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 50 11 46 13 52 12 48 66
Aez 46 23 52 68
Acrodermatitis Enteropathica, Zinc-Deficiency Type 50 23 68
Ae 46 52
 
Acrodermatitis Enteropathica Zinc Deficiency Type 46
Inherited Zinc Deficiency 52
Danbolt-Cross Syndrome 46
Brandt Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
acrodermatitis enteropathica:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

62
acrodermatitis enteropathica:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 201100
Disease Ontology11 DOID:0050605
Orphanet52 ORPHA37
ICD10 via Orphanet29 E83.2
MedGen35 C0221036
MeSH37 D000169

Summaries for Acrodermatitis Enteropathica

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NIH Rare Diseases:46 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 acrodermatitis and enteropathica, and has symptoms including abnormality of the eyebrow, dry skin and alopecia. 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, breast and tongue, and related mouse phenotypes are obsolete other and liver/biliary system.

UniProtKB/Swiss-Prot:68 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:69 Acrodermatitis enteropathica is an autosomal recessivemetabolic disorder affecting the uptake of zinc,... more...

Description from OMIM:50 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:

 52 (show all 31)
  • abnormality of the tongue
  • glossitis
  • furrowed tongue
  • abnormality of the eyelid
  • blepharitis
  • visual impairment
  • conjunctivitis
  • abnormality of the eyebrow
  • photophobia
  • emotional lability
  • dry skin
  • failure to thrive
  • alopecia
  • abnormality of the nail
  • ridged nail
  • paronychia
  • weight loss
  • malabsorption
  • chronic diarrhea
  • anorexia
  • cerebral cortical atrophy
  • short stature
  • poor appetite
  • abnormal blistering of the skin
  • ridged fingernail
  • erythema
  • generalized abnormality of skin
  • cheilitis
  • corneal erosion
  • pustule
  • skin ulcer

HPO human phenotypes related to Acrodermatitis Enteropathica:

(show all 41)
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 toenails 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 hypogonadism HP:0000135
23 decreased taste sensation HP:0000224
24 emotional lability HP:0000712
25 irritability HP:0000737
26 ataxia HP:0001251
27 lethargy HP:0001254
28 tremor HP:0001337
29 failure to thrive HP:0001508
30 splenomegaly HP:0001744
31 paronychia HP:0001818
32 diarrhea HP:0002014
33 hepatomegaly HP:0002240
34 alopecia of scalp HP:0002293
35 low alkaline phosphatase HP:0003282
36 short stature HP:0004322
37 poor appetite HP:0004396
38 recurrent candida infections HP:0005401
39 impaired t cell function HP:0005435
40 decreased testosterone in males HP:0008230
41 decreased testicular size HP:0008734

UMLS symptoms related to Acrodermatitis Enteropathica:


cerebellar ataxia, diarrhea, hepatomegaly, tremor, decrease in appetite, sucrose intolerance

Drugs & Therapeutics for Acrodermatitis Enteropathica

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Drugs for Acrodermatitis Enteropathica (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Zinc21547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+

Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Study of Severe Zinc DeficienciesCompletedNCT02870166

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 Type23 SLC39A4

Anatomical Context for Acrodermatitis Enteropathica

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MalaCards organs/tissues related to Acrodermatitis Enteropathica:

34
Skin, Breast, Tongue, Eye, T cells, Pancreas, Colon

Animal Models for Acrodermatitis Enteropathica or affiliated genes

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MGI Mouse Phenotypes related to Acrodermatitis Enteropathica:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539510.2SLC30A4, SLC39A4
2MP:00053708.3ALB, OTC, PLIN2, SLC39A4, SLC39A5
3MP:00053767.6ALB, OTC, PLIN2, SLC30A4, SLC39A4, SLC39A5
4MP:00053797.3ALB, OTC, PLIN2, SLC30A4, SLC39A4, SLC39A5

Publications for Acrodermatitis Enteropathica

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Articles related to Acrodermatitis Enteropathica:

(show top 50)    (show all 356)
idTitleAuthorsYear
1
Acquired acrodermatitis enteropathica as a presenting sign of celiac disease. (27222886)
2016
2
Acrodermatitis enteropathica-like skin lesions in a neonate. (23814231)
2013
3
A mouse model of acrodermatitis enteropathica: loss of intestine zinc transporter ZIP4 (Slc39a4) disrupts the stem cell niche and intestine integrity. (22737083)
2012
4
Gray hair and acrodermatitis enteropathica-like dermatitis: an unexpected presentation of cystic fibrosis. (21424670)
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
What is your diagnosis? Acquired acrodermatitis enteropathica. (18491477)
2008
10
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
11
Acrodermatitis enteropathica: zinc therapy and possible identification of a carrier state through multiple hair zinc analyses over three decades. (17205991)
2006
12
Acrodermatitis enteropathica-like eruption associated with combined nutritional deficiency. (16224175)
2005
13
Acrodermatitis enteropathica-like eruption and food allergy. (15801253)
2005
14
Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica. (12955721)
2003
15
Acrodermatitis enteropathica - lifelong follow-up and zinc monitoring. (11952674)
2002
16
The acrodermatitis enteropathica mutation transiently affects zinc metabolism in human fibroblasts. (8558304)
1996
17
Acrodermatitis enteropathica-like eruption during treatment of maple syrup urine disease: report of one case. (8942030)
1996
18
Zinc transport by fibroblasts from patients with acrodermatitis enteropathica. (2484411)
1989
19
Clinical and laboratory diagnosis of acrodermatitis enteropathica. (2691254)
1989
20
Long chain fatty acids in serum phospholipids in acrodermatitis enteropathica before and after zinc treatment: a case report. (3392358)
1988
21
Picolinic acid in acrodermatitis enteropathica: evidence for a disorder of tryptophan metabolism. (6694049)
1984
22
Serum and hair zinc as predictors of clinical symptoms in acrodermatitis enteropathica. (6429442)
1984
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
Acquired acrodermatitis enteropathica. (6786834)
1981
25
Zinc therapy of depressed cellular immunity in acrodermatitis enteropathica. (7301208)
1981
26
Is acrodermatitis enteropathica related to the absence of zinc binding ligand in bovine milk? (570352)
1979
27
The acrodermatitis enteropathica-like syndrome. (109049)
1979
28
Acrodermatitis enteropathica--a zinc deficiency state. (675401)
1978
29
Acrodermatitis enteropathica, zinc and human milk. (692949)
1978
30
Acrodermatitis enteropathica induced by iatrogenic zinc deficiency. (103205)
1978
31
Acrodermatitis enteropathica without hypozincemia. (894428)
1977
32
Gluconate zinc in acrodermatitis enteropathica. (773310)
1976
33
Letter: Acrodermatitis enteropathica and cellular immune deficiency. (57499)
1976
34
Treatment of acrodermatitis enteropathica with zinc sulfate. (776091)
1976
35
Reversible intestinal mucosal abnormality in acrodermatitis enteropathica. (952555)
1976
36
Acquired zinc deficiency. Cutaneous manifestations typical of acrodermatitis enteropathica. (817037)
1976
37
Letter: Exacerbation of acrodermatitis enteropathica by soya-bean milk feeding. (52794)
1975
38
Acrodermatitis enteropathica. Corneal involvement with histochemical and electron micrographic studies. (124566)
1975
39
Tryptophan metabolsim and serum fatty acids in acrodermatitis enteropathica. (4407531)
1974
40
Ultrastructural findings in acrodermatitis enteropathica. (4359206)
1974
41
Agammaglobulinemia with B lymphocytes in a neonate with acrodermatitis enteropathica. (4546718)
1974
42
Serum fatty acids before and after recovery from acrodermatitis enteropathica: comparison of an infant with her family. (4757538)
1973
43
Presence of -lipoprotein in serum of patients treated for acrodermatitis enteropathica (Danbolt's disease). (4343518)
1972
44
Case for diagnosis: acrodermatitis enteropathica vs sebopsoriasis. (4248273)
1970
45
Acrodermatitis enteropathica. (5823853)
1969
46
Acrodermatitis enteropathica. Report of a case in a twin with dramatic response to expressed human milk. (5318960)
1965
47
Acrodermatitis enteropathica? ulcerative colitis--progeroid physiognomy. (14005379)
1962
48
Acrodermatitis enteropathica without diarrhea. (13737316)
1961
49
Acrodermatitis enteropathica. (13322929)
1956
50
Acrodermatitis enteropathica; report of two additional cases. (18101569)
1948

Variations for Acrodermatitis Enteropathica

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UniProtKB/Swiss-Prot genetic disease variations for Acrodermatitis Enteropathica:

68
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
1late endosomeGO:00057709.1SLC30A2, SLC30A4
2cytoplasmic, membrane-bounded vesicleGO:00160238.9SLC30A2, SLC30A4, SLC39A4

Biological processes related to Acrodermatitis Enteropathica according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular response to zinc ion starvationGO:003422410.0SLC39A4, SLC39A5
2zinc II ion transmembrane importGO:00715789.9SLC39A4, SLC39A5
3cellular zinc ion homeostasisGO:00068829.7SLC39A4, SLC39A5
4zinc II ion transmembrane transportGO:00715779.5SLC30A2, SLC30A4
5response to zinc ionGO:00100438.6OTC, SLC30A2, SLC30A4

Molecular functions related to Acrodermatitis Enteropathica according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1zinc ion transmembrane transporter activityGO:00053858.3SLC30A2, SLC30A4, SLC39A4, SLC39A5

Sources for Acrodermatitis Enteropathica

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet