IED
MCID: TFT003
MIFTS: 26

Tufting Enteropathy (IED) malady

Gastrointestinal, Genetic categories

Summaries for Tufting Enteropathy

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33MalaCards
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MalaCards: Tufting Enteropathy, also known as congenital familial intractable diarrhea with enterocytes assembly abnormalities, is related to thalassemia and bipolar disorder. An important gene associated with Tufting Enteropathy is EPCAM (epithelial cell adhesion molecule). Affiliated tissues include small intestine.

Aliases & Classifications for Tufting Enteropathy

Sources:
43NIH Rare Diseases, 61UMLS
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Classifications:

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


Aliases & Descriptions:

tufting enteropathy 43
congenital familial intractable diarrhea with enterocytes assembly abnormalities 43
intestinal epithelial dysplasia 43
congenital enteropathy 43
intestinal diseases 61
ied 43


Related Diseases for Tufting Enteropathy

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Tufting Enteropathy:



Diseases related to tufting enteropathy

Clinical Features for Tufting Enteropathy

Drugs & Therapeutics for Tufting Enteropathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Tufting Enteropathy

Search CenterWatch for Tufting Enteropathy

Genetic Tests for Tufting Enteropathy

Anatomical Context for Tufting Enteropathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Tufting Enteropathy:

33
Small intestine

Animal Models for Tufting Enteropathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Tufting Enteropathy

Sources:
51PubMed
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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

Genetic Variations for Tufting Enteropathy

Expression for genes affiliated with Tufting Enteropathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tufting Enteropathy

Search GEO for disease gene expression data for Tufting Enteropathy.

Pathways for genes affiliated with Tufting Enteropathy

Compounds for genes affiliated with Tufting Enteropathy

GO Terms for genes affiliated with Tufting Enteropathy

Products for genes affiliated with Tufting Enteropathy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tufting Enteropathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet