MCID: TFT003
MIFTS: 27

Tufting Enteropathy malady

Genetic diseases, Rare diseases, Gastrointestinal diseases categories

Aliases & Classifications for Tufting Enteropathy

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Tufting Enteropathy:

Name: Tufting Enteropathy 45 51
Intestinal Epithelial Dysplasia 45 51
Ied 45 51
Congenital Familial Intractable Diarrhea with Epithelial or Epithelium Abnormalities 51
 
Congenital Familial Intractable Diarrhea with Enterocytes Assembly Abnormalities 45
Intestinal Intraepithelial Neoplasia 65
Congenital Enteropathy 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
intestinal epithelial dysplasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe)


External Ids:

Orphanet51 92050
ICD10 via Orphanet28 P78.3

Summaries for Tufting Enteropathy

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MalaCards based summary: Tufting Enteropathy, also known as intestinal epithelial dysplasia, is related to tumor of cranial and spinal nerves and breast 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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or Tufting Enteropathy (TE)CompletedNCT01114035

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 26)
idTitleAuthorsYear
1
Intractable Diarrhea in Two Brothers: Late Diagnosis of Tufting Enteropathy in Adolescence. (26115750)
2015
2
Tufting Enteropathy Revisited: The Utility of MOC31 (EpCAM) Immunohistochemistry in Diagnosis. (24418860)
2014
3
A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy. (24048167)
2014
4
A Novel Compound-Heterozygous EpCAM Mutation in Tufting Enteropathy. (25383784)
2014
5
Linear growth and circulating insulin-like growth factor-I in children with tufting enteropathy receiving long-term TPN: retraction. (24553474)
2014
6
A rare cause of congenital diarrhea in a Turkish newborn: tufting enteropathy. (25818968)
2014
7
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. (24142340)
2013
8
Absence of cell-surface EpCAM in congenital tufting enteropathy. (23462293)
2013
9
mTrop1/Epcam knockout mice develop congenital tufting enteropathy through dysregulation of intestinal E-cadherin/I^-catenin. (23209569)
2012
10
Linear growth and circulating insulin-like growth factor I in children with tufting enteropathy receiving long-term TPN. (22411267)
2012
11
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf. (21315192)
2011
12
Congenital tufting enteropathy in the era of molecular genetics. (21691225)
2011
13
Intractable diarrhea with tufting enteropathy: a favorable outcome is possible. (21478758)
2011
14
Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy. (20447614)
2010
15
Further evidence for EpCAM as the gene for congenital tufting enteropathy. (20034091)
2010
16
Tufting Enteropathy with EpCAM Mutations in Two Siblings. (20981223)
2010
17
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. (20009592)
2010
18
Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation. (19820410)
2009
19
Identification of EpCAM as the gene for congenital tufting enteropathy. (18572020)
2008
20
A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. (17786112)
2007
21
Tufting enteropathy and skeletal dysplasia: is there a link? (16900309)
2007
22
Intestinal epithelial dysplasia (tufting enteropathy). (17448233)
2007
23
Isolated small bowel transplantation for tufting enteropathy. (12500010)
2003
24
Successful pregnancy outcome in tufting enteropathy. (12500014)
2003
25
Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy). (9287975)
1997
26
Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants. (8057225)
1994

Variations for Tufting Enteropathy

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Clinvar genetic disease variations for Tufting Enteropathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EPCAMNM_002354.2(EPCAM): c.491+1G> Asingle nucleotide variantPathogenicrs606231203GRCh38Chr 2, 47375300: 47375300
2EPCAMNM_002354.2(EPCAM): c.426-1G> Asingle nucleotide variantPathogenicrs373597944GRCh38Chr 2, 47375233: 47375233
3EPCAMNM_002354.2(EPCAM): c.197G> A (p.Cys66Tyr)single nucleotide variantPathogenicrs267606785GRCh37Chr 2, 47600959: 47600959
4EPCAMNM_002354.2(EPCAM): c.499dupC (p.Gln167Profs)duplicationPathogenicrs606231204GRCh38Chr 2, 47377021: 47377021
5EPCAMNM_002354.2(EPCAM): c.556-14A> Gsingle nucleotide variantPathogenicrs376155665GRCh38Chr 2, 47378939: 47378939
6EPCAMNM_002354.2(EPCAM): c.492-2A> Gsingle nucleotide variantPathogenicrs606231281GRCh38Chr 2, 47377012: 47377012
7EPCAMNM_002354.2(EPCAM): c.412C> T (p.Arg138Ter)single nucleotide variantPathogenicrs397514661GRCh37Chr 2, 47601174: 47601174

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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GO Terms for genes affiliated with Tufting Enteropathy

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Sources for Tufting Enteropathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet