AE
MCID: ACR003
MIFTS: 53

Acrodermatitis Enteropathica (AE) malady

Gastrointestinal, Skin, Metabolic, Fetal categories

Summaries for Acrodermatitis Enteropathica

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 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 NAD metabolism. The compounds Fospropofol and phosphoethanolamine have been mentioned in the context of this disorder. Affiliated tissues include small intestine, colon and liver, and related mouse phenotypes are limbs/digits/tail and growth/size.

Wikipedia:64 Acrodermatitis enteropathica is an autosomal recessivemetabolic disorder affecting the uptake of zinc,... more...

Description from OMIM:47 201100

Aliases & Classifications for Acrodermatitis Enteropathica

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 45Novoseek, 61UMLS, 20GeneTests, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Gastrointestinal, Skin, Metabolic


Characteristics (Orphanet epidemiological data):

49
acrodermatitis enteropathica, zinc deficiency type:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

acrodermatitis enteropathica 8 9 43 47 10 45 61
acrodermatitis enteropathica zinc deficiency type 43 20
acrodermatitis enteropathica, zinc deficiency type 49
danbolt-cross syndrome 43
brandt syndrome 43
aez 43
ae 43


External Ids:

Disease Ontology8 DOID:0050605
OMIM47 201100
ICD10 via Orphanet26 E83.2

Related Diseases for Acrodermatitis Enteropathica

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Acrodermatitis Enteropathica via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1acrodermatitis32.2SLC39A4
2cystic fibrosis31.0OTC, ALB
3enteropathica11.5
4anorexia nervosa10.5
5maple syrup urine disease10.4
6lactose intolerance10.4
7acute leukemia10.4
8acute lymphocytic leukemia10.4
9crohn's disease10.2
10abetalipoproteinemia10.2
11kwashiorkor10.2
12atopic dermatitis10.2
13keratomalacia10.2
14dermatofibrosarcoma10.2
15hartnup disease10.2
16pellagra10.2
17short bowel syndrome10.2
18acquired immunodeficiency syndrome10.2
19ulcerative colitis10.2
20n syndrome10.2
21vitiligo10.2
22agammaglobulinemia10.2
23squamous cell carcinoma10.2
24t cell deficiency10.2
25short syndrome10.2
26glucagonoma10.2
27cerebral atrophy10.2
28pancreatitis, chronic10.2
29zinc deficiency, transient neonatal10.2
30sepsis10.2
31lip disease10.2
32neuronitis10.1
33chikungunya10.1
34biliary atresia10.0OTC
35lung cancer10.0ALB
36arthropathy10.0ALPL
37dysgerminoma10.0ALPP
38acute liver failure10.0OTC, ALB
39liver cirrhosis10.0ALB
40choriocarcinoma10.0ALPPL2, ALPP
41endodermal sinus tumor10.0ALPP, ALPPL2
42hypophosphatasia, infantile10.0ALPL, ALPP
43rickets10.0ALB, ALPP
44choledocholithiasis10.0ALPP, ALPPL2, ALPL
45hyperphosphatemia10.0ALPPL2, ALPP, ALPL
46hypophosphatemia10.0ALPPL2, ALPP, ALPL
47osteitis fibrosa10.0ALPPL2, ALPP, ALPL
48hypophosphatasia10.0ALPL, ALPPL2, ALPP
49x-linked hypophosphatemia10.0ALPPL2, ALPL, ALPP
50embryonal cancer10.0ALPP, ALPPL2, ALPL

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



Diseases related to acrodermatitis enteropathica

Clinical Features for Acrodermatitis Enteropathica

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

201100

Clinical synopsis from OMIM:

201100

Symptoms:

49 (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

Drugs & Therapeutics for Acrodermatitis Enteropathica

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests
See all sources

Genetic tests related to Acrodermatitis Enteropathica:

id Genetic test Affiliating Genes
1 Acrodermatitis Enteropathica, Zinc-deficiency Type20 SLC39A4

Anatomical Context for Acrodermatitis Enteropathica

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Acrodermatitis Enteropathica:

33
Small intestine, Colon, Liver, Pancreas, Breast, Skin, B cells

Animal Models for Acrodermatitis Enteropathica or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Acrodermatitis Enteropathica:

37
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

Sources:
51PubMed
See all sources

Articles related to Acrodermatitis Enteropathica:

(show top 50)    (show all 334)
idTitleAuthorsYear
1
Acrodermatitis enteropathica-like skin lesions in a neonate. (23814231)
2013
2
Symmetrical erythematous and hyperkeratotic plaques. Diagnosis: Acrodermatitis enteropathica (AE). (20653862)
2010
3
A diagnostic challenge: a case of acrodermatitis enteropathica without hypozincemia and with maternal milk of low zinc level. (20807356)
2010
4
A new genetic isolate of acrodermatitis enteropathica with a novel mutation. (19416242)
2009
5
Acquired acrodermatitis enteropathica due to zinc deficiency in a patient with pre-existing Darier's disease. (21886729)
2009
6
Acrodermatitis enteropathica-like simulating severe atopic dermatitis: a case report. (18680706)
2008
7
What is your diagnosis? Acquired acrodermatitis enteropathica. (18491477)
2008
8
Bullous lesions in acrodermatitis enteropathica delaying diagnosis of zinc deficiency: a report of two cases and review of the literature. (18537855)
2008
9
Re: acrodermatitis enteropathica-like eruption and failure to thrive as presenting signs of cystic fibrosis. (18793942)
2008
10
Acrodermatitis enteropathica-like skin eruption in a case of short bowel syndrome following jejuno-transverse colon anastomosis. (18328214)
2007
11
A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica. (17573886)
2007
12
Acrodermatitis enteropathica in a breast-fed infant. (17563930)
2007
13
Acrodermatitis enteropathica with depigmented skin lesions simulating vitiligo. (18036000)
2007
14
Nutritional zinc deficiency mimicking acrodermatitis enteropathica in a fully breast-fed infant. (17062090)
2006
15
Acrodermatitis enteropathica (AE) is caused by mutations in the zinc transporter gene SLC39A4]. (16819703)
2006
16
Acquired acrodermatitis enteropathica caused by anorexia nervosa. (16021147)
2005
17
Edema, anemia, hypoproteinemia, and acrodermatitis enteropathica: an uncommon initial presentation of cystic fibrosis. (14758309)
2004
18
Case 4. Transient symptomatic zinc deficiency in a breast-fed premature infant: an acrodermatitis enteropathica-like eruption. (12558652)
2003
19
Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. (12068297)
2002
20
Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. (11254458)
2001
21
Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis enteropathica. (11511923)
2001
22
Acrodermatitis enteropathica with Pseudomonas aeruginosa sepsis. (10632941)
1999
23
The acrodermatitis enteropathica mutation transiently affects zinc metabolism in human fibroblasts. (8558304)
1996
24
Acrodermatitis enteropathica secondary to Crohn's disease. (8993972)
1996
25
Clinical and laboratory diagnosis of acrodermatitis enteropathica. (2691254)
1989
26
Cystic fibrosis manifesting with acrodermatitis enteropathica-like eruption. Association with essential fatty acid and zinc deficiencies. (6849566)
1983
27
Successful outcome of two pregnancies in a patient with congenital acrodermatitis enteropathica. (7050774)
1982
28
Percutaneous absorption of zinc in acrodermatitis enteropathica. (7333397)
1981
29
Zinc therapy of depressed cellular immunity in acrodermatitis enteropathica. (7301208)
1981
30
Acrodermatitis enteropathica in a Kenyan African child. (544270)
1979
31
Self-assessment mini-quiz. Acrodermatitis enteropathica. (422315)
1979
32
Zinc therapy of depressed cellular immunity in acrodermatitis enteropathica. Its correction. (112858)
1979
33
Acrodermatitis enteropathica. (427011)
1979
34
Zinc deficiency with skin lesions as seen in acrodermatitis enteropathica, and intoxication with zinc during parenteral nutrition. (416361)
1977
35
Acrodermatitis enteropathica, zinc, and the Paneth cell. A case report with family studies. (196972)
1977
36
Zinc correction of defective chemotaxis in acrodermatitis enteropathica. (848970)
1977
37
Letter: Plasma-zinc in acrodermatitis enteropathica. (55755)
1976
38
Gluconate zinc in acrodermatitis enteropathica. (773310)
1976
39
Acrodermatitis enteropathica. Successful zinc therapy. (999313)
1976
40
Zinc therapy in acrodermatitis enteropathica. (955933)
1976
41
Treatment of acrodermatitis enteropathica with zinc sulphate. Rerport of 3 cases. (955934)
1976
42
Clinical aspects and current status in the treatment of acrodermatitis enteropathica. (793985)
1976
43
Acrodermatitis enteropathica--hereditary zinc deficiency. (1105252)
1975
44
Presence of -lipoprotein in serum of patients treated for acrodermatitis enteropathica (Danbolt's disease). (4343518)
1972
45
Acrodermatitis enteropathica. (4229461)
1967
46
Serum and erythrocyte fatty acids in a case of acrodermatitis enteropathica. (5334980)
1967
47
Acrodermatitis enteropathica with secondary lactose intolerance, and tertiary deficiency state, probably due to chelation of essential nutrients by di-iodohydroxyquinolone. (5326958)
1966
48
FAMILIAL ACRODERMATITIS ENTEROPATHICA IN AN ADULT. (14088642)
1963
49
Acrodermatitis enteropathica. (14419178)
1959
50
Acrodermatitis enteropathica in an adult. (13443511)
1957

Genetic Variations for Acrodermatitis Enteropathica

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Acrodermatitis Enteropathica:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Acrodermatitis Enteropathica

Search GEO for disease gene expression data for Acrodermatitis Enteropathica.

Pathways for genes affiliated with Acrodermatitis Enteropathica

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 54Reactome
See all sources

Compounds for genes affiliated with Acrodermatitis Enteropathica

Sources:
11DrugBank, 45Novoseek, 24HMDB
See all sources

Compounds related to Acrodermatitis Enteropathica according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1Fospropofol1110.2ALB, ALPL
2phosphoethanolamine459.8ALPP, ALPL
3diflunisal45 1110.7ALB, ALPP
4sevoflurane45 1110.7ALB, ALPP
57,8-dihydroneopterin45 2410.7ALPPL2, ALPP, ALPL
6dihydroneopterin triphosphate45 2410.7ALPL, ALPP, ALPPL2
7vitamin b6459.7ALPL, ALPP, ALB
8dihydroxyacetone45 2410.7ALPL, ALPP, ALPPL2
9amifostine45 1110.6ALPPL2, ALPL
10alizarin459.6ALPL, ALPP
11levamisole45 1110.6ALPPL2, ALPP, ALPL
12pyridoxal 5-phosphate459.6ALB, ALPP, ALPL
13aspartate459.1OTC, TMPO, ALPL, ALPP, ALB
14zinc45 249.8SLC30A5, SLC39A1, SLC30A2, SLC30A1, SLC39A2, SLC30A4

GO Terms for genes affiliated with Acrodermatitis Enteropathica

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet