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
Clioquinol synergistically augments rescue by zinc supplementation in a mouse model of acrodermatitis enteropathica. (24015258)
2013
2
Periorificial dermatitis and erosive inguinal plaques in a 57-year-old woman. Acquired zinc deficiency acrodermatitis enteropathica (ADE). (23552816)
2013
3
Acrodermatitis enteropathica. (22486149)
2012
4
A case of acrodermatitis enteropathica localized on the hands and feet with a normal serum zinc level. (22028583)
2011
5
Acrodermatitis enteropathica in a 9 month old infant. (21598821)
2011
6
Acquired acrodermatitis enteropathica secondary to alcoholism. (18712026)
2008
7
A novel SLC39A4 gene mutation in the family of an acrodermatitis enteropathica patient with an unusual presentation. (18684156)
2008
8
The mouse acrodermatitis enteropathica gene Slc39a4 (Zip4) is essential for early development and heterozygosity causes hypersensitivity to zinc deficiency. (17483098)
2007
9
Acrodermatitis enteropathica-like eruption and food allergy. (15801253)
2005
10
An infant with acrodermatitis enteropathica-like symptoms but without hypozincemia. (15916588)
2005
11
Acrodermatitis enteropathica: case report and review of the literature. (12383101)
2002
12
Picture of the month. Acrodermatitis enteropathica-like rash in a breast-fed, full-term infant with zinc deficiency. (9856437)
1998
13
The effect of the acrodermatitis enteropathica mutation on zinc uptake in human fibroblasts. (8605078)
1995
14
Acute lymphocytic leukemia in acrodermatitis enteropathica. (8037198)
1994
15
Zinc transport by fibroblasts from patients with acrodermatitis enteropathica. (2484411)
1989
16
Self-limiting acrodermatitis enteropathica. A follow-up study of three interrelated families. (3220631)
1988
17
Ocular histopathology of acrodermatitis enteropathica. (3756122)
1986
18
Picolinic acid in acrodermatitis enteropathica: evidence for a disorder of tryptophan metabolism. (6694049)
1984
19
Maternal essential fatty acid supplementation increases zinc absorption in neonatal rats: relevance to the defect in zinc absorption in acrodermatitis enteropathica. (7110781)
1982
20
Malignant melanoma and dermatofibrosarcoma in a 60-year-old patient with lifelong acrodermatitis enteropathica. (6806338)
1982
21
Isolated IgG hypogammaglobulinemia in acrodermatitis enteropathica: correction with zinc therapy. (6979274)
1982
22
The therapeutic effect of amphotericin in acrodermatitis enteropathica: hypothesis and implications. (7274295)
1981
23
Clioquinol intoxication occurring in the treatment of acrodermatitis enteropathica with reference to SMON outside of Japan. (6460590)
1981
24
An acquired form of acrodermatitis enteropathica due to longterm lactose-free milk alimentation. (6991567)
1980
25
The acrodermatitis enteropathica-like syndrome. (109049)
1979
26
65Zinc absorption in patients suffering from acrodermatitis enteropathica and in normal adults assessed by whole-body counting technique. (117822)
1979
27
Serum alkaline phosphatase activity in acrodermatitis enteropathica: an index of the serum zinc level. (84482)
1979
28
Acrodermatitis enteropathica. (96035)
1978
29
Acrodermatitis enteropathica: mode of action of diiodohydroxyquinolin]. (349500)
1978
30
Animal model of human disease. Acrodermatitis enteropathica, zinc malabsorption. (559415)
1977
31
Acrodermatitis enteropathica. II. Zinc deficiency and ultrastructural findings. (194773)
1977
32
Treatment of acrodermatitis enteropathica with zinc sulfate. (776091)
1976
33
The role of zinc deficiency in acrodermatitis enteropathica. (1245368)
1976
34
Clinical, biochemical and histochemical studies on infants with Acrodermatitis enteropathica chronica. (829655)
1976
35
Letter: Withdrawal of zinc therapy in acrodermatitis enteropathica. (1252335)
1976
36
Hypertension in a patient with acrodermatitis enteropathica. (998234)
1976
37
Letter: Zinc and diodoquin in acrodermatitis enteropathica. (53650)
1975
38
Eye manifestations in acrodermatitis enteropathica. (1090293)
1975
39
Treatment of acrodermatitis enteropathica with zinc sulphate. (1164615)
1975
40
Tryptophan metabolsim and serum fatty acids in acrodermatitis enteropathica. (4407531)
1974
41
Proceedings: Acrodermatitis enteropathica. (4607921)
1974
42
Acrodermatitis enteropathica and pregnancy. (4607826)
1974
43
Acrodermatitis enteropathica associated with low density lipoproteins deficiency. (4369743)
1974
44
Acrodermatitis enteropathica. (5173310)
1971
45
Abetalipoproteinemia in acrodermatitis enteropathica. (4995946)
1971
46
Case for diagnosis: acrodermatitis enteropathica vs sebopsoriasis. (4248273)
1970
47
Acrodermatitis enteropathica. (4918455)
1969
48
ACRODERMATITIS ENTEROPATHICA. (14081563)
1964
49
Acrodermatitis enteropathica: demonstration of possible intestinal enzyme defect. (13936410)
1963
50
Probable acrodermatitis enteropathica treated with nystatin (mycostain). (13636458)
1959

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