MCID: TFT003
MIFTS: 25

Tufting Enteropathy malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Tufting Enteropathy

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 92050
ICD10 via Orphanet28 P78.3
UMLS65 C1334229

Summaries for Tufting Enteropathy

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MalaCards based summary: Tufting Enteropathy, also known as intestinal epithelial dysplasia, 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). Affiliated tissues include brain, colon and breast.

Related Diseases for Tufting Enteropathy

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Diseases related to Tufting Enteropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 221)
idRelated DiseaseScoreTop Affiliating Genes
1diarrhea 5, with tufting enteropathy, congenital12.8
2mitochondrial complex i deficiency12.5
3tyrosinemia, type i12.5
4trichorhinophalangeal syndrome, type i12.4
5microcephalic osteodysplastic primordial dwarfism, type i12.4
6pseudohypoaldosteronism, type i12.4
7carbamoylphosphate synthetase i deficiency12.4
8orofaciodigital syndrome i12.4
9glutaricaciduria, type i12.3
10insulin-like growth factor i12.3
11corneal dystrophy, lattice type i12.3
12bipolar i disorder12.3
133-methylglutaconic aciduria, type i12.3
14autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia12.3
15complement factor i deficiency12.3
16crigler-najjar syndrome, type i12.3
17c8 deficiency, type i12.3
18mhc class i deficiency12.3
19osteogenesis imperfecta, type i12.3
20bare lymphocyte syndrome, type i12.3
21hypoaldosteronism, congenital, due to cmo i deficiency12.3
22congenital enteropathy due to enteropeptidase deficiency12.3
23cataract 13 with adult i phenotype12.3
24thanatophoric dysplasia, type i12.3
25xanthinuria, type i12.3
26methemoglobinemia, type i12.3
27sialidosis, type i12.3
28schindler disease, type i12.3
29gaucher disease, type i12.3
30pseudohypoaldosteronism type i, autosomal dominant12.3
31fanconi anemia, complementation group i12.3
32plasminogen deficiency, type i12.2
33neuronopathy, distal hereditary motor, type i12.2
34stickler syndrome, type i12.2
35mannosidosis, alpha-, types i and ii12.2
36gm1-gangliosidosis, type i12.2
37ocular albinism, type i, nettleship-falls type12.2
38gtp cyclohydrolase i deficiency12.2
39adult i phenotype without cataract12.2
40mitochondrial complex i deficiency due to acad9 deficiency12.2
41dentin dysplasia, type i, with microdontia and misshapen teeth12.2
42keratosis palmoplantaris striata i, ad12.2
43angioedema, hereditary, types i and ii12.2
44mucopolysaccharidosis is12.2
45corneal dystrophy, groenouw type i12.2
46otopalatodigital syndrome, type i12.2
47atelosteogenesis, type i12.1
48hyperprolinemia, type i12.1
49opitz gbbb syndrome, type i12.1
50atypical hemolytic-uremic syndrome with i factor anomaly12.1

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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MalaCards organs/tissues related to Tufting Enteropathy:

33
Brain, Colon, Breast, Prostate, Olfactory bulb

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
The enzyme activities of Caf1 and Ccr4 are both required for deadenylation by the human Ccr4-Not nuclease module. (25944446)
2015
2
Beneficial effects of intravenous beta-blockers in Tako-Tsubo syndrome with dynamic left ventricular outflow tract obstruction and severe haemodynamic impairment. (25449492)
2014
3
Using spectralis and stratus optical coherence tomography devices to analyze the retinal nerve fiber layer in patients with open-angle glaucoma - preliminary report. (24431312)
2013
4
Service delivery for people with hereditary spastic paraparesis living in the South West of England. (23944176)
2013
5
Manganese superoxide dismutase dimorphism relationship with severity and prognosis in cardiogenic shock due to dilated cardiomyopathy. (21062213)
2011
6
Rearrangements of the RAF kinase pathway in prostate cancer, gastric cancer and melanoma. (20526349)
2010
7
Identification and functional characterization of microRNAs involved in the malignant progression of gliomas. (19775293)
2010
8
RuvB-like protein 2 is a suppressor of influenza A virus polymerases. (19369355)
2009
9
Pyomyositis in children: early diagnosis and treatment. (19944229)
2009
10
Evaluation of two different epidural catheters in clinical practice. narrowing down the incidence of paresthesia! (17710897)
2007
11
Solitary adrenal metastasis in a patient with sigmoid colon cancer; report of a case. (18175226)
2006
12
Prevalence of zinc deficiency and immune response in short-term hemodialysis. (15966573)
2005
13
Coronally positioned flap procedures with or without a biodegradable membrane in the treatment of human gingival recession. A 6-year follow-up study. (15842269)
2005
14
Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity? (15150785)
2004
15
Oral pyogenic granuloma in Jordanians: a retrospective analysis of 108 cases. (14613084)
2003
16
Clinical utility of telomerase in cancer. (11850791)
2002
17
The Ras/p120 GTPase-activating protein (GAP) interaction is regulated by the p120 GAP pleckstrin homology domain. (10954709)
2000
18
gamma-aminobutyric acid mimetic drugs differentially inhibit the dopaminergic response to cocaine. (10794818)
2000
19
Laryngeal papillomatosis presenting as acute airway obstruction in a child. (10608332)
1999
20
Development of hyperandrogenism during treatment with insulin-like growth factor-I (IGF-I) in female patients with Laron syndrome. (9509072)
1998
21
Cell cycle-dependent expression of TAP1, TAP2, and HLA-B27 messenger RNAs in a human breast cancer cell line. (8813124)
1996
22
Cyclosporine A upregulates platelet-derived growth factor B chain in hyperplastic human gingiva. (8708960)
1996
23
Brain natriuretic peptide and fluid volume homeostasis--studies during cardiopulmonary bypass surgery. (8292884)
1993
24
Adenosquamous carcinoma of the ileum--a case report. (8266218)
1993
25
Association of Down syndrome and segmental tracheal stenosis with ring tracheal cartilages: a review of nine cases. (1437879)
1992
26
RELEASE OF A KININ PEPTIDE IN THE CARCINOID SYNDROME. (14100182)
1964

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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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