MCID: ENT007
MIFTS: 25

Enteropathica

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Enteropathica

MalaCards integrated aliases for Enteropathica:

Name: Enteropathica 20

Classifications:



Summaries for Enteropathica

MalaCards based summary : Enteropathica is related to acrodermatitis enteropathica, zinc-deficiency type and acrodermatitis. An important gene associated with Enteropathica is SLC39A4 (Solute Carrier Family 39 Member 4), and among its related pathways/superpathways is Metal ion SLC transporters. The drug Zinc has been mentioned in the context of this disorder. Affiliated tissues include liver, eye and small intestine, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

Related Diseases for Enteropathica

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

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 acrodermatitis enteropathica, zinc-deficiency type 32.8 SLC39A4 SLC30A4
2 acrodermatitis 30.1 SLC39A4 SLC30A4 PLIN2 OTC ALB
3 maple syrup urine disease 29.7 OTC ALB
4 urea cycle disorder 29.2 OTC ALB
5 phenylketonuria 29.0 OTC ALB
6 zinc deficiency, transient neonatal 11.1
7 glucagonoma 11.0
8 alopecia 10.6
9 diarrhea 10.4
10 autosomal recessive disease 10.4
11 exanthem 10.4
12 cystic fibrosis 10.3
13 dermatitis 10.2
14 anorexia nervosa 10.1
15 skin disease 10.1
16 crohn's disease 10.1
17 ehlers-danlos syndrome, spondylodysplastic type, 3 10.0 SLC39A4 SLC30A4
18 fibrosis of extraocular muscles, congenital, 1 10.0
19 3-methylglutaconic aciduria, type iii 10.0
20 yemenite deaf-blind hypopigmentation syndrome 10.0
21 short bowel syndrome 10.0
22 agammaglobulinemia 10.0
23 epidermolysis bullosa 10.0
24 metal metabolism disorder 9.9 SLC39A4 ALB
25 alcohol dependence 9.9
26 pseudomonilethrix 9.9
27 celiac disease 1 9.9
28 ornithine transcarbamylase deficiency, hyperammonemia due to 9.9
29 fryns microphthalmia syndrome 9.9
30 dermatitis, atopic 9.9
31 propionic acidemia 9.9
32 inflammatory bowel disease 9.9
33 diffuse alopecia areata 9.9
34 organic acidemia 9.9
35 angular cheilitis 9.9
36 pemphigus foliaceus 9.9
37 lactose intolerance 9.9
38 glossitis 9.9
39 methylmalonic acidemia 9.9
40 epidermolysis bullosa dystrophica 9.9
41 acquired immunodeficiency syndrome 9.9
42 pellagra 9.9
43 impetigo 9.9
44 pemphigus 9.9
45 stomatitis 9.9
46 isolated methylmalonic acidemia 9.9
47 placental choriocarcinoma 9.9 PLIN2 ALB
48 alcoholic liver cirrhosis 9.9 PLIN2 ALB
49 down syndrome 9.8
50 vitiligo-associated multiple autoimmune disease susceptibility 6 9.8

Graphical network of the top 20 diseases related to Enteropathica:



Diseases related to Enteropathica

Symptoms & Phenotypes for Enteropathica

MGI Mouse Phenotypes related to Enteropathica:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.55 ALB OTC PLIN2 SLC30A4 SLC39A4
2 homeostasis/metabolism MP:0005376 9.35 ALB OTC PLIN2 SLC30A4 SLC39A4
3 liver/biliary system MP:0005370 8.92 ALB OTC PLIN2 SLC39A4

Drugs & Therapeutics for Enteropathica

Drugs for Enteropathica (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational 7440-66-6 32051

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Study Explanatory Severe Zinc Deficiencies : Multicenter, Genetics, Controlled and Prospective Study Completed NCT02870166

Search NIH Clinical Center for Enteropathica

Genetic Tests for Enteropathica

Anatomical Context for Enteropathica

MalaCards organs/tissues related to Enteropathica:

40
Liver, Eye, Small Intestine, Pancreas, Bone Marrow, Colon, Brain

Publications for Enteropathica

Articles related to Enteropathica:

(show top 50) (show all 770)
# Title Authors PMID Year
1
Transient Symptomatic Zinc Deficiency Resembling Acrodermatitis Enteropathica in a Full-Term Breastfed Infant. 61
33025515 2021
2
Acquired acrodermatitis enteropathica from a ketogenic diet. 61
33665283 2021
3
Acrodermatitis enteropathica in a 3-month-old boy. 61
33593949 2021
4
Acrodermatitis enteropathica-like eruption secondary to vitamin and amino acid deficiencies associated with pancreatic tumour. 61
33461793 2021
5
Acquired Acrodermatitis Enteropathica. 61
33058784 2021
6
Dermatological Manifestations in Inflammatory Bowel Diseases. 61
33477990 2021
7
Acrodermatitis Enteropathica: A Case Report. 61
33274070 2020
8
Alopecia universalis-like hair loss in acrodermatitis enteropathica. 61
32428274 2020
9
Dermatological Manifestations in Pediatric Inflammatory Bowel Disease. 61
32842528 2020
10
Transient Symptomatic Zinc Deficiency in a Breastfed Infant Associated with Low Zinc Levels in Maternal Serum and Breast Milk Improving after Zinc Supplementation: An Uncommon Phenotype? 61
32832457 2020
11
A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency. 61
32278324 2020
12
Acrodermatitis Enteropathica as a Presentation of Cystic Fibrosis in an Infant. 61
32562404 2020
13
Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica. 61
31930626 2020
14
Acrodermatitis Enteropathica. 61
32093930 2020
15
Acrodermatitis enteropathica: a hereditary form of zinc deficiency. 61
32442281 2020
16
Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency. 61
31323123 2020
17
Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature. 61
31987033 2020
18
Elucidating the H+ Coupled Zn2+ Transport Mechanism of ZIP4; Implications in Acrodermatitis Enteropathica. 61
31979155 2020
19
Necrolytic Acral Erythema: Current Insights. 61
32308461 2020
20
Novel nonsense mutation of the SLC39A4 gene in a family with atypical acrodermatitis enteropathica. 61
30980548 2019
21
Image Gallery: Acrodermatitis enteropathica: recurrent flares in adulthood. 61
31368114 2019
22
[Cutaneous manifestations of nutritional deficiencies]. 61
31746568 2019
23
Concurrence of Acrodermatitis Enteropathica and Eczema Herpeticum in a Child with Atopic Dermatitis. 61
31607883 2019
24
Acrodermatitis Enteropathica Associated With Inflammatory Bowel Disease. 61
31750377 2019
25
Acquired Acrodermatitis Enteropathica. 61
31461117 2019
26
Combined zinc and vitamin B6 deficiency in a patient with diffuse red rash and angular cheilitis 6 years after Roux-en-Y gastric bypass. 61
31377720 2019
27
Hypereosinophilic syndrome masquerading as acrodermatitis enteropathica. 61
31172983 2019
28
Acquired acrodermatitis enteropathica due to zinc-depleted parenteral nutrition. 61
31124168 2019
29
The histidine-rich loop in the extracellular domain of ZIP4 binds zinc and plays a role in zinc transport. 61
31164399 2019
30
Zinc and skin: an update. 61
30873720 2019
31
Atomic Absorbance Spectroscopy to Measure Intracellular Zinc Pools in Mammalian Cells. 61
31157776 2019
32
50 Years Ago in The Journal of Pediatrics: Acrodermatitis Enteropathica: Defective Metabolism of Unsaturated Fatty Acids. 61
31027618 2019
33
Quantifying the Oligomeric State of hZIP4 on the Surface of Cells. 61
30874431 2019
34
Biotin Is Required for the Zinc Homeostasis in the Skin. 61
31022908 2019
35
Acquired acrodermatitis enteropathica secondary to sleeve gastrectomy. 61
30688216 2019
36
Zn-DTSM, A Zinc Ionophore with Therapeutic Potential for Acrodermatitis Enteropathica? 61
30669644 2019
37
Acrodermatitis enteropathica: the need for sustained high dose zinc supplementation. 61
30677805 2018
38
Acrodermatitis enteropathica from zinc-deficient total parenteral nutrition. 61
30063773 2018
39
Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation. 61
29881561 2018
40
Acquired bullous acrodermatitis enteropathica as a histologic mimic of pemphigus foliaceus in a patient on parenteral nutrition. 61
30142747 2018
41
ACRODERMATITIS ENTEROPATHICA: CLINICAL MANIFESTATIONS AND PEDIATRIC DIAGNOSIS. 61
29412435 2018
42
Acrodermatitis acidaemica. 61
29336047 2018
43
The Role of the Slc39a Family of Zinc Transporters in Zinc Homeostasis in Skin. 61
29462920 2018
44
Zinc and Skin Disorders. 61
29439479 2018
45
Acrodermatitis Enteropathica Presenting with Recurrent Diarrhea and Vomiting in an Infant Reluctant to Breastfeed, and a Peculiar Erythemato-Eczematous Eruption around the Oral and Anogenital Regions. 61
29989544 2018
46
Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East. 61
30174688 2018
47
Sustained Need for High-Dose Zinc Supplementation in Children With Acrodermatitis Enteropathica. 61
28056538 2018
48
Acrodermatitis enteropathica in a patient with short bowel syndrome. 61
29232432 2017
49
Characterization of zinc amino acid complexes for zinc delivery in vitro using Caco-2 cells and enterocytes from hiPSC. 61
28717982 2017
50
Acquired Acrodermatitis Enteropathica: A Case Study. 61
29152424 2017

Variations for Enteropathica

Expression for Enteropathica

Search GEO for disease gene expression data for Enteropathica.

Pathways for Enteropathica

Pathways related to Enteropathica according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.61 SLC39A4 SLC30A4

GO Terms for Enteropathica

Biological processes related to Enteropathica according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to zinc ion GO:0010043 8.96 SLC30A4 OTC
2 zinc ion transport GO:0006829 8.62 SLC39A4 SLC30A4

Molecular functions related to Enteropathica according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion transmembrane transporter activity GO:0005385 8.62 SLC39A4 SLC30A4

Sources for Enteropathica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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