MCID: ACR003
MIFTS: 49

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 angioedema induced by ace inhibitors and zinc deficiency, transient neonatal, 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, tongue and breast, 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

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, Tongue, Breast, T cells, Eye, Lung, 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 351)
idTitleAuthorsYear
1
A distinctive ovarian cancer molecular subgroup characterized by poor prognosis and somatic focal copy number amplifications at chromosome 19. (24321399)
2013
2
Generalized Granulomatous Dermatitis Accompanied by Myelodysplastic Syndrome. (23817627)
2013
3
Presbyopia, spectacles use and spectacle correction coverage for near vision among cloth weaving communities in Prakasam district in South India. (23758169)
2013
4
Longitudinal changes in retinal nerve fiber layer thickness after vitrectomy for rhegmatogenous retinal detachment. (22807292)
2012
5
Acquired optic nerve and peripapillary pits in pathologic myopia. (22494632)
2012
6
Stat1 activation attenuates IL-6 induced Stat3 activity but does not alter apoptosis sensitivity in multiple myeloma. (22838736)
2012
7
Localization and upregulation of the nasal histamine H1 receptor in perennial allergic rhinitis. (23132961)
2012
8
Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population. (21550138)
2011
9
GABA(A) receptor- and GABA transporter polymorphisms and risk for essential tremor. (21749575)
2011
10
Effects of MDM2 promoter polymorphisms and p53 codon 72 polymorphism on risk and age at onset of squamous cell carcinoma of the head and neck. (21656578)
2011
11
Mechanisms of p53-mediated repression of the human polycystic kidney disease-1 promoter. (20388565)
2010
12
Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. (19649633)
2010
13
Circulating tumor cells with a putative stem cell phenotype in peripheral blood of patients with breast cancer. (19619935)
2010
14
Mechanisms and resistance in glucocorticoid control of inflammation. (20188830)
2010
15
Tamoxifen use and endometrial lesions: hysteroscopic, histological, and immunohistochemical findings in postmenopausal women with breast cancer. (19034048)
2009
16
Distinct spatial activation of intrinsic and extrinsic apoptosis pathways in natural scrapie: association with prion-related lesions. (19401142)
2009
17
Inhibition of TNF-alpha reduces transplant arteriosclerosis in a murine aortic transplant model. (19055619)
2009
18
Electrophysiological and behavioral correlates of polymorphisms in the transcription factor AP-2beta coding gene. (18358611)
2008
19
Phosphatidylinositol-3-kinase inhibitor LY 294002 blocks Streptococcus mutans-induced interleukin (IL)-6 and IL-8 gene expression in odontoblast-like cells. (18637849)
2008
20
Identification and characterization of mature beta-hexosaminidases associated with human placenta lysosomal membrane. (18588514)
2008
21
Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. (19065339)
2008
22
Dose-response effect of serum butyrylcholinesterase activity after clinical doses of pancuronium. (18766333)
2008
23
Activation of the hypoxia-inducible factor-1alpha pathway accelerates bone regeneration. (18184809)
2008
24
Moyamoya disease and aortic coarctation in a patient with common brachiocephalic trunk. (17347086)
2007
25
Transcription factor SOX2 up-regulates stomach-specific pepsinogen A gene expression. (17136346)
2007
26
ARF6 and EFA6A regulate the development and maintenance of dendritic spines. (16672654)
2006
27
Potential immunogenicity of adult T cell leukemia cells in vivo. (15551352)
2005
28
Post-cesarean section acute colonic pseudo-obstruction with spontaneous perforation. (15847880)
2005
29
Identification and characterization of human GRID2IP gene and rat Grid2ip gene in silico. (14612983)
2003
30
Impaired expression of proteasome subunits and human leukocyte antigens class I in human colon cancer cells. (12519221)
2003
31
Human telomerase reverse transcriptase (hTERT) gene expression in FNA samples from thyroid neoplasms. (12618337)
2003
32
Evidence for an N-glycosylation polymorphism of arylsulfatase a predisposing to alcoholism in Koreans. (11857580)
2002
33
Malignant teratoma of the medulla oblongata in an adult male. (11810399)
2001
34
Mobilization of the cell adhesion glycoprotein F3/contactin to axonal surfaces is activity dependent. (11556889)
2001
35
Management of orbital lymphangioma using intralesional injection of OK-432. (10837387)
2000
36
Phylloid breast tumors and three steroid hormone receptors. (9201281)
1997
37
Transferrin receptor-independent uptake of differic transferrin by human hepatoma cells with antisense inhibition of receptor expression. (8675172)
1996
38
Enzymatic sulfation of galactose residue of keratan sulfate by chondroitin 6-sulfotransferase. (8991509)
1996
39
Persistence of neuromuscular junctions after axotomy in mice with slow Wallerian degeneration (C57BL/WldS). (7551190)
1995
40
The direct effect of injectable cyclosporine and its vehicle, cremophor, on endothelial vascular cell adhesion molecule-1 expression. Ricinoleic acid inhibits coronary artery endothelial activation. (7544037)
1995
41
Tissue-specific differences in the expression of the human ADH2 alcohol dehydrogenase gene and in binding of factors to cis-acting elements in its promoter. (8172654)
1994
42
Mechanism of inhibition of the Ca(2+)-ATPase by spermine and other polycationic compounds. (8161533)
1994
43
Identification of heat shock proteins binding to an immunodominant uveitopathogenic peptide of IRBP. (8033590)
1994
44
Possible X linked congenital mitochondrial cardiomyopathy in three families. (8487269)
1993
45
Identification and sequence analysis of the promoter for the leukocyte integrin beta-subunit (CD18): a retinoic acid-inducible gene. (1346252)
1992
46
Myxoid leiomyosarcoma of the stomach: a case report. (1805049)
1991
47
2,3-Dimercapto-1-propanesulphonate in heavy metal poisoning. (3312928)
1987
48
Farmer's lung. (5253275)
1968
49
Sydenham's chorea, a syndrome for differential diagnosis. (20260468)
1947
50
Intraocular infection with the viruses of ornithosis and feline enteritis. (20987058)
1946

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