MCID: TFT003
MIFTS: 17

Tufting Enteropathy malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Tufting Enteropathy

About this section

Aliases & Descriptions for Tufting Enteropathy:

Name: Tufting Enteropathy 46
Congenital Familial Intractable Diarrhea with Enterocytes Assembly Abnormalities 46
Intestinal Intraepithelial Neoplasia 66
 
Intestinal Epithelial Dysplasia 46
Congenital Enteropathy 46
Ied 46

Classifications:



Summaries for Tufting Enteropathy

About this section
MalaCards based summary: Tufting Enteropathy, also known as congenital familial intractable diarrhea with enterocytes assembly abnormalities, is related to diarrhea 5, with tufting enteropathy, congenital and mitochondrial complex i deficiency. An important gene associated with Tufting Enteropathy is EPCAM (Epithelial Cell Adhesion Molecule).

Related Diseases for Tufting Enteropathy

About this section

Graphical network of diseases related to Tufting Enteropathy:



Diseases related to tufting enteropathy

Symptoms for Tufting Enteropathy

About this section

Drugs & Therapeutics for Tufting Enteropathy

About this section

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

About this section

Anatomical Context for Tufting Enteropathy

About this section

Animal Models for Tufting Enteropathy or affiliated genes

About this section

Publications for Tufting Enteropathy

About this section

Articles related to Tufting Enteropathy:

(show all 28)
idTitleAuthorsYear
1
Genetic analysis of Italian patients with congenital tufting enteropathy. (26684320)
2016
2
Congenital tufting enteropathy and chronic arthritis: a clinical and radiological perspective. (27558188)
2016
3
Intractable Diarrhea in Two Brothers: Late Diagnosis of Tufting Enteropathy in Adolescence. (26115750)
2015
4
Tufting Enteropathy Revisited: The Utility of MOC31 (EpCAM) Immunohistochemistry in Diagnosis. (24418860)
2014
5
A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy. (24048167)
2014
6
A Novel Compound-Heterozygous EpCAM Mutation in Tufting Enteropathy. (25383784)
2014
7
Linear growth and circulating insulin-like growth factor-I in children with tufting enteropathy receiving long-term TPN: retraction. (24553474)
2014
8
A rare cause of congenital diarrhea in a Turkish newborn: tufting enteropathy. (25818968)
2014
9
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. (24142340)
2013
10
Absence of cell-surface EpCAM in congenital tufting enteropathy. (23462293)
2013
11
Linear growth and circulating insulin-like growth factor I in children with tufting enteropathy receiving long-term TPN. (22411267)
2012
12
mTrop1/Epcam knockout mice develop congenital tufting enteropathy through dysregulation of intestinal E-cadherin/I^-catenin. (23209569)
2012
13
Congenital tufting enteropathy in the era of molecular genetics. (21691225)
2011
14
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf. (21315192)
2011
15
Intractable diarrhea with tufting enteropathy: a favorable outcome is possible. (21478758)
2011
16
Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy. (20447614)
2010
17
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. (20009592)
2010
18
Further evidence for EpCAM as the gene for congenital tufting enteropathy. (20034091)
2010
19
Tufting Enteropathy with EpCAM Mutations in Two Siblings. (20981223)
2010
20
Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation. (19820410)
2009
21
Identification of EpCAM as the gene for congenital tufting enteropathy. (18572020)
2008
22
A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. (17786112)
2007
23
Tufting enteropathy and skeletal dysplasia: is there a link? (16900309)
2007
24
Intestinal epithelial dysplasia (tufting enteropathy). (17448233)
2007
25
Successful pregnancy outcome in tufting enteropathy. (12500014)
2003
26
Isolated small bowel transplantation for tufting enteropathy. (12500010)
2003
27
Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy). (9287975)
1997
28
Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants. (8057225)
1994

Variations for Tufting Enteropathy

About this section

Expression for genes affiliated with Tufting Enteropathy

About this section
Search GEO for disease gene expression data for Tufting Enteropathy.

Pathways for genes affiliated with Tufting Enteropathy

About this section

GO Terms for genes affiliated with Tufting Enteropathy

About this section

Sources for Tufting Enteropathy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet