AE
MCID: ACR003
MIFTS: 63

Acrodermatitis Enteropathica (AE) malady

Gastrointestinal diseases, Skin diseases, Metabolic diseases, Fetal diseases categories

Summaries for Acrodermatitis Enteropathica

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Acrodermatitis Enteropathica, also known as acrodermatitis enteropathica zinc deficiency type, is related to acrodermatitis and cystic fibrosis, and has symptoms including chronic skin infection/ulcerations/ulcers/cancrum, nails anomalies and dysplastic/thick/grooved fingernails. 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 NAD metabolism. The compounds Fospropofol and phosphoethanolamine have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and tongue, and related mouse phenotypes are limbs/digits/tail and growth/size.

Wikipedia:63 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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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 20GeneTests, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

acrodermatitis enteropathica 8 9 42 46 10 44 48 60
acrodermatitis enteropathica zinc deficiency type 42 20
aez 42 48
ae 42 48
inherited zinc deficiency 48
danbolt-cross syndrome 42
brandt syndrome 42


External Ids:

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

Related Diseases for Acrodermatitis Enteropathica

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Acrodermatitis Enteropathica:



Diseases related to acrodermatitis enteropathica

Clinical Features for Acrodermatitis Enteropathica

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46OMIM, 48Orphanet
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Clinical features from OMIM:

201100

Clinical synopsis from OMIM:

201100

Symptoms:

48 (show all 30)
  • 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
  • glossitis
  • fissured/scrotal tongue
  • anomalies of tongue, gingiva and oral mucosa
  • 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
  • eyebrows anomalies

Drugs & Therapeutics for Acrodermatitis Enteropathica

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Acrodermatitis Enteropathica

Drug clinical trials:

Search ClinicalTrials for Acrodermatitis Enteropathica

Search NIH Clinical Center for Acrodermatitis Enteropathica

Search CenterWatch for Acrodermatitis Enteropathica

Genetic Tests for Acrodermatitis Enteropathica

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20GeneTests
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Acrodermatitis Enteropathica:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6SLC39A1, SLC39A14, SLC39A2, TMPO, ALPL, SLC30A5
2MP:00053786.3ALPP, PLIN2, SLC30A5, SLC39A1, SLC30A7, SLC39A14

Publications for Acrodermatitis Enteropathica

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50PubMed
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Articles related to Acrodermatitis Enteropathica:

(show top 50)    (show all 334)
idTitleAuthorsYear
1
Acrodermatitis enteropathica during adequate enteral nutrition. (22038206)
2012
2
One novel homozygous mutation of SLC39A4 gene in a Chinese patient with acrodermatitis enteropathica. (20300938)
2010
3
Acrodermatitis enteropathica-like eruption in metabolic disorders: acrodermatitis dysmetabolica is proposed as a better term. (19419460)
2009
4
Acrodermatitis enteropathica-like dermatosis associated with combined deficiency of zinc and amino acids. (19659876)
2009
5
Acrodermatitis enteropathica-like eruption and failure to thrive as presenting signs of cystic fibrosis. (17097368)
2008
6
Regulation and function of Zip4, the acrodermatitis enteropathica gene. (19021533)
2008
7
Acrodermatitis enteropathica-like syndrome secondary to branched-chain amino acid deficiency in inborn errors of metabolism. (18577070)
2008
8
Kwashiorkor and an acrodermatitis enteropathica-like eruption after a distal gastric bypass surgical procedure. (17599860)
2007
9
Acrodermatitis enteropathica. (18328205)
2007
10
Acrodermatitis enteropathica: zinc therapy and possible identification of a carrier state through multiple hair zinc analyses over three decades. (17205991)
2006
11
Acrodermatitis enteropathica-like rash in an exclusively breast fed infant with zinc deficiency. (12692370)
2003
12
Acrodermatitis enteropathica-like eruption: a sign of malabsorption in cystic fibrosis. (12657028)
2003
13
The acrodermatitis enteropathica gene ZIP4 encodes a tissue-specific, zinc-regulated zinc transporter in mice. (12801924)
2003
14
Acrodermatitis enteropathica-like eruption as the presenting sign of cystic fibrosis--case report and review of the literature. (12200605)
2002
15
The acrodermatitis enteropathica mutation affects protein expression in human fibroblasts: analysis by two-dimensional gel electrophoresis. (9687549)
1998
16
Picture of the month. Acrodermatitis enteropathica-like rash in cystic fibrosis. (8542016)
1996
17
Self assessment--1993. Acrodermatitis enteropathica. (7699125)
1994
18
Acrodermatitis enteropathica in Saudi Arabia. (2323867)
1990
19
Acrodermatitis enteropathica with normal zinc concentrations. (2311988)
1990
20
Acrodermatitis enteropathica: zinc in epidermis in relation to changes in dosage of zinc. (1967889)
1990
21
Histopathological study of transient acrodermatitis enteropathica due to decreased zinc in breast milk. (2613951)
1989
22
Alcohol and acquired acrodermatitis enteropathica. (3805375)
1986
23
The effect of zinc therapy on lysosomal inclusion bodies in intestinal epithelial cells in acrodermatitis enteropathica. (6304608)
1983
24
The histopathology of acrodermatitis enteropathica. (7149179)
1982
25
Zinc dependency as a cause of chronic diarrhea in variant acrodermatitis enteropathica. (6918908)
1982
26
Zinc deficiency with transitory acrodermatitis enteropathica in a boy of low birth weight. (7195272)
1981
27
Hereditary acrodermatitis enteropathica in an adult. (7377790)
1980
28
Bilateral cataract in acrodermatitis enteropathica. (458529)
1979
29
Letter: Acrodermatitis enteropathica and cellular immune deficiency. (57499)
1976
30
Reversible intestinal mucosal abnormality in acrodermatitis enteropathica. (952555)
1976
31
Letter: Acrodermatitis enteropathica, zinc, and ultrastructural lesions in Paneth cells. (55701)
1976
32
Letter: Aetiology of cellular immune deficiency in acrodermatitis enteropathica. (54613)
1976
33
Letter: Exacerbation of acrodermatitis enteropathica by soya-bean milk feeding. (52794)
1975
34
Acrodermatitis enteropathica. Corneal involvement with histochemical and electron micrographic studies. (124566)
1975
35
Acrodermatitis enteropathica in two siblings treated with zinc sulphate supplements alone. (766011)
1975
36
Letter: Zinc and diodoquin in acrodermatitis enteropathica. (53410)
1975
37
Letter: Low hair-zinc concentrations in acrodermatitis enteropathica. (48963)
1975
38
Letter: Zinc absorption in acrodermatitis enteropathica and in hypogeusia and hyposmia. (48964)
1975
39
LETTER: Treatment of acrodermatitis enteropathica with zinc sulfate. (1128995)
1975
40
Determination of oxyquinoline concentrations in plasma in a patient treated for acrodermatitis enteropathica--an aid in therapeutic control. (4426461)
1974
41
Agammaglobulinemia with B lymphocytes in a neonate with acrodermatitis enteropathica. (4546718)
1974
42
Letter: Acrodermatitis enteropathica: a lethal inherited human zinc-deficiency disorder. (4136854)
1974
43
Letter: Acrodermatitis enteropathica-like clinical findings in two children. (4588205)
1974
44
Acrodermatitis enteropathica and failure to thrive. (4584306)
1973
45
Acrodermatitis enteropathica. (4572293)
1972
46
Acrodermatitis enteropathica. (5823853)
1969
47
Autopsy findings in acrodermatitis enteropathica. (4885296)
1969
48
Treatment of acrodermatitis enteropathica Danbolt-Closs. (4231424)
1967
49
Acrodermatitis enteropathica. Case report and review of literature. (13933009)
1963
50
Acrodermatitis enteropathica (Danbolt-Closs) in five siblings; efficacy of diodoquin in its management. (13295966)
1956

Genetic Variations for Acrodermatitis Enteropathica

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Acrodermatitis Enteropathica:

62
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

Expression for genes affiliated with Acrodermatitis Enteropathica

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 53Reactome
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Compounds for genes affiliated with Acrodermatitis Enteropathica

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11DrugBank, 44Novoseek, 24HMDB
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Compounds related to Acrodermatitis Enteropathica according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1Fospropofol1110.2ALB, ALPL
2phosphoethanolamine449.8ALPP, ALPL
3diflunisal44 1110.7ALB, ALPP
4sevoflurane44 1110.7ALB, ALPP
57,8-dihydroneopterin44 2410.7ALPPL2, ALPP, ALPL
6dihydroneopterin triphosphate44 2410.7ALPL, ALPP, ALPPL2
7vitamin b6449.7ALPL, ALPP, ALB
8dihydroxyacetone44 2410.7ALPL, ALPP, ALPPL2
9amifostine44 1110.6ALPPL2, ALPL
10alizarin449.6ALPL, ALPP
11levamisole44 1110.6ALPPL2, ALPP, ALPL
12pyridoxal 5-phosphate449.6ALB, ALPP, ALPL
13aspartate449.1OTC, TMPO, ALPL, ALPP, ALB
14zinc44 249.8SLC30A5, SLC39A1, SLC30A2, SLC30A1, SLC39A2, SLC30A4

GO Terms for genes affiliated with Acrodermatitis Enteropathica

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16Gene Ontology
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Cellular components related to Acrodermatitis Enteropathica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160239.2SLC39A4, SLC39A2, SLC30A7
2anchored to membraneGO:0312259.1ALPL, ALPP, ALPPL2
3plasma membraneGO:0058866.8PLIN2, SLC39A1, SLC39A8, SLC30A1, SLC39A14, SLC39A2
4integral to membraneGO:0160215.4ALPP, SLC39A1, SLC39A8, SLC30A2, SLC30A1, SLC30A7

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

idNameGO IDScoreTop Affiliating Genes
1response to zinc ionGO:01004310.1OTC, SLC30A5
2cellular response to zinc ion starvationGO:0342249.8SLC39A4, SLC39A5
3cellular zinc ion homeostasisGO:0068829.2SLC30A5, SLC30A1, SLC39A14, SLC39A4
4zinc ion transmembrane transportGO:0715779.1SLC30A5, SLC39A1, SLC39A14, SLC30A4
5zinc ion transportGO:0068297.9SLC39A5, SLC39A2, SLC30A7, SLC30A1, SLC30A2, SLC39A8
6transmembrane transportGO:0550856.1ALB, SLC30A5, SLC39A1, SLC39A8, SLC39A4, SLC39A5

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

idNameGO IDScoreTop Affiliating Genes
1metal ion transmembrane transporter activityGO:0468739.5SLC39A5, SLC39A8
2cation transmembrane transporter activityGO:0083249.4SLC30A7, SLC30A2
3alkaline phosphatase activityGO:0040359.3ALPL, ALPP, ALPPL2
4zinc ion transmembrane transporter activityGO:0053857.7SLC39A4, SLC30A5, SLC39A1, SLC30A1, SLC39A14, SLC30A6

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet