MCID: ACR003
MIFTS: 50

Acrodermatitis Enteropathica 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 49 10 11 45 47 12 51 65
Aez 45 22 51 67
Acrodermatitis Enteropathica, Zinc-Deficiency Type 22 67
Ae 45 51
 
Acrodermatitis Enteropathica Zinc Deficiency Type 45
Inherited Zinc Deficiency 51
Danbolt-Cross Syndrome 45
Brandt Syndrome 45

Characteristics:

Orphanet epidemiological data:

51
acrodermatitis enteropathica:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

61
acrodermatitis enteropathica:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 201100
Disease Ontology10 DOID:0050605
Orphanet51 37
ICD10 via Orphanet28 E83.2
MedGen34 C0221036
MeSH36 D000169
UMLS65 C0221036

Summaries for Acrodermatitis Enteropathica

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NIH Rare Diseases:45 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 dermatitis and acrodermatitis, and has symptoms including pustule, abnormal blistering of the skin and short stature. 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 other and liver/biliary system.

UniProtKB/Swiss-Prot:67 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:68 Acrodermatitis enteropathica is an autosomal recessivemetabolic disorder affecting the uptake of zinc,... more...

Description from OMIM:49 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 for Acrodermatitis Enteropathica

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Symptoms by clinical synopsis from OMIM:

201100

Clinical features from OMIM:

201100

Symptoms:

 51 (show all 30)
  • eyebrows anomalies
  • anomalies of eyelids, eyelashes and lacrimal system
  • anomalies of skin, subcutaneous tissue and mucosae
  • dry/squaly skin/exfoliation
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • pustula/pustulosis
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • alopecia
  • malabsorption/chronic diarrhea/steatorrhea
  • acute diarrhea
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • photophobia
  • oral mucosa disease/cheilitis
  • anomalies of tongue, gingiva and oral mucosa
  • fissured/scrotal tongue
  • glossitis
  • chronic skin infection/ulcerations/ulcers/cancrum
  • nails anomalies
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • psychic/behavioural troubles
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • corneal ulceration/perforation
  • visual loss/blindness/amblyopia
  • anorexia
  • weight loss/loss of appetite/break in weight curve/general health alteration

HPO human phenotypes related to Acrodermatitis Enteropathica:

(show all 41)
id Description Frequency HPO Source Accession
1 pustule hallmark (90%) HP:0200039
2 abnormal blistering of the skin hallmark (90%) HP:0008066
3 short stature hallmark (90%) HP:0004322
4 cerebral cortical atrophy hallmark (90%) HP:0002120
5 malabsorption hallmark (90%) HP:0002024
6 diarrhea hallmark (90%) HP:0002014
7 alopecia hallmark (90%) HP:0001596
8 dry skin hallmark (90%) HP:0000958
9 abnormality of the eyebrow hallmark (90%) HP:0000534
10 skin ulcer typical (50%) HP:0200042
11 cheilitis typical (50%) HP:0100825
12 inflammatory abnormality of the eye typical (50%) HP:0100533
13 abnormality of the toenails typical (50%) HP:0008388
14 abnormality of the fingernails typical (50%) HP:0001231
15 photophobia typical (50%) HP:0000613
16 furrowed tongue typical (50%) HP:0000221
17 glossitis typical (50%) HP:0000206
18 corneal erosion occasional (7.5%) HP:0200020
19 anorexia occasional (7.5%) HP:0002039
20 weight loss occasional (7.5%) HP:0001824
21 visual impairment occasional (7.5%) HP:0000505
22 decreased testicular size HP:0008734
23 decreased testosterone in males HP:0008230
24 impaired t cell function HP:0005435
25 recurrent candida infections HP:0005401
26 poor appetite HP:0004396
27 short stature HP:0004322
28 low alkaline phosphatase HP:0003282
29 alopecia of scalp HP:0002293
30 hepatomegaly HP:0002240
31 diarrhea HP:0002014
32 paronychia HP:0001818
33 splenomegaly HP:0001744
34 failure to thrive HP:0001508
35 tremor HP:0001337
36 lethargy HP:0001254
37 ataxia HP:0001251
38 irritability HP:0000737
39 emotional lability HP:0000712
40 decreased taste sensation HP:0000224
41 hypogonadism HP:0000135

UMLS symptoms related to Acrodermatitis Enteropathica:


sucrose intolerance, decrease in appetite, tremor, hepatomegaly, diarrhea, cerebellar ataxia

Drugs & Therapeutics for Acrodermatitis Enteropathica

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Interventional clinical trials:

Search ClinicalTrials, 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 Type22 SLC39A4

Anatomical Context for Acrodermatitis Enteropathica

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MalaCards organs/tissues related to Acrodermatitis Enteropathica:

33
Skin, Breast, Tongue, Heart, T cells, Eye, Colon

Animal Models for Acrodermatitis Enteropathica or affiliated genes

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MGI Mouse Phenotypes related to Acrodermatitis Enteropathica:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539510.1SLC30A4, SLC39A4
2MP:00053708.0ALB, OTC, PLIN2, SLC39A4, SLC39A5
3MP:00053797.7ALB, OTC, PLIN2, SLC30A4, SLC39A4, SLC39A5
4MP:00053767.6ALB, OTC, PLIN2, SLC30A4, SLC39A4, SLC39A5

Publications for Acrodermatitis Enteropathica

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Articles related to Acrodermatitis Enteropathica:

(show top 50)    (show all 355)
idTitleAuthorsYear
1
Severe acquired acrodermatitis enteropathica caused by anorexia nervosa. (26661624)
2016
2
A mouse model of acrodermatitis enteropathica: loss of intestine zinc transporter ZIP4 (Slc39a4) disrupts the stem cell niche and intestine integrity. (22737083)
2012
3
Acrodermatitis enteropathica. (22486149)
2012
4
Gray hair and acrodermatitis enteropathica-like dermatitis: an unexpected presentation of cystic fibrosis. (21424670)
2011
5
A case of acrodermatitis enteropathica localized on the hands and feet with a normal serum zinc level. (22028583)
2011
6
Acrodermatitis enteropathica: a review of 29 Tunisian cases. (20883266)
2010
7
Novel proteolytic processing of the ectodomain of the zinc transporter ZIP4 (SLC39A4) during zinc deficiency is inhibited by acrodermatitis enteropathica mutations. (18936158)
2009
8
Acrodermatitis enteropathica in a full-term exclusively breast-fed infant. (18424385)
2008
9
Acrodermatitis enteropathica-like simulating severe atopic dermatitis: a case report. (18680706)
2008
10
Kwashiorkor and an acrodermatitis enteropathica-like eruption after a distal gastric bypass surgical procedure. (17599860)
2007
11
The mouse acrodermatitis enteropathica gene Slc39a4 (Zip4) is essential for early development and heterozygosity causes hypersensitivity to zinc deficiency. (17483098)
2007
12
Acrodermatitis enteropathica-like dermatosis associated with ornithine transcarbamylase deficiency. (17845164)
2007
13
Nutritional zinc deficiency mimicking acrodermatitis enteropathica in a fully breast-fed infant. (17062090)
2006
14
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
15
Acrodermatitis enteropathica-like eruption associated with combined nutritional deficiency. (16224175)
2005
16
Acrodermatitis enteropathica-like eruption as the presenting sign of cystic fibrosis--case report and review of the literature. (12200605)
2002
17
Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. (11254458)
2001
18
The acrodermatitis enteropathica mutation affects protein expression in human fibroblasts: analysis by two-dimensional gel electrophoresis. (9687549)
1998
19
Long chain fatty acids in serum phospholipids in acrodermatitis enteropathica before and after zinc treatment: a case report. (3392358)
1988
20
Childhood acquired immune deficiency syndrome manifesting as acrodermatitis enteropathica. (2936876)
1986
21
Picolinic acid in acrodermatitis enteropathica: evidence for a disorder of tryptophan metabolism. (6694049)
1984
22
Serum and hair zinc as predictors of clinical symptoms in acrodermatitis enteropathica. (6429442)
1984
23
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
24
Maternal essential fatty acid supplementation increases zinc absorption in neonatal rats: relevance to the defect in zinc absorption in acrodermatitis enteropathica. (7110781)
1982
25
Percutaneous absorption of zinc in acrodermatitis enteropathica. (7333397)
1981
26
Is acrodermatitis enteropathica related to the absence of zinc binding ligand in bovine milk? (570352)
1979
27
Acrodermatitis enteropathica, immunodeficiency, and zinc. (630912)
1978
28
Zinc therapy of acrodermatitis enteropathica. (659045)
1978
29
Acrodermatitis enteropathica--a zinc deficiency state. (675401)
1978
30
Zinc deficiency with skin lesions as seen in acrodermatitis enteropathica, and intoxication with zinc during parenteral nutrition. (416361)
1977
31
Animal model of human disease. Acrodermatitis enteropathica, zinc malabsorption. (559415)
1977
32
Acrodermatitis enteropathica, zinc, and the Paneth cell. A case report with family studies. (196972)
1977
33
Letter: Plasma-zinc in acrodermatitis enteropathica. (55755)
1976
34
Gluconate zinc in acrodermatitis enteropathica. (773310)
1976
35
Letter: Acrodermatitis enteropathica and cellular immune deficiency. (57499)
1976
36
Treatment of acrodermatitis enteropathica with zinc sulfate. (776091)
1976
37
Reversible intestinal mucosal abnormality in acrodermatitis enteropathica. (952555)
1976
38
Letter: Exacerbation of acrodermatitis enteropathica by soya-bean milk feeding. (52794)
1975
39
Determination of oxyquinoline concentrations in plasma in a patient treated for acrodermatitis enteropathica--an aid in therapeutic control. (4426461)
1974
40
Tryptophan metabolsim and serum fatty acids in acrodermatitis enteropathica. (4407531)
1974
41
Ultrastructural findings in acrodermatitis enteropathica. (4359206)
1974
42
Agammaglobulinemia with B lymphocytes in a neonate with acrodermatitis enteropathica. (4546718)
1974
43
Metabolic changes in acrodermatitis enteropathica. (4599862)
1974
44
Zinc deficiency in acrodermatitis enteropathica: multiple dietary intolerance treated with synthetic diet. (4577330)
1973
45
Acrodermatitis enteropathica with lactose intolerance. (5085934)
1972
46
Acrodermatitis enteropathica. (4572293)
1972
47
Acrodermatitis enteropathica. (5113595)
1971
48
Acrodermatitis enteropathica. (4918455)
1969
49
Acrodermatitis enteropathica. (4229461)
1967
50
Acrodermatitis enteropathica. Report of a case in a twin with dramatic response to expressed human milk. (5318960)
1965

Variations for Acrodermatitis Enteropathica

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

67
id Symbol AA change Variation ID SNP ID
1SLC39A4p.Arg95CysVAR_023629
2SLC39A4p.Asn106LysVAR_023630
3SLC39A4p.Pro200LeuVAR_023632
4SLC39A4p.Gln303HisVAR_023634
5SLC39A4p.Gly330AspVAR_023636
6SLC39A4p.Leu372ProVAR_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, -19single nucleotide variantPathogenic
4SLC39A4NM_130849.3(SLC39A4): c.599C> T (p.Pro200Leu)single nucleotide variantPathogenicrs121434287GRCh37Chr 8, 145640679: 145640679
5SLC39A4NM_130849.3(SLC39A4): c.1576G> A (p.Gly526Arg)single nucleotide variantPathogenicrs121434288GRCh37Chr 8, 145638672: 145638672
6SLC39A4NM_130849.3(SLC39A4): c.1120G> A (p.Gly374Arg)single nucleotide variantPathogenicrs121434289GRCh37Chr 8, 145639675: 145639675
7SLC39A4NM_130849.3(SLC39A4): c.318C> A (p.Asn106Lys)single nucleotide variantPathogenicrs121434290GRCh37Chr 8, 145641350: 145641350
8SLC39A4SLC39A4, 2-KB DEL, UPSTREAM REGIONdeletionPathogenic
9SLC39A4NM_130849.3(SLC39A4): c.989G> A (p.Gly330Asp)single nucleotide variantPathogenicrs121434291GRCh37Chr 8, 145639806: 145639806
10SLC39A4SLC39A4, 53-BP INS, NT1017insertionPathogenic
11SLC39A4NM_130849.3(SLC39A4): c.283C> T (p.Arg95Cys)single nucleotide variantPathogenicrs121434292GRCh37Chr 8, 145641385: 145641385
12SLC39A4NM_130849.3(SLC39A4): c.909G> C (p.Gln303His)single nucleotide variantPathogenicrs121434293GRCh37Chr 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
1endoplasmic reticulumGO:00057839.5ALB, PLIN2

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to zinc ion starvationGO:00342249.5SLC39A4, SLC39A5
2response to zinc ionGO:00100439.4OTC, SLC30A4
3zinc II ion transmembrane transportGO:00715778.6SLC30A2, SLC30A4, SLC39A4

Sources for Acrodermatitis Enteropathica

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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