Hirschsprung's disease

Common Name(s)

Hirschsprung's disease, Hirschsprung disease 1

The disorder described by {3:Hirschsprung (1888)} and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur ({1:Amiel et al., 2008}). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance ({1:Amiel et al., 2008}).
 

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

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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

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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

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General Support Organizations

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How do you compare to others with this condition?

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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

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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 163 free, full-text research articles on human participants. First 3 results:

Adult Hirschsprung's disease: report of four cases.
 

Author(s): Jiang-Feng Qiu, Yi-Jiu Shi, Li Hu, Lei Fang, Hui-Fang Wang, Mou-Cheng Zhang

Journal:

 

Adult Hirschsprung's disease (HD) is a rare motor disorder of the gut that is frequently misdiagnosed as refractory constipation. The primary pathogenic defect in adult HD is identical to that seen in infancy or childhood, and is characterized by the total absence of intramural ganglion ...

Last Updated: 7 Aug 2013

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Expression and significance of neuroligins in myenteric cells of Cajal in Hirschsprung's disease.
 

Author(s): Jian Wang, Yaru Mou, Qiangye Zhang, Fan Zhang, Hongchao Yang, Wentong Zhang, Aiwu Li

Journal:

 

The aim of this study was to investigate the expression and significance of neuroligins in myenteric cells of Cajal (ICC-MY) in Hirschsprung's disease (HSCR).

Last Updated: 10 Jul 2013

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Importance of anorectal manometry after definitive surgery for Hirschsprung's disease in children.
 

Author(s): Suzi Demirbag, Tugrul Tiryaki, Tarik Purtuloglu

Journal: Afr J Paediatr Surg. ;10(1):1-4.

 

The purpose of this investigation is to evaluate anorectal function after definitive surgery for Hirschsprung's disease (HD) by anorectal manometry.

Last Updated: 22 Mar 2013

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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 14 free, full-text review articles on human participants. First 3 results:

Advances in molecular genetics of Hirschsprung's disease.
 

Author(s): Zhi-Wen Pan, Ji-Cheng Li

Journal: Anat Rec (Hoboken). 2012 Oct;295(10):1628-38.

 

Hirschsprung's disease (HSCR) is a developmental disorder of the enteric nervous system, which occurs due to the failure of neural crest cells to fully colonize the gut during embryonic development. It is characterized by the absence of the enteric ganglia in a variable length of ...

Last Updated: 13 Sep 2012

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Modern treatment of Hirschsprung's disease.
 

Author(s): A Gunnarsdóttir, T Wester

Journal: Scand J Surg. 2011 ;100(4):243-9.

 

Last Updated: 20 Dec 2011

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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

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic Mosaicism in Hirschsprung's Disease
 

Status: Recruiting

Condition Summary: Hirschsprung Disease

 

Last Updated: 20 Aug 2013

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Hirschsprung Disease Genetic Study
 

Status: Recruiting

Condition Summary: Hirschsprung Disease

 

Last Updated: 5 Feb 2014

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Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial)
 

Status: Recruiting

Condition Summary: Constipation; Hirschsprung Disease

 

Last Updated: 23 Jan 2012

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