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

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Aliases & Descriptions for Acrodermatitis Enteropathica:

Name: Acrodermatitis Enteropathica 52 11 48 54 12 50 13 68
Aez 48 24 54 70
Acrodermatitis Enteropathica, Zinc-Deficiency Type 52 24 70
Ae 48 54
 
Acrodermatitis Enteropathica Zinc Deficiency Type 48
Inherited Zinc Deficiency 54
Danbolt-Cross Syndrome 48
Brandt Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
acrodermatitis enteropathica:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

64
acrodermatitis enteropathica:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 201100
Disease Ontology11 DOID:0050605
Orphanet54 ORPHA37
ICD10 via Orphanet31 E83.2
MedGen37 C0221036
MeSH39 D000169

Summaries for Acrodermatitis Enteropathica

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NIH Rare Diseases:48 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 acrodermatitis and enteropathica, and has symptoms including cerebellar ataxia, diarrhea and tremor. An important gene associated with Acrodermatitis Enteropathica is SLC39A4 (Solute Carrier Family 39 Member 4), and among its related pathways are Metal ion SLC transporters and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include skin, breast and tongue, and related mouse phenotypes are obsolete other and liver/biliary system.

UniProtKB/Swiss-Prot:70 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:52 201100

Related Diseases for Acrodermatitis Enteropathica

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



Diseases related to acrodermatitis enteropathica

Symptoms & Phenotypes for Acrodermatitis Enteropathica

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Symptoms by clinical synopsis from OMIM:

201100

Clinical features from OMIM:

201100

Human phenotypes related to Acrodermatitis Enteropathica:

 54 64 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the tongue54 Frequent (79-30%)
2 glossitis64 54 Frequent (79-30%) HP:0000206
3 furrowed tongue64 54 Frequent (79-30%) HP:0000221
4 abnormality of the eyelid54 Very frequent (99-80%)
5 blepharitis64 54 Frequent (79-30%) HP:0000498
6 visual impairment64 54 Occasional (29-5%) HP:0000505
7 conjunctivitis64 54 Frequent (79-30%) HP:0000509
8 abnormality of the eyebrow64 54 Very frequent (99-80%) HP:0000534
9 photophobia64 54 Frequent (79-30%) HP:0000613
10 emotional lability64 54 Frequent (79-30%) HP:0000712
11 dry skin64 54 Very frequent (99-80%) HP:0000958
12 failure to thrive64 54 Frequent (79-30%) HP:0001508
13 alopecia64 54 Very frequent (99-80%) HP:0001596
14 abnormality of the nail54 Frequent (79-30%)
15 ridged nail64 54 Frequent (79-30%) HP:0001807
16 paronychia64 54 Frequent (79-30%) HP:0001818
17 weight loss64 54 Occasional (29-5%) HP:0001824
18 malabsorption64 54 Very frequent (99-80%) HP:0002024
19 chronic diarrhea64 54 Very frequent (99-80%) HP:0002028
20 anorexia64 54 Occasional (29-5%) HP:0002039
21 cerebral cortical atrophy64 54 Very frequent (99-80%) HP:0002120
22 short stature64 54 Very frequent (99-80%) HP:0004322
23 poor appetite64 54 Occasional (29-5%) HP:0004396
24 abnormal blistering of the skin64 54 Very frequent (99-80%) HP:0008066
25 ridged fingernail64 54 Frequent (79-30%) HP:0008402
26 erythema64 54 Very frequent (99-80%) HP:0010783
27 generalized abnormality of skin54 Very frequent (99-80%)
28 cheilitis64 54 Frequent (79-30%) HP:0100825
29 corneal erosion64 54 Occasional (29-5%) HP:0200020
30 pustule64 54 Very frequent (99-80%) HP:0200039
31 skin ulcer64 54 Frequent (79-30%) HP:0200042
32 hypogonadism64 HP:0000135
33 decreased taste sensation64 HP:0000224
34 irritability64 HP:0000737
35 ataxia64 HP:0001251
36 lethargy64 HP:0001254
37 tremor64 HP:0001337
38 splenomegaly64 HP:0001744
39 diarrhea64 HP:0002014
40 hepatomegaly64 HP:0002240
41 alopecia of scalp64 HP:0002293
42 low alkaline phosphatase64 HP:0003282
43 recurrent candida infections64 HP:0005401
44 impaired t cell function64 HP:0005435
45 decreased testosterone in males64 HP:0008230
46 decreased testicular size64 HP:0008734

UMLS symptoms related to Acrodermatitis Enteropathica:


cerebellar ataxia, diarrhea, tremor

MGI Mouse Phenotypes related to Acrodermatitis Enteropathica according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.7SLC30A4, SLC39A4
2MP:00053708.4ALB, OTC, PLIN2, SLC39A4, SLC39A5
3MP:00053798.4ALB, OTC, PLIN2, SLC30A4, SLC39A4, SLC39A5
4MP:00053768.3ALB, OTC, PLIN2, SLC30A4, SLC39A4, SLC39A5

Drugs & Therapeutics for Acrodermatitis Enteropathica

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Zincapproved22967440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+

Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Study of Severe Zinc DeficienciesCompletedNCT02870166

Search NIH Clinical Center for Acrodermatitis Enteropathica

Genetic Tests for Acrodermatitis Enteropathica

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Genetic tests related to Acrodermatitis Enteropathica:

id Genetic test Affiliating Genes
1 Acrodermatitis Enteropathica, Zinc-Deficiency Type24 SLC39A4

Anatomical Context for Acrodermatitis Enteropathica

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MalaCards organs/tissues related to Acrodermatitis Enteropathica:

36
Skin, Breast, Tongue, T cells, Pancreas, Colon, Kidney

Publications for Acrodermatitis Enteropathica

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Articles related to Acrodermatitis Enteropathica:

(show top 50)    (show all 363)
idTitleAuthorsYear
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

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

70
id Symbol AA change Variation ID SNP ID
1SLC39A4p.Arg95CysVAR_023629
2SLC39A4p.Asn106LysVAR_023630
3SLC39A4p.Pro200LeuVAR_023632
4SLC39A4p.Gln303HisVAR_023634
5SLC39A4p.Gly330AspVAR_023636
6SLC39A4p.Val372ProVAR_023638
7SLC39A4p.Gly374ArgVAR_023639
8SLC39A4p.Gly526ArgVAR_023641
9SLC39A4p.Gly630ArgVAR_023642

Clinvar genetic disease variations for Acrodermatitis Enteropathica:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC39A4SLC39A4, 5-BP DELdeletionPathogenic
2SLC39A4SLC39A4, 4-BP DELdeletionPathogenic
3SLC39A4SLC39A4, IVS1AS, G-A, -19SNVPathogenic
4SLC39A4NM_ 130849.3(SLC39A4): c.599C> T (p.Pro200Leu)SNVPathogenicrs121434287GRCh37Chr 8, 145640679: 145640679
5SLC39A4NM_ 130849.3(SLC39A4): c.1576G> A (p.Gly526Arg)SNVPathogenicrs121434288GRCh37Chr 8, 145638672: 145638672
6SLC39A4NM_ 130849.3(SLC39A4): c.1120G> A (p.Gly374Arg)SNVPathogenicrs121434289GRCh37Chr 8, 145639675: 145639675
7SLC39A4NM_ 130849.3(SLC39A4): c.318C> A (p.Asn106Lys)SNVPathogenicrs121434290GRCh37Chr 8, 145641350: 145641350
8SLC39A4SLC39A4, 2-KB DEL, UPSTREAM REGIONdeletionPathogenic
9SLC39A4NM_ 130849.3(SLC39A4): c.989G> A (p.Gly330Asp)SNVPathogenicrs121434291GRCh37Chr 8, 145639806: 145639806
10SLC39A4SLC39A4, 53-BP INS, NT1017insertionPathogenic
11SLC39A4NM_ 130849.3(SLC39A4): c.283C> T (p.Arg95Cys)SNVPathogenicrs121434292GRCh37Chr 8, 145641385: 145641385
12SLC39A4NM_ 130849.3(SLC39A4): c.909G> C (p.Gln303His)SNVPathogenicrs121434293GRCh37Chr 8, 145640176: 145640176

Expression for genes affiliated with Acrodermatitis Enteropathica

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Search GEO for disease gene expression data for Acrodermatitis Enteropathica.

Pathways for genes affiliated with Acrodermatitis Enteropathica

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GO Terms for genes affiliated with Acrodermatitis Enteropathica

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

idNameGO IDScoreTop Affiliating Genes
1late endosomeGO:00057709.2SLC30A2, SLC30A4

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cellular response to zinc ion starvationGO:003422410.3SLC39A4, SLC39A5
2cellular zinc ion homeostasisGO:000688210.3SLC39A4, SLC39A5
3metal ion transportGO:003000110.3SLC39A4, SLC39A5
4zinc II ion transmembrane importGO:007157810.0SLC39A4, SLC39A5
5cation transmembrane transportGO:009865510.0SLC30A2, SLC30A4
6cation transportGO:000681210.0SLC30A2, SLC30A4
7zinc II ion transmembrane transportGO:00715779.6SLC30A2, SLC30A4
8response to zinc ionGO:00100439.4OTC, SLC30A2, SLC30A4
9ion transportGO:00068119.1SLC30A2, SLC30A4, SLC39A4, SLC39A5
10transmembrane transportGO:00550859.1SLC30A2, SLC30A4, SLC39A4, SLC39A5
11zinc II ion transportGO:00068298.3SLC30A2, SLC30A4, SLC39A4, SLC39A5
12transportGO:00068108.3ALB, SLC30A2, SLC30A4, SLC39A4, SLC39A5

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

idNameGO IDScoreTop Affiliating Genes
1metal ion transmembrane transporter activityGO:00468739.9SLC39A4, SLC39A5
2cation transmembrane transporter activityGO:00083249.7SLC30A2, SLC30A4
3zinc ion transmembrane transporter activityGO:00053858.3SLC30A2, SLC30A4, SLC39A4, SLC39A5

Sources for Acrodermatitis Enteropathica

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet