Hirschsprung's disease

Common Name(s)

Hirschsprung's disease, Hirschsprung disease 1

Hirschsprung disease is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to expel stools from the body normally. Symptoms of Hirschsprung disease usually show up in very young children, but sometimes not until adolescence or adulthood. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hirschsprung's disease" for support, advocacy or research.

Association of Gastrointestinal Motility Disorders, Inc. (AGMD)

AGMD is a nonprofit international organization which serves as an integral educational resource concerning digestive motility diseases and disorders. It also functions as an important information base for members of the medical and scientific communities. In addition, it provides a forum for patients suffering from digestive motility diseases and disorders as well as their families and members of the medical community.

Last Updated: 28 Feb 2013

View Details
Mowat Wilson Support

We are a support group and website where families can share information about Mowat-Wilson Syndrome. Our website includes support group information, a forum, photos and profiles of children with MWS and parent survey pages. We want to help inform the public about this rare condition and to help those affected by it not feel so alone by giving them a place to exchange information and experiences with others in the same situation.

Last Updated: 6 Mar 2014

View Details
Pull-thru Network, Inc.

The Pull-thru Network is a volunteer-based organization dedicated to providing education, information, support and advocacy for those individuals, and the families of those individuals, who are affected by any congenital anorectal, colorectal or urogenital disorder and any of the variety of related diagnoses.

Last Updated: 8 Nov 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hirschsprung's disease" for support, advocacy or research.

Association of Gastrointestinal Motility Disorders, Inc. (AGMD)

AGMD is a nonprofit international organization which serves as an integral educational resource concerning digestive motility diseases and disorders. It also functions as an important information base for members of the medical and scientific communities. In addition, it provides a forum for patients suffering from digestive motility diseases and disorders as well as their families and members of the medical community.

http://www.agmd-gimotility.org

Last Updated: 28 Feb 2013

View Details
Mowat Wilson Support

We are a support group and website where families can share information about Mowat-Wilson Syndrome. Our website includes support group information, a forum, photos and profiles of children with MWS and parent survey pages. We want to help inform the public about this rare condition and to help those affected by it not feel so alone by giving them a place to exchange information and experiences with others in the same situation.

http://www.mowatwilson.org

Last Updated: 6 Mar 2014

View Details
Pull-thru Network, Inc.

The Pull-thru Network is a volunteer-based organization dedicated to providing education, information, support and advocacy for those individuals, and the families of those individuals, who are affected by any congenital anorectal, colorectal or urogenital disorder and any of the variety of related diagnoses.

http://www.PullthruNetwork.org

Last Updated: 8 Nov 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hirschsprung's disease" returned 168 free, full-text research articles on human participants. First 3 results:

The use of mechanical suture in the treatment of Hirschsprung's disease: experience of 17 cases.
 

Author(s): Ri Spataru

Journal: Chirurgia (Bucur). ;109(2):208-12.

 

Hirschsprung's disease, or congenital megacolon,is a malformation characterised by the absence of ganglion cells in the distal bowel. Most often, the aganglionic segment includes the rectosigmoid, but it may extend proximally to variable length. In late years, significant improvements ...

Last Updated: 18 Apr 2014

Go To URL
Pathways systematically associated to Hirschsprung's disease.
 

Author(s): Raquel M Fernández, Marta Bleda, Berta Luzón-Toro, Luz García-Alonso, Stacey Arnold, Yunia Sribudiani, Claude Besmond, Francesca Lantieri, Betty Doan, Isabella Ceccherini, Stanislas Lyonnet, Robert Mw Hofstra, Aravinda Chakravarti, Guillermo Antiñolo, Joaquín Dopazo, Salud Borrego

Journal:

 

Despite it has been reported that several loci are involved in Hirschsprung's disease, the molecular basis of the disease remains yet essentially unknown. The study of collective properties of modules of functionally-related genes provides an efficient and sensitive statistical framework ...

Last Updated: 23 Dec 2013

Go To URL
A prospective observational study of associated anomalies in Hirschsprung's disease.
 

Author(s): Alessio Pini Prato, Valentina Rossi, Manuela Mosconi, Catarina Holm, Francesca Lantieri, Paola Griseri, Isabella Ceccherini, Domenico Mavilio, Vincenzo Jasonni, Giulia Tuo, Maria Derchi, Maurizio Marasini, Gianmichele Magnano, Claudio Granata, Gianmarco Ghiggeri, Enrico Priolo, Lorenza Sposetti, Adelina Porcu, Piero Buffa, Girolamo Mattioli

Journal:

 

Associated anomalies have been reported in around 20% of Hirschsprung patients but many Authors suggested a measure of underestimation. We therefore implemented a prospective observational study on 106 consecutive HSCR patients aimed at defining the percentage of associated anomalies ...

Last Updated: 2 Dec 2013

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hirschsprung's disease" returned 13 free, full-text review articles on human participants. First 3 results:

Genetic interactions and modifier genes in Hirschsprung's disease.
 

Author(s): Adam S Wallace, Richard B Anderson

Journal: World J. Gastroenterol.. 2011 Dec;17(45):4937-44.

 

Hirschsprung's disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of enteric neurons along a variable region of the gastrointestinal tract. Hirschsprung's disease is classified as a multigenic disorder, because the same phenotype ...

Last Updated: 16 Dec 2011

Go To URL
Genetic model system studies of the development of the enteric nervous system, gut motility and Hirschsprung's disease.
 

Author(s): G Burzynski, I T Shepherd, H Enomoto

Journal: Neurogastroenterol. Motil.. 2009 Feb;21(2):113-27.

 

The enteric nervous system (ENS) is the largest and most complicated subdivision of the peripheral nervous system. Its action is necessary to regulate many of the functions of the gastrointestinal tract including its motility. Whilst the ENS has been studied extensively by developmental ...

Last Updated: 13 Feb 2009

Go To URL
Hirschsprung's disease: diagnosis and management.
 

Author(s): Jennifer Kessmann

Journal: Am Fam Physician. 2006 Oct;74(8):1319-22.

 

Hirschsprung's disease (congenital megacolon) is caused by the failed migration of colonic ganglion cells during gestation. Varying lengths of the distal colon are unable to relax, causing functional colonic obstruction. Hirschsprung's disease most commonly involves the rectosigmoid ...

Last Updated: 7 Nov 2006

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Identification of Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease
 

Status: Recruiting

Condition Summary: Hirschsprung Disease; Hirschsprung Associated Enterocolitis

 

Last Updated: 17 Jul 2014

Go to URL
Hirschsprung Disease Genetic Study
 

Status: Recruiting

Condition Summary: Hirschsprung Disease

 

Last Updated: 5 Feb 2014

Go to URL
Genetic Mosaicism in Hirschsprung's Disease
 

Status: Recruiting

Condition Summary: Hirschsprung Disease

 

Last Updated: 20 Aug 2013

Go to URL