AEZ
MCID: ACR003
MIFTS: 49

Acrodermatitis Enteropathica (AEZ) malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Skin diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Acrodermatitis Enteropathica

Aliases & Descriptions for Acrodermatitis Enteropathica:

Name: Acrodermatitis Enteropathica 54 12 50 56 13 52 14 69
Aez 50 24 56 66
Acrodermatitis Enteropathica, Zinc-Deficiency Type 54 24 66
Ae 50 56
Acrodermatitis Enteropathica Zinc Deficiency Type 50
Inherited Zinc Deficiency 56
Danbolt-Cross Syndrome 50
Brandt Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
acrodermatitis enteropathica
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

HPO:

32
acrodermatitis enteropathica:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 201100
Disease Ontology 12 DOID:0050605
Orphanet 56 ORPHA37
ICD10 via Orphanet 34 E83.2
MedGen 40 C0221036
MeSH 42 D000169

Summaries for Acrodermatitis Enteropathica

NIH Rare Diseases : 50 acrodermatitis enteropathica (ae) is a disorder of zinc metabolism that can either be inherited or acquired. both forms lead to the inability to absorb zinc from the intestine. the lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). irritability and emotional disturbances can also occur. the inherited form is caused by mutations in the slc39a4 gene and inherited in an autosomal recessive pattern. the acquired form can result from diets lacking the appropriate amount of zinc. supplemental zinc usually eliminates the symptoms of acrodermatitis enteropathica. last updated: 11/9/2011

MalaCards based summary : Acrodermatitis Enteropathica, also known as aez, is related to enteropathica and acrodermatitis, and has symptoms including photophobia, dry skin and emotional lability. An important gene associated with Acrodermatitis Enteropathica is SLC39A4 (Solute Carrier Family 39 Member 4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Metal ion SLC transporters. The drug Zinc has been mentioned in the context of this disorder. Affiliated tissues include skin, breast and tongue, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

UniProtKB/Swiss-Prot : 66 Acrodermatitis enteropathica, zinc-deficiency type: A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune- system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders.

Wikipedia : 71 Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc,... more...

Description from OMIM: 201100

Related Diseases for Acrodermatitis Enteropathica

Graphical network of the top 20 diseases related to Acrodermatitis Enteropathica:



Diseases related to Acrodermatitis Enteropathica

Symptoms & Phenotypes for Acrodermatitis Enteropathica

Symptoms by clinical synopsis from OMIM:

201100

Clinical features from OMIM:

201100

Human phenotypes related to Acrodermatitis Enteropathica:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 56 32 Frequent (79-30%) HP:0000613
2 dry skin 56 32 Very frequent (99-80%) HP:0000958
3 emotional lability 56 32 Frequent (79-30%) HP:0000712
4 failure to thrive 56 32 Frequent (79-30%) HP:0001508
5 malabsorption 56 32 Very frequent (99-80%) HP:0002024
6 visual impairment 56 32 Occasional (29-5%) HP:0000505
7 short stature 56 32 Very frequent (99-80%) HP:0004322
8 abnormal blistering of the skin 56 32 Very frequent (99-80%) HP:0008066
9 weight loss 56 32 Occasional (29-5%) HP:0001824
10 corneal erosion 56 32 Occasional (29-5%) HP:0200020
11 skin ulcer 56 32 Frequent (79-30%) HP:0200042
12 anorexia 56 32 Occasional (29-5%) HP:0002039
13 cerebral cortical atrophy 56 32 Very frequent (99-80%) HP:0002120
14 abnormality of the eyebrow 56 32 Very frequent (99-80%) HP:0000534
15 blepharitis 56 32 Frequent (79-30%) HP:0000498
16 cheilitis 56 32 Frequent (79-30%) HP:0100825
17 erythema 56 32 Very frequent (99-80%) HP:0010783
18 conjunctivitis 56 32 Frequent (79-30%) HP:0000509
19 alopecia 56 32 Very frequent (99-80%) HP:0001596
20 chronic diarrhea 56 32 Very frequent (99-80%) HP:0002028
21 furrowed tongue 56 32 Frequent (79-30%) HP:0000221
22 ridged nail 56 32 Frequent (79-30%) HP:0001807
23 ridged fingernail 56 32 Frequent (79-30%) HP:0008402
24 glossitis 56 32 Frequent (79-30%) HP:0000206
25 pustule 56 32 Very frequent (99-80%) HP:0200039
26 paronychia 56 32 Frequent (79-30%) HP:0001818
27 poor appetite 56 32 Occasional (29-5%) HP:0004396
28 ataxia 32 HP:0001251
29 tremor 32 HP:0001337
30 diarrhea 32 HP:0002014
31 lethargy 32 HP:0001254
32 splenomegaly 32 HP:0001744
33 hepatomegaly 32 HP:0002240
34 generalized abnormality of skin 56 Very frequent (99-80%)
35 abnormality of the nail 56 Frequent (79-30%)
36 irritability 32 HP:0000737
37 hypogonadism 32 HP:0000135
38 abnormality of the eyelid 56 Very frequent (99-80%)
39 decreased testicular size 32 HP:0008734
40 impaired t cell function 32 HP:0005435
41 abnormality of the tongue 56 Frequent (79-30%)
42 decreased testosterone in males 32 HP:0008230
43 alopecia of scalp 32 HP:0002293
44 decreased taste sensation 32 HP:0000224
45 recurrent candida infections 32 HP:0005401
46 low alkaline phosphatase 32 HP:0003282

UMLS symptoms related to Acrodermatitis Enteropathica:


cerebellar ataxia, diarrhea, tremor

MGI Mouse Phenotypes related to Acrodermatitis Enteropathica:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.73 ALB OTC PLIN2 SLC30A4 SLC39A4 SLC39A5
2 homeostasis/metabolism MP:0005376 9.63 ALB OTC PLIN2 SLC30A4 SLC39A4 SLC39A5
3 liver/biliary system MP:0005370 9.35 SLC39A5 ALB OTC PLIN2 SLC39A4
4 obsolete other MP:0005395 8.62 SLC30A4 SLC39A4

Drugs & Therapeutics for Acrodermatitis Enteropathica

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved 7440-66-6 32051 23994

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Study of Severe Zinc Deficiencies Completed NCT02870166

Search NIH Clinical Center for Acrodermatitis Enteropathica

Genetic Tests for Acrodermatitis Enteropathica

Genetic tests related to Acrodermatitis Enteropathica:

id Genetic test Affiliating Genes
1 Acrodermatitis Enteropathica, Zinc-Deficiency Type 24 SLC39A4

Anatomical Context for Acrodermatitis Enteropathica

MalaCards organs/tissues related to Acrodermatitis Enteropathica:

39
Skin, Breast, Tongue, T Cells, Kidney, Colon, Pancreas

Publications for Acrodermatitis Enteropathica

Articles related to Acrodermatitis Enteropathica:

(show top 50) (show all 363)
id Title Authors Year
1
Sustained Need for High-Dose Zinc Supplementation in Children With Acrodermatitis Enteropathica. ( 28056538 )
2017
2
Acquired Acrodermatitis Enteropathica Syndrome in a Kidney Transplant Receipt: A Case Report. ( 28340843 )
2017
3
Adult autoimmune enteropathy presenting initially with acquired Acrodermatitis Enteropathica: a case report. ( 28521835 )
2017
4
First report of SLC39A4 mutation in acrodermatitis enteropathica family from the Middle East. ( 28188634 )
2017
5
An acrodermatitis enteropathica-associated Zn transporter, ZIP4, regulates human epidermal homeostasis. ( 27940220 )
2016
6
Isoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica. ( 27567652 )
2016
7
Acrodermatitis enteropathica in a pair of twins. ( 28435477 )
2016
8
Acrodermatitis enteropathica: A novel mutation of the SLC39A4 gene in a Turkish boy. ( 26916651 )
2016
9
Acquired acrodermatitis enteropathica after gastric bypass surgery responsive to IV supplementation. ( 28329567 )
2016
10
Acrodermatitis Enteropathica: A Case Report. ( 27196457 )
2016
11
Acquired acrodermatitis enteropathica as a presenting sign of celiac disease. ( 27222886 )
2016
12
Severe acquired acrodermatitis enteropathica caused by anorexia nervosa. ( 26661624 )
2016
13
Acrodermatitis enteropathica in an adult. ( 26244999 )
2015
14
Bullous acrodermatitis enteropathica: case report of a unique clinical presentation and review of the literature. ( 25933075 )
2015
15
Genetic causes and genea89nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples. ( 25468189 )
2015
16
Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels. ( 25780817 )
2015
17
Celiac Disease Presenting With Acquired Acrodermatitis Enteropathica. ( 26465901 )
2015
18
Phrynoderm und erworbene Acrodermatitis enteropathica bei stillenden Frauen nach bariatrischer Chirurgie. ( 26513074 )
2015
19
Acrodermatitis enteropathica in an infant with normal zinc levels. ( 25566908 )
2015
20
Phrynoderma and acquired acrodermatitis enteropathica in breastfeeding women after bariatric surgery. ( 26513075 )
2015
21
Acrodermatitis enteropathica and other nutritional diseases of the folds (intertriginous areas). ( 26051055 )
2015
22
Clinical utility gene card for: acrodermatitis enteropathica - update 2015. ( 26443269 )
2015
23
Identification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica. ( 26351177 )
2015
24
Development of a plasma zinc concentration cutoff to identify individuals with severe zinc deficiency based on results from adults undergoing experimental severe dietary zinc restriction and individuals with acrodermatitis enteropathica. ( 24850624 )
2014
25
Cow's Milk Protein Allergy Mimicking Acrodermatitis Enteropathica. ( 24783119 )
2014
26
One recurrent homozygous mutation of SLC39A4 in a girl with acrodermatitis enteropathica from southwestern China. ( 24962159 )
2014
27
Images in clinical medicine. Acquired acrodermatitis enteropathica. ( 24988559 )
2014
28
Secondary acrodermatitis enteropathica-like lesions in a child with newly diagnosed coeliac disease. ( 25540873 )
2014
29
Images in emergency medicine. Child with diarrhea and rash. Acrodermatitis enteropathica. ( 24054094 )
2013
30
Transient symptomatic zinc deficiency resembling acrodermatitis enteropathica in a breast-fed premature infant: case report and brief review of the literature. ( 24442054 )
2013
31
Clioquinol synergistically augments rescue by zinc supplementation in a mouse model of acrodermatitis enteropathica. ( 24015258 )
2013
32
Periorificial dermatitis and erosive inguinal plaques in a 57-year-old woman. Acquired zinc deficiency acrodermatitis enteropathica (ADE). ( 23552816 )
2013
33
Acrodermatitis enteropathica-like skin lesions in a neonate. ( 23814231 )
2013
34
Acrodermatitis enteropathica in three siblings. ( 23442482 )
2013
35
Acrodermatitis enteropathica. ( 22486149 )
2012
36
Clinical utility gene card for: acrodermatitis enteropathica. ( 22166942 )
2012
37
A mouse model of acrodermatitis enteropathica: loss of intestine zinc transporter ZIP4 (Slc39a4) disrupts the stem cell niche and intestine integrity. ( 22737083 )
2012
38
Think zinc deficiency: acquired acrodermatitis enteropathica due to poor diet and common medications. ( 22911205 )
2012
39
A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene. ( 23430849 )
2012
40
Acrodermatitis enteropathica during adequate enteral nutrition. ( 22038206 )
2012
41
Two compound heterozygous novel SLC39A4 mutations in generalized eczematoid acrodermatitis enteropathica. ( 23228939 )
2012
42
Acrodermatitis enteropathica: a novel SLC39A4 gene mutation found in a patient with an early-onset. ( 21906148 )
2011
43
Acrodermatitis enteropathica variant with borderline plasma zinc concentrations. ( 21502834 )
2011
44
Novel SLC39A4 mutation in acrodermatitis enteropathica. ( 22082465 )
2011
45
Development of Bullous Acrodermatitis Enteropathica during the Course of Chemotherapy for Acute Lymphocytic Leukemia. ( 22346269 )
2011
46
A case of acrodermatitis enteropathica localized on the hands and feet with a normal serum zinc level. ( 22028583 )
2011
47
Gray hair and acrodermatitis enteropathica-like dermatitis: an unexpected presentation of cystic fibrosis. ( 21424670 )
2011
48
Acrodermatitis enteropathica in a 9 month old infant. ( 21598821 )
2011
49
Acrodermatitis enteropathica: an uncommon differential diagnosis in childhood - first description of a new sequence variant. ( 21762381 )
2011
50
One novel homozygous mutation of SLC39A4 gene in a Chinese patient with acrodermatitis enteropathica. ( 20300938 )
2010

Variations for Acrodermatitis Enteropathica

UniProtKB/Swiss-Prot genetic disease variations for Acrodermatitis Enteropathica:

66
id Symbol AA change Variation ID SNP ID
1 SLC39A4 p.Arg95Cys VAR_023629
2 SLC39A4 p.Asn106Lys VAR_023630
3 SLC39A4 p.Pro200Leu VAR_023632
4 SLC39A4 p.Gln303His VAR_023634
5 SLC39A4 p.Gly330Asp VAR_023636
6 SLC39A4 p.Val372Pro VAR_023638
7 SLC39A4 p.Gly374Arg VAR_023639
8 SLC39A4 p.Gly526Arg VAR_023641
9 SLC39A4 p.Gly630Arg VAR_023642

ClinVar genetic disease variations for Acrodermatitis Enteropathica:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC39A4 SLC39A4, 5-BP DEL deletion Pathogenic
2 SLC39A4 SLC39A4, 4-BP DEL deletion Pathogenic
3 SLC39A4 SLC39A4, IVS1AS, G-A, -19 single nucleotide variant Pathogenic
4 SLC39A4 NM_130849.3(SLC39A4): c.599C> T (p.Pro200Leu) single nucleotide variant Pathogenic rs121434287 GRCh37 Chromosome 8, 145640679: 145640679
5 SLC39A4 NM_130849.3(SLC39A4): c.1576G> A (p.Gly526Arg) single nucleotide variant Pathogenic rs121434288 GRCh37 Chromosome 8, 145638672: 145638672
6 SLC39A4 NM_130849.3(SLC39A4): c.1120G> A (p.Gly374Arg) single nucleotide variant Pathogenic rs121434289 GRCh37 Chromosome 8, 145639675: 145639675
7 SLC39A4 NM_130849.3(SLC39A4): c.318C> A (p.Asn106Lys) single nucleotide variant Pathogenic rs121434290 GRCh37 Chromosome 8, 145641350: 145641350
8 SLC39A4 SLC39A4, 2-KB DEL, UPSTREAM REGION deletion Pathogenic
9 SLC39A4 NM_130849.3(SLC39A4): c.989G> A (p.Gly330Asp) single nucleotide variant Pathogenic rs121434291 GRCh37 Chromosome 8, 145639806: 145639806
10 SLC39A4 SLC39A4, 53-BP INS, NT1017 insertion Pathogenic
11 SLC39A4 NM_130849.3(SLC39A4): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic rs121434292 GRCh37 Chromosome 8, 145641385: 145641385
12 SLC39A4 NM_130849.3(SLC39A4): c.909G> C (p.Gln303His) single nucleotide variant Pathogenic rs121434293 GRCh37 Chromosome 8, 145640176: 145640176

Expression for Acrodermatitis Enteropathica

Search GEO for disease gene expression data for Acrodermatitis Enteropathica.

Pathways for Acrodermatitis Enteropathica

GO Terms for Acrodermatitis Enteropathica

Cellular components related to Acrodermatitis Enteropathica according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 late endosome GO:0005770 8.62 SLC30A2 SLC30A4

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.88 ALB SLC30A2 SLC30A4 SLC39A4 SLC39A5
2 ion transport GO:0006811 9.73 SLC30A2 SLC30A4 SLC39A4 SLC39A5
3 transmembrane transport GO:0055085 9.67 SLC30A2 SLC30A4 SLC39A4 SLC39A5
4 cation transmembrane transport GO:0098655 9.51 SLC30A2 SLC30A4
5 cation transport GO:0006812 9.49 SLC30A2 SLC30A4
6 metal ion transport GO:0030001 9.46 SLC39A4 SLC39A5
7 zinc II ion transmembrane transport GO:0071577 9.4 SLC30A2 SLC30A4
8 cellular zinc ion homeostasis GO:0006882 9.32 SLC39A4 SLC39A5
9 zinc II ion transmembrane import GO:0071578 9.26 SLC39A4 SLC39A5
10 cellular response to zinc ion starvation GO:0034224 9.16 SLC39A4 SLC39A5
11 response to zinc ion GO:0010043 9.13 OTC SLC30A2 SLC30A4
12 zinc II ion transport GO:0006829 8.92 SLC30A2 SLC30A4 SLC39A4 SLC39A5

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

id Name GO ID Score Top Affiliating Genes
1 cation transmembrane transporter activity GO:0008324 9.16 SLC30A2 SLC30A4
2 metal ion transmembrane transporter activity GO:0046873 8.96 SLC39A4 SLC39A5
3 zinc ion transmembrane transporter activity GO:0005385 8.92 SLC30A2 SLC30A4 SLC39A4 SLC39A5

Sources for Acrodermatitis Enteropathica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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