IED
MCID: TFT003
MIFTS: 28

Tufting Enteropathy (IED) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases categories

Summaries for Tufting Enteropathy

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34MalaCards
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MalaCards: Tufting Enteropathy, also known as congenital familial intractable diarrhea with enterocytes assembly abnormalities, is related to adenocarcinoma and pancreatic cancer. An important gene associated with Tufting Enteropathy is EPCAM (epithelial cell adhesion molecule).

Aliases & Classifications for Tufting Enteropathy

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Sources:
44NIH Rare Diseases, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Gastrointestinal diseases


Aliases & Descriptions:

tufting enteropathy 44
congenital familial intractable diarrhea with enterocytes assembly abnormalities 44
intestinal epithelial dysplasia 44
congenital enteropathy 44
intestinal diseases 63
ied 44


Related Diseases for Tufting Enteropathy

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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53PubMed
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Articles related to Tufting Enteropathy:

(show all 22)
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
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. (24142340)
2013
4
Absence of cell-surface EpCAM in congenital tufting enteropathy. (23462293)
2013
5
mTrop1/Epcam knockout mice develop congenital tufting enteropathy through dysregulation of intestinal E-cadherin/I^-catenin. (23209569)
2012
6
Linear growth and circulating insulin-like growth factor I in children with tufting enteropathy receiving long-term TPN. (22411267)
2012
7
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf. (21315192)
2011
8
Congenital tufting enteropathy in the era of molecular genetics. (21691225)
2011
9
Intractable diarrhea with tufting enteropathy: a favorable outcome is possible. (21478758)
2011
10
Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy. (20447614)
2010
11
Further evidence for EpCAM as the gene for congenital tufting enteropathy. (20034091)
2010
12
Tufting Enteropathy with EpCAM Mutations in Two Siblings. (20981223)
2010
13
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. (20009592)
2010
14
Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation. (19820410)
2009
15
Identification of EpCAM as the gene for congenital tufting enteropathy. (18572020)
2008
16
A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. (17786112)
2007
17
Tufting enteropathy and skeletal dysplasia: is there a link? (16900309)
2007
18
Intestinal epithelial dysplasia (tufting enteropathy). (17448233)
2007
19
Isolated small bowel transplantation for tufting enteropathy. (12500010)
2003
20
Successful pregnancy outcome in tufting enteropathy. (12500014)
2003
21
Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy). (9287975)
1997
22
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tufting Enteropathy

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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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Products for genes affiliated with Tufting Enteropathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tufting Enteropathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet