MCID: TFT003
MIFTS: 26

Tufting Enteropathy malady

Genetic diseases, Rare diseases, Gastrointestinal diseases categories

Aliases & Classifications for Tufting Enteropathy

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Sources:
42NIH Rare Diseases, 48Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Tufting Enteropathy:

Name: Tufting Enteropathy 42 48
Congenital Familial Intractable Diarrhea with Epithelial or Epithelium Abnormalities 42 48
Intestinal Epithelial Dysplasia 42 48
Ied 42 48
 
Congenital Familial Intractable Diarrhea with Enterocytes Assembly Abnormalities 42
Intestinal Intraepithelial Neoplasia 61
Congenital Enteropathy 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital familial intractable diarrhea with epithelial or epithelium abnormalities:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe)


External Ids:

Orphanet48 92050
ICD10 via Orphanet26 P78.3

Summaries for Tufting Enteropathy

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MalaCards based summary: Tufting Enteropathy, also known as congenital familial intractable diarrhea with epithelial or epithelium abnormalities, is related to adenocarcinoma and pancreatic cancer. An important gene associated with Tufting Enteropathy is EPCAM (epithelial cell adhesion molecule).

Related Diseases for Tufting Enteropathy

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Graphical network of the top 20 diseases related to Tufting Enteropathy:



Diseases related to tufting enteropathy

Symptoms for Tufting Enteropathy

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Drugs & Therapeutics for Tufting Enteropathy

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Drug clinical trials:

Search ClinicalTrials for Tufting Enteropathy

Search NIH Clinical Center for Tufting Enteropathy

Genetic Tests for Tufting Enteropathy

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Anatomical Context for Tufting Enteropathy

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Animal Models for Tufting Enteropathy or affiliated genes

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Publications for Tufting Enteropathy

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Articles related to Tufting Enteropathy:

(show all 24)
idTitleAuthorsYear
1
Tufting Enteropathy Revisited: The Utility of MOC31 (EpCAM) Immunohistochemistry in Diagnosis. (24418860)
2014
2
A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy. (24048167)
2014
3
A Novel Compound-Heterozygous EpCAM Mutation in Tufting Enteropathy. (25383784)
2014
4
Linear growth and circulating insulin-like growth factor-I in children with tufting enteropathy receiving long-term TPN: retraction. (24553474)
2014
5
A rare cause of congenital diarrhea in a Turkish newborn: tufting enteropathy. (25818968)
2014
6
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. (24142340)
2013
7
Absence of cell-surface EpCAM in congenital tufting enteropathy. (23462293)
2013
8
mTrop1/Epcam knockout mice develop congenital tufting enteropathy through dysregulation of intestinal E-cadherin/I^-catenin. (23209569)
2012
9
Linear growth and circulating insulin-like growth factor I in children with tufting enteropathy receiving long-term TPN. (22411267)
2012
10
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf. (21315192)
2011
11
Congenital tufting enteropathy in the era of molecular genetics. (21691225)
2011
12
Intractable diarrhea with tufting enteropathy: a favorable outcome is possible. (21478758)
2011
13
Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy. (20447614)
2010
14
Further evidence for EpCAM as the gene for congenital tufting enteropathy. (20034091)
2010
15
Tufting Enteropathy with EpCAM Mutations in Two Siblings. (20981223)
2010
16
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. (20009592)
2010
17
Identification of EpCAM as the gene for congenital tufting enteropathy. (18572020)
2008
18
A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. (17786112)
2007
19
Tufting enteropathy and skeletal dysplasia: is there a link? (16900309)
2007
20
Intestinal epithelial dysplasia (tufting enteropathy). (17448233)
2007
21
Isolated small bowel transplantation for tufting enteropathy. (12500010)
2003
22
Successful pregnancy outcome in tufting enteropathy. (12500014)
2003
23
Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy). (9287975)
1997
24
Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants. (8057225)
1994

Variations for Tufting Enteropathy

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Expression for genes affiliated with Tufting Enteropathy

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Search GEO for disease gene expression data for Tufting Enteropathy.

Pathways for genes affiliated with Tufting Enteropathy

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Compounds for genes affiliated with Tufting Enteropathy

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GO Terms for genes affiliated with Tufting Enteropathy

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Sources for Tufting Enteropathy

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet