MCID: ENT007
MIFTS: 39

Enteropathica malady

Rare diseases, Gastrointestinal diseases categories
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Summaries for Enteropathica

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Sources:
65Wikipedia, 33MalaCards
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Wikipedia:65 Acrodermatitis enteropathica is an autosomal recessivemetabolic disorder affecting the uptake of zinc,... more...

MalaCards: Enteropathica is related to acrodermatitis and acrodermatitis enteropathica. An important gene associated with Enteropathica is SLC39A4 (solute carrier family 39 (zinc transporter), member 4), and among its related pathways are Senescence and Autophagy and Metal ion SLC transporters. The compounds urea and valproic acid have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and eye, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

Aliases & Classifications for Enteropathica

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43NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

enteropathica 43


Related Diseases for Enteropathica

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Enteropathica:



Diseases related to enteropathica

Symptoms for Enteropathica

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Drugs & Therapeutics for Enteropathica

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Enteropathica

Search NIH Clinical Center for Enteropathica

Genetic Tests for Enteropathica

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Anatomical Context for Enteropathica

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33MalaCards
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MalaCards organs/tissues related to Enteropathica:

33
Breast, Skin, Eye, Liver, Colon, Pancreas

Animal Models for Enteropathica or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Enteropathica:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.2PLIN2, ALB, SLC39A4, OTC
2MP:00053797.8OTC, SLC39A4, SLC30A4, ALB, PLIN2
3MP:00107717.8PLIN2, SLC39A1, SLC30A4, OTC
4MP:00053767.7OTC, SLC39A4, SLC30A4, ALB, PLIN2
5MP:00053787.3PLIN2, SLC39A1, SLC30A4, SLC39A4, SLC30A5, OTC

Publications for Enteropathica

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52PubMed
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Articles related to Enteropathica:

(show top 50)    (show all 333)
idTitleAuthorsYear
1
A mouse model of acrodermatitis enteropathica: loss of intestine zinc transporter ZIP4 (Slc39a4) disrupts the stem cell niche and intestine integrity. (22737083)
2012
2
Acrodermatitis enteropathica. (22486149)
2012
3
Gray hair and acrodermatitis enteropathica-like dermatitis: an unexpected presentation of cystic fibrosis. (21424670)
2011
4
A case of acrodermatitis enteropathica localized on the hands and feet with a normal serum zinc level. (22028583)
2011
5
Acrodermatitis enteropathica: a review of 29 Tunisian cases. (20883266)
2010
6
Novel proteolytic processing of the ectodomain of the zinc transporter ZIP4 (SLC39A4) during zinc deficiency is inhibited by acrodermatitis enteropathica mutations. (18936158)
2009
7
Acrodermatitis enteropathica in a full-term exclusively breast-fed infant. (18424385)
2008
8
Acrodermatitis enteropathica-like simulating severe atopic dermatitis: a case report. (18680706)
2008
9
Kwashiorkor and an acrodermatitis enteropathica-like eruption after a distal gastric bypass surgical procedure. (17599860)
2007
10
The mouse acrodermatitis enteropathica gene Slc39a4 (Zip4) is essential for early development and heterozygosity causes hypersensitivity to zinc deficiency. (17483098)
2007
11
Acrodermatitis enteropathica-like dermatosis associated with ornithine transcarbamylase deficiency. (17845164)
2007
12
Nutritional zinc deficiency mimicking acrodermatitis enteropathica in a fully breast-fed infant. (17062090)
2006
13
Identification of a unique splice site variant in SLC39A4 in bovine hereditary zinc deficiency, lethal trait A46: An animal model of acrodermatitis enteropathica. (16714095)
2006
14
Acrodermatitis enteropathica-like eruption associated with combined nutritional deficiency. (16224175)
2005
15
Acrodermatitis enteropathica-like eruption as the presenting sign of cystic fibrosis--case report and review of the literature. (12200605)
2002
16
Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. (11254458)
2001
17
The acrodermatitis enteropathica mutation affects protein expression in human fibroblasts: analysis by two-dimensional gel electrophoresis. (9687549)
1998
18
Long chain fatty acids in serum phospholipids in acrodermatitis enteropathica before and after zinc treatment: a case report. (3392358)
1988
19
Childhood acquired immune deficiency syndrome manifesting as acrodermatitis enteropathica. (2936876)
1986
20
Picolinic acid in acrodermatitis enteropathica: evidence for a disorder of tryptophan metabolism. (6694049)
1984
21
Serum and hair zinc as predictors of clinical symptoms in acrodermatitis enteropathica. (6429442)
1984
22
The effects of diet and zinc treatment on the fatty acid composition of serum lipids and adipose tissue and on serum lipoproteins in two adolescent patients with acrodermatitis enteropathica. (6624693)
1983
23
Maternal essential fatty acid supplementation increases zinc absorption in neonatal rats: relevance to the defect in zinc absorption in acrodermatitis enteropathica. (7110781)
1982
24
Percutaneous absorption of zinc in acrodermatitis enteropathica. (7333397)
1981
25
Is acrodermatitis enteropathica related to the absence of zinc binding ligand in bovine milk? (570352)
1979
26
Acrodermatitis enteropathica, immunodeficiency, and zinc. (630912)
1978
27
Zinc therapy of acrodermatitis enteropathica. (659045)
1978
28
Acrodermatitis enteropathica--a zinc deficiency state. (675401)
1978
29
Animal model of human disease. Acrodermatitis enteropathica, zinc malabsorption. (559415)
1977
30
Acrodermatitis enteropathica, zinc, and the Paneth cell. A case report with family studies. (196972)
1977
31
Letter: Plasma-zinc in acrodermatitis enteropathica. (55755)
1976
32
Gluconate zinc in acrodermatitis enteropathica. (773310)
1976
33
Letter: Acrodermatitis enteropathica and cellular immune deficiency. (57499)
1976
34
Treatment of acrodermatitis enteropathica with zinc sulfate. (776091)
1976
35
Reversible intestinal mucosal abnormality in acrodermatitis enteropathica. (952555)
1976
36
Letter: Exacerbation of acrodermatitis enteropathica by soya-bean milk feeding. (52794)
1975
37
Letter: Increased copper/zinc ratios in acrodermatitis enteropathica. (48820)
1975
38
Determination of oxyquinoline concentrations in plasma in a patient treated for acrodermatitis enteropathica--an aid in therapeutic control. (4426461)
1974
39
Tryptophan metabolsim and serum fatty acids in acrodermatitis enteropathica. (4407531)
1974
40
Ultrastructural findings in acrodermatitis enteropathica. (4359206)
1974
41
Agammaglobulinemia with B lymphocytes in a neonate with acrodermatitis enteropathica. (4546718)
1974
42
Metabolic changes in acrodermatitis enteropathica. (4599862)
1974
43
Zinc deficiency in acrodermatitis enteropathica: multiple dietary intolerance treated with synthetic diet. (4577330)
1973
44
Acrodermatitis enteropathica with lactose intolerance. (5085934)
1972
45
Acrodermatitis enteropathica. (4572293)
1972
46
Acrodermatitis enteropathica. (5113595)
1971
47
Acrodermatitis enteropathica. (4918455)
1969
48
Acrodermatitis enteropathica. (4229461)
1967
49
Acrodermatitis enteropathica. Report of a case in a twin with dramatic response to expressed human milk. (5318960)
1965
50
Eye symptoms in Acromdermatitis enteropathica. A description of a brother and sister, with corneal changes. (14001285)
1962

Variations for Enteropathica

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Expression for genes affiliated with Enteropathica

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Enteropathica

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Pathways for genes affiliated with Enteropathica

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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome
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Pathways related to Enteropathica according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SLC39A4, SLC39A1
2
Show member pathways
8.8SLC30A5, SLC39A4, SLC39A1, SLC39A5
3
Show member pathways
8.3ALB, SLC39A5, SLC39A1, SLC39A4, SLC30A5

Compounds for genes affiliated with Enteropathica

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB, 29IUPHAR
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Compounds related to Enteropathica according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1urea45 24 1111.5OTC, ALB
2valproic acid45 51 24 1112.4OTC, ALB
3carnitine459.3PLIN2, OTC
4oleic acid45 29 24 1112.2ALB, PLIN2
5acyl-coa459.2OTC, PLIN2
6rosiglitazone29 45 51 24 1112.8ALB, PLIN2
7fatty acid458.8PLIN2, ALB, OTC
8zinc45 249.8SLC30A5, SLC39A4, SLC30A4, SLC39A1

GO Terms for genes affiliated with Enteropathica

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16Gene Ontology
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Biological processes related to Enteropathica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular response to zinc ion starvationGO:0342249.8SLC39A5, SLC39A4
2cellular zinc ion homeostasisGO:0068829.6SLC30A5, SLC39A4
3response to zinc ionGO:0100439.6OTC, SLC30A5
4zinc ion transportGO:0068299.4SLC30A5, SLC39A5
5zinc ion transmembrane transportGO:0715779.0SLC30A5, SLC30A4, SLC39A1
6transmembrane transportGO:0550858.4SLC30A5, SLC39A4, SLC39A1, SLC39A5, ALB

Molecular functions related to Enteropathica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1zinc ion transmembrane transporter activityGO:0053858.6SLC30A5, SLC39A4, SLC30A4, SLC39A1

Products for genes affiliated with Enteropathica

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Sources for Enteropathica

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet