Tufting enteropathy

Common Name(s)

Tufting enteropathy

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tufting enteropathy" 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 "Tufting enteropathy" returned 2 free, full-text research articles on human participants. First 3 results:

Absence of cell-surface EpCAM in congenital tufting enteropathy.
 

Author(s): Ulrike Schnell, Jeroen Kuipers, James L Mueller, Anneke Veenstra-Algra, Mamata Sivagnanam, Ben N G Giepmans

Journal: Hum. Mol. Genet.. 2013 Jul;22(13):2566-71.

 

Mutations in the epithelial cell adhesion molecule (EpCAM; CD326) gene are causal for congenital tufting enteropathy (CTE), a disease characterized by intestinal abnormalities resulting in lethal diarrhea in newborns. Why the different mutations all lead to the same disease is not ...

Last Updated: 7 Jun 2013

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Identification of EpCAM as the gene for congenital tufting enteropathy.
 

Author(s): Mamata Sivagnanam, James L Mueller, Hane Lee, Zugen Chen, Stanley F Nelson, Dan Turner, Stanley H Zlotkin, Paul B Pencharz, Bo-Yee Ngan, Ondrej Libiger, Nicholas J Schork, Joel E Lavine, Sharon Taylor, Robert O Newbury, Richard D Kolodner, Hal M Hoffman

Journal: Gastroenterology. 2008 Aug;135(2):429-37.

 

Congenital tufting enteropathy (CTE) is a rare autosomal recessive diarrheal disorder presenting in the neonatal period. CTE is characterized by intestinal epithelial cell dysplasia leading to severe malabsorption and significant morbidity and mortality. The pathogenesis and genetics ...

Last Updated: 11 Aug 2008

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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 "Tufting enteropathy" returned 1 free, full-text review articles on human participants. First 3 results:

Intestinal epithelial dysplasia (tufting enteropathy).
 

Author(s): Olivier Goulet, Julie Salomon, Frank Ruemmele, Natacha Patey-Mariaud de Serres, Nicole Brousse

Journal:

 

Intestinal epithelial dysplasia (IED), also known as tufting enteropathy, is a congenital enteropathy presenting with early-onset severe intractable diarrhea causing sometimes irreversible intestinal failure. To date, no epidemiological data are available, however, the prevalence ...

Last Updated: 30 May 2007

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.