Intestinal atresia multiple

Common Name(s)

Intestinal atresia multiple

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Intestinal atresia multiple" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Intestinal atresia multiple" returned 4 free, full-text research articles on human participants. First 3 results:

Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.
 

Author(s): Isabel Fernandez, Natalie Patey, Valérie Marchand, Mirela Birlea, Bruno Maranda, Elie Haddad, Hélène Decaluwe, Françoise Le Deist

Journal: Medicine (Baltimore). 2014 Dec;93(29):e327.

 

Hereditary multiple intestinal atresia (HMIA) is a rare cause of intestinal obstruction in humans associated with a profound combined immune deficiency. Deleterious mutations of the tetratricopeptide repeat domain-7A (TTC7A) gene lead to HMIA, although the mechanism(s) causing the ...

Last Updated: 30 Dec 2014

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Associated type IIIB and type IV multiple intestinal atresia in a pediatric patient.
 

Author(s): R Balanescu, L Topor, I Stoica, A Moga

Journal: Chirurgia (Bucur). ;108(3):407-10.

 

Multiple intestinal atresia (MIA) is a complex congenital defect which represents a challenge for the pediatric surgeon,especially in the rare event of encountering type IIIb or apple peel atresia, which has a high mortality rate. The surgeon’s aim is to preserve as much bowel length ...

Last Updated: 24 Jun 2013

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Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
 

Author(s): Mark E Samuels, Jacek Majewski, Najmeh Alirezaie, Isabel Fernandez, Ferran Casals, Natalie Patey, Hélène Decaluwe, Isabelle Gosselin, Elie Haddad, Alan Hodgkinson, Youssef Idaghdour, Valerie Marchand, Jacques L Michaud, Marc-André Rodrigue, Sylvie Desjardins, Stéphane Dubois, Francoise Le Deist, Philip Awadalla, Vincent Raymond, Bruno Maranda

Journal: J. Med. Genet.. 2013 May;50(5):324-9.

 

Congenital multiple intestinal atresia (MIA) is a severe, fatal neonatal disorder, involving the occurrence of obstructions in the small and large intestines ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency ...

Last Updated: 15 Apr 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 "Intestinal atresia multiple" returned 1 free, full-text review articles on human participants. First 3 results:

Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA, HMIA and HMIA with immunodeficiency over the last 50 years.
 

Author(s): Yasser Ali Hussein Ali, Sajjad Rahman, Venkatraman Bhat, Sheikha Al Thani, Adel Ismail, Ibrahim Bassiouny

Journal:

 

Hereditary multiple intestinal atresia (HMIA), a presumed autosomal recessive disorder, is an unusual and rare form of recurrent intestinal atresia which can be associated with severe combined immunodeficiency (SCID). The combination of HMIA and SCID is invariably lethal. The authors ...

Last Updated: 20 Jun 2012

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
 

Status: Recruiting

Condition Summary: Heterotaxy Syndrome; Congenital Heart Defects

 

Last Updated: 30 Apr 2015

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