AE
MCID: ACR003
MIFTS: 59

Acrodermatitis Enteropathica (AE) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Skin diseases, Metabolic diseases, Fetal diseases categories
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Summaries for Acrodermatitis Enteropathica

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NIH Rare Diseases:42 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 acrodermatitis enteropathica zinc deficiency type, is related to acrodermatitis and enteropathica, and has symptoms including eyebrows anomalies, anomalies of eyelids, eyelashes and lacrimal system and anomalies of skin, subcutaneous tissue and mucosae. An important gene associated with Acrodermatitis 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 skin, breast and tongue, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

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

Description from OMIM:46 201100

Aliases & Classifications for Acrodermatitis Enteropathica

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Acrodermatitis Enteropathica, Aliases & Descriptions:

Name: Acrodermatitis Enteropathica 8 9 42 46 10 44 48 62
Acrodermatitis Enteropathica Zinc Deficiency Type 42 20 62
Inherited Zinc Deficiency 48 62
Brandt Syndrome 42 62
 
Aez 42 48
Ae 42 48
Danbolt-Cross Syndrome 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
acrodermatitis enteropathica:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

Disease Ontology8 DOID:0050605
OMIM46 201100
ICD10 via Orphanet26 E83.2

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:

48 (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 43)
id Description Frequency HPO Source Accession
1 abnormality of the eyebrow hallmark (90%) HP:0000534
2 dry skin hallmark (90%) HP:0000958
3 alopecia hallmark (90%) HP:0001596
4 diarrhea hallmark (90%) HP:0002014
5 malabsorption hallmark (90%) HP:0002024
6 cerebral cortical atrophy hallmark (90%) HP:0002120
7 short stature hallmark (90%) HP:0004322
8 abnormal blistering of the skin hallmark (90%) HP:0008066
9 pustule hallmark (90%) HP:0200039
10 glossitis typical (50%) HP:0000206
11 furrowed tongue typical (50%) HP:0000221
12 photophobia typical (50%) HP:0000613
13 abnormality of the fingernails typical (50%) HP:0001231
14 abnormality of the toenail typical (50%) HP:0008388
15 inflammatory abnormality of the eye typical (50%) HP:0100533
16 cheilitis typical (50%) HP:0100825
17 skin ulcer typical (50%) HP:0200042
18 visual impairment occasional (7.5%) HP:0000505
19 weight loss occasional (7.5%) HP:0001824
20 anorexia occasional (7.5%) HP:0002039
21 corneal erosion occasional (7.5%) HP:0200020
22 autosomal recessive inheritance HP:0000007
23 hypogonadism HP:0000135
24 decreased taste sensation HP:0000224
25 emotional lability HP:0000712
26 irritability HP:0000737
27 ataxia HP:0001251
28 lethargy HP:0001254
29 tremor HP:0001337
30 failure to thrive HP:0001508
31 splenomegaly HP:0001744
32 paronychia HP:0001818
33 diarrhea HP:0002014
34 hepatomegaly HP:0002240
35 alopecia of scalp HP:0002293
36 low alkaline phosphatase HP:0003282
37 infantile onset HP:0003593
38 short stature HP:0004322
39 poor appetite HP:0004396
40 recurrent candida infections HP:0005401
41 impaired t cell function HP:0005435
42 decreased testosterone in males HP:0008230
43 decreased testicular size HP:0008734

Drugs & Therapeutics for Acrodermatitis Enteropathica

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Drug clinical trials:

Search ClinicalTrials for Acrodermatitis Enteropathica

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 Type20 SLC39A4

Anatomical Context for Acrodermatitis Enteropathica

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MalaCards organs/tissues related to Acrodermatitis Enteropathica:

32
Skin, Breast, Tongue, Eye, Colon, Liver, Pancreas

Animal Models for Acrodermatitis Enteropathica or affiliated genes

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MGI Mouse Phenotypes related to Acrodermatitis Enteropathica:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3PLIN2, ALB, SLC39A4, OTC
2MP:00053797.8OTC, SLC39A4, SLC30A4, ALB, PLIN2
3MP:00107717.8PLIN2, SLC39A1, SLC30A4, OTC
4MP:00053767.8OTC, SLC39A4, SLC30A4, ALB, PLIN2
5MP:00053787.3PLIN2, SLC39A1, SLC30A4, SLC39A4, SLC30A5, OTC

Publications for Acrodermatitis Enteropathica

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Articles related to Acrodermatitis Enteropathica:

(show top 50)    (show all 336)
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
Zinc deficiency with skin lesions as seen in acrodermatitis enteropathica, and intoxication with zinc during parenteral nutrition. (416361)
1977
30
Animal model of human disease. Acrodermatitis enteropathica, zinc malabsorption. (559415)
1977
31
Acrodermatitis enteropathica, zinc, and the Paneth cell. A case report with family studies. (196972)
1977
32
Letter: Plasma-zinc in acrodermatitis enteropathica. (55755)
1976
33
Gluconate zinc in acrodermatitis enteropathica. (773310)
1976
34
Letter: Acrodermatitis enteropathica and cellular immune deficiency. (57499)
1976
35
Treatment of acrodermatitis enteropathica with zinc sulfate. (776091)
1976
36
Reversible intestinal mucosal abnormality in acrodermatitis enteropathica. (952555)
1976
37
Letter: Exacerbation of acrodermatitis enteropathica by soya-bean milk feeding. (52794)
1975
38
Letter: Increased copper/zinc ratios in acrodermatitis enteropathica. (48820)
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:

64
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:

6 (show all 12)
id Gene Name 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 DELdeletionPathogenic
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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Expression patterns in normal tissues for genes affiliated with Acrodermatitis Enteropathica

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Pathways for genes affiliated with Acrodermatitis Enteropathica

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Pathways related to Acrodermatitis Enteropathica according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Acrodermatitis Enteropathica

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 28IUPHAR
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Compounds related to Acrodermatitis Enteropathica according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1urea44 24 1111.5OTC, ALB
2valproic acid44 50 24 1112.4OTC, ALB
3carnitine449.3PLIN2, OTC
4acyl-coa449.2OTC, PLIN2
5oleic acid44 28 24 1112.2ALB, PLIN2
6fatty acid448.9PLIN2, ALB, OTC
7rosiglitazone28 44 50 24 1112.8ALB, PLIN2
8zinc44 249.7SLC30A5, SLC39A4, SLC30A4, SLC39A1

GO Terms for genes affiliated with Acrodermatitis Enteropathica

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Biological processes related to Acrodermatitis Enteropathica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular response to zinc ion starvationGO:0342249.8SLC39A5, SLC39A4
2response to zinc ionGO:0100439.6OTC, SLC30A5
3cellular zinc ion homeostasisGO:0068829.6SLC30A5, SLC39A4
4zinc ion transportGO:0068299.3SLC30A5, SLC39A5
5zinc ion transmembrane transportGO:0715779.0SLC30A5, SLC30A4, SLC39A1
6transmembrane transportGO:0550858.3SLC30A5, SLC39A4, SLC39A1, SLC39A5, ALB

Molecular functions related to Acrodermatitis Enteropathica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1zinc ion transmembrane transporter activityGO:0053858.5SLC30A5, SLC39A4, SLC30A4, SLC39A1

Products for genes affiliated with Acrodermatitis Enteropathica

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Sources for Acrodermatitis Enteropathica

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet