies on total parenteral nutrition. The advent of intestinal transplantation has improved the outlook for these patients. Microvillus inclusion disease is inherited in an autosomal recessive manner.[1][2]

Symptoms

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
30%-79% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
Abnormal renal physiology
Abnormal kidney function
Kidney function issue

[ more ]

0012211
Dehydration
0001944
Diarrhea
Watery stool
0002014
Global developmental delay
0001263
Hypovolemia
Depleted blood volume
0011106
Metabolic acidosis
0001942
Nephrocalcinosis
Too much calcium deposited in kidneys
0000121
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Villous atrophy
0011473
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Death in infancy
Infantile death
Lethal in infancy

[ more ]

0001522
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Malnutrition
0004395
Protracted diarrhea
0004385

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.

Treatment

While different medications have been tried to control the severe diarrhea associated with this condition, none of them have proven effective.[1] Children with microvillus inclusion disease are totally dependent on parenteral nutrition for nourishment. This, however, is not a long-term solution, as children who rely on this type of nutrition are at increased risk for malnutrition, dehydration, infections and liver complications. A more recent and long-term management option involves intestinal (small bowel) transplantation.[1][2] Children with microvillus inclusion disease should be followed by experienced health care providers in a center which specializes in pediatric gastrointestinal disorders.[2]

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 Microvillus inclusion disease. 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

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Microvillus inclusion disease. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

References

  1. Microvillus Inclusion Disease. Children's Hospital of Pittsburgh. December 12, 2010; https://www.chp.edu/CHP/Microvillus. Accessed 10/5/2011.
  2. Ruemmele FM, Schmitz J, Goulet O. Microvillous inclusion disease. Orphanet. June 2006; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2157&Disease_Disease_Search_diseaseGroup=Microvillus-inclusion-disease&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Microvillus-inclusion-disease&title=M. Accessed 10/5/2011.

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