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Disease Profile
Hirschsprung disease
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.
1-5 / 10 000
Age of onset
Infancy
ICD-10
Q43.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
HSCR; Hirschsprung disease 1; HSCR 1;
Categories
Congenital and Genetic Diseases; Digestive Diseases
Summary
Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve
Symptoms
Infants with HSCR frequently present in the newborn period with failure to pass meconium (the name given to the first feces) within the first 48 hours of life. Other symptoms in infants include constipation, vomiting, abdominal pain or distention, and diarrhea. However, because the initial diagnosis of HSCR may be delayed until late childhood or adulthood, HSCR should be considered in anyone with lifelong severe constipation. People with this disease have an increased chance to develop infections or a hole in the wall of the bowels (intestinal perforation).[2][1]
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 pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
Constipation | 0002019 | |
Intestinal obstruction |
Bowel obstruction
Intestinal blockage
[ more ] |
0005214 |
Nausea and vomiting | 0002017 | |
30%-79% of people have these symptoms | ||
Weight loss | 0001824 | |
5%-29% of people have these symptoms | ||
Adducted thumb |
Inward turned thumb
|
0001181 |
Diarrhea |
Watery stool
|
0002014 |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intestinal polyposis | 0200008 | |
0100031 | ||
Sensorineural hearing impairment | 0000407 | |
Sepsis |
Infection in blood stream
|
0100806 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Percent of people who have these symptoms is not available through HPO | ||
Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] |
0003270 |
Abnormality of enteric ganglion morphology | 0004362 | |
0000006 | ||
Enterocolitis | 0004387 | |
Vomiting |
Throwing up
|
0002013 |
Cause
- Part of a
syndrome - In association with a
chromosome anomaly (such astrisomy 21 or Down syndrome) - Along with other
birth defects but not as a part of a known syndrome - As an isolated condition
Isolated HSCR can result from
To learn more about the genes associated with isolated HSCR you can visit GeneReviews.
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
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes gastrointestinal malformations such as anorectal atresia, chronic intestinal pseudoobstruction, meconium ileus (see these terms), anorectal stenosis and pelvic tumors.
Visit the Orphanet disease page for more information.
|
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
-
Association of Gastrointestinal Motility Disorders (AGMD)
140 Pleasant Street
Lexington, MA 02421
Telephone: +1-781-275-1300
E-mail: [email protected]
Website: https://www.agmdhope.org/ -
International Foundation for Functional Gastrointestinal Disorders (IFFGD)
3015 Dunes West Blvd. Suite 512
Mount Pleasant, SC 29466
Telephone: +1-414-964-1799
Website: https://iffgd.org/ -
Pull-thru Network
1705 Wintergreen Pkwy
Normal, IL 61761
Telephone: 309-262-0786
E-mail: [email protected]
Website: https://www.pullthrunetwork.org/
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 was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Hirschsprung disease. This website is maintained by the National Library of Medicine.
- The Merck Manual Online Medical Library provides information on digestive tract defects. Click on Merck Manual to view the information page.
- The National Digestive Diseases Information Clearinghouse (NIDDK) offers information on this condition. Click on the link to view information on this topic.
- 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
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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 Hirschsprung disease. Click on the link to view a sample search on this topic.
References
- Hirschsprung disease. Genetics Home Reference (GHR). August 2012; https://ghr.nlm.nih.gov/condition/hirschsprung-disease.
- Parisi MA. Hirschsprung Disease Overview. GeneReviews. 2015; https://www.ncbi.nlm.nih.gov/books/NBK1439/.
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