AEZ
MCID: ACR056
MIFTS: 53

Acrodermatitis Enteropathica, Zinc-Deficiency Type (AEZ)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Acrodermatitis Enteropathica, Zinc-Deficiency Type

MalaCards integrated aliases for Acrodermatitis Enteropathica, Zinc-Deficiency Type:

Name: Acrodermatitis Enteropathica, Zinc-Deficiency Type 58 76
Acrodermatitis Enteropathica 58 12 77 54 60 38 13 56 15 74
Aez 58 54 60 76
Acrodermatitis Enteropathica, Zinc Deficiency Type 60
Acrodermatitis Enteropathica Zinc Deficiency Type 54
Acrodermatitis Enteropathica, Zinc Deficiency 41
Inherited Zinc Deficiency 60
Danbolt-Cross Syndrome 54
Brandt Syndrome 54
Ae 54

Characteristics:

Orphanet epidemiological data:

60
acrodermatitis enteropathica
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
response to zinc supplementation
maternal breast milk is protective
distinct disorder from reduced zinc in breast milk


HPO:

33
acrodermatitis enteropathica, zinc-deficiency type:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Acrodermatitis Enteropathica, Zinc-Deficiency Type

NIH Rare Diseases : 54 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.

MalaCards based summary : Acrodermatitis Enteropathica, Zinc-Deficiency Type, also known as acrodermatitis enteropathica, is related to enteropathica and glucagonoma, and has symptoms including tremor, diarrhea and decrease in appetite. An important gene associated with Acrodermatitis Enteropathica, Zinc-Deficiency Type is SLC39A4 (Solute Carrier Family 39 Member 4), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and NRF2 pathway. The drug Zinc has been mentioned in the context of this disorder. Affiliated tissues include skin, breast and tongue, and related phenotypes are malabsorption and short stature

Disease Ontology : 12 A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has material basis in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency.

UniProtKB/Swiss-Prot : 76 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 : 77 Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc... more...

Description from OMIM: 201100

Related Diseases for Acrodermatitis Enteropathica, Zinc-Deficiency Type

Diseases related to Acrodermatitis Enteropathica, Zinc-Deficiency Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 enteropathica 31.9 SLC30A4 SLC39A4
2 glucagonoma 11.7
3 acrodermatitis 11.4
4 zinc deficiency, transient neonatal 11.3
5 aromatase excess syndrome 11.1
6 angioedema induced by ace inhibitors 11.1
7 cystic fibrosis 10.6
8 anorexia nervosa 10.5
9 dermatitis 10.5
10 diarrhea 10.4
11 maple syrup urine disease 10.4
12 celiac disease 1 10.3
13 3-methylglutaconic aciduria, type iii 10.3
14 acute lymphocytic leukemia 10.3
15 leukemia 10.3
16 pemphigus foliaceus 10.3
17 lymphocytic leukemia 10.3
18 lactose intolerance 10.3
19 short bowel syndrome 10.3
20 agammaglobulinemia 10.3
21 acquired immunodeficiency syndrome 10.3
22 pemphigus 10.3
23 dengue virus 10.2
24 chikungunya 10.2
25 epilepsy 10.2
26 respiratory failure 10.2
27 encephalitis 10.2
28 breast cancer 10.2
29 blood group, gerbich system 10.1
30 alcohol dependence 10.1
31 down syndrome 10.1
32 abetalipoproteinemia 10.1
33 enterocolitis 10.1
34 hartnup disorder 10.1
35 dermatitis, atopic 10.1
36 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1
37 alcoholic liver cirrhosis 10.1
38 cataract 10.1
39 crohn's disease 10.1
40 ulcerative colitis 10.1
41 colitis 10.1
42 keratomalacia 10.1
43 kwashiorkor 10.1
44 optic nerve disease 10.1
45 melanoma 10.1
46 hypogonadism 10.1
47 food allergy 10.1
48 pancreatitis 10.1
49 inherited metabolic disorder 10.1
50 hypogonadotropism 10.1

Graphical network of the top 20 diseases related to Acrodermatitis Enteropathica, Zinc-Deficiency Type:



Diseases related to Acrodermatitis Enteropathica, Zinc-Deficiency Type

Symptoms & Phenotypes for Acrodermatitis Enteropathica, Zinc-Deficiency Type

Human phenotypes related to Acrodermatitis Enteropathica, Zinc-Deficiency Type:

60 33 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 60 33 hallmark (90%) Very frequent (99-80%) HP:0002024
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 abnormal blistering of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008066
4 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
5 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
6 cerebral cortical atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002120
7 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
8 chronic diarrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002028
9 pustule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200039
10 abnormal eyebrow morphology 33 hallmark (90%) HP:0000534
11 emotional lability 60 33 frequent (33%) Frequent (79-30%) HP:0000712
12 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
13 photophobia 60 33 frequent (33%) Frequent (79-30%) HP:0000613
14 skin ulcer 60 33 frequent (33%) Frequent (79-30%) HP:0200042
15 blepharitis 60 33 frequent (33%) Frequent (79-30%) HP:0000498
16 cheilitis 60 33 frequent (33%) Frequent (79-30%) HP:0100825
17 conjunctivitis 60 33 frequent (33%) Frequent (79-30%) HP:0000509
18 furrowed tongue 60 33 frequent (33%) Frequent (79-30%) HP:0000221
19 ridged nail 60 33 frequent (33%) Frequent (79-30%) HP:0001807
20 ridged fingernail 60 33 frequent (33%) Frequent (79-30%) HP:0008402
21 glossitis 60 33 frequent (33%) Frequent (79-30%) HP:0000206
22 paronychia 60 33 frequent (33%) Frequent (79-30%) HP:0001818
23 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
24 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
25 corneal erosion 60 33 occasional (7.5%) Occasional (29-5%) HP:0200020
26 anorexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002039
27 poor appetite 60 33 occasional (7.5%) Occasional (29-5%) HP:0004396
28 ataxia 33 HP:0001251
29 tremor 33 HP:0001337
30 splenomegaly 33 HP:0001744
31 hepatomegaly 33 HP:0002240
32 generalized abnormality of skin 60 Very frequent (99-80%)
33 abnormality of the nail 60 Frequent (79-30%)
34 irritability 33 HP:0000737
35 hypogonadism 33 HP:0000135
36 abnormality of the eyebrow 60 Very frequent (99-80%)
37 abnormality of the eyelid 60 Very frequent (99-80%)
38 decreased testicular size 33 HP:0008734
39 decreased serum testosterone level 33 HP:0040171
40 impaired t cell function 33 HP:0005435
41 diarrhea 33 HP:0002014
42 lethargy 33 HP:0001254
43 abnormality of the tongue 60 Frequent (79-30%)
44 alopecia of scalp 33 HP:0002293
45 decreased taste sensation 33 HP:0000224
46 recurrent candida infections 33 HP:0005401
47 low alkaline phosphatase 33 HP:0003282

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
irritibility

Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Immunology:
impaired t cell function
frequent candida infections

Endocrine Features:
decreased testosterone in males
delayed secondary sexual characteristics in males

Skin Nails Hair Hair:
alopecia of scalp
alopecia of eyebrows
alopecia of eyelashes
decreased levels of zinc in hair

Laboratory Abnormalities:
decreased serum alkaline phosphatase
decreased plasma zinc levels
decreased mucosal alkaline phosphatase

Skin Nails Hair Skin:
bullous, pustular dermatitis of extremities, oral, anal, and genital areas
dermatitis, symmetric pattern
impaired would healing

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Genitourinary Internal Genitalia Male:
decreased testicular size

Abdomen Gastrointestinal:
diarrhea
poor appetite
decreased intestinal uptake of zinc

Skin Nails Hair Nails:
paronychia

Neurologic Central Nervous System:
cerebellar ataxia
mental lethargy
tremors

Head And Neck Mouth:
impaired taste

Skin Nails Hair Skin Histology:
spongiotic epidermis
necrosis with inflammation

Clinical features from OMIM:

201100

UMLS symptoms related to Acrodermatitis Enteropathica, Zinc-Deficiency Type:


tremor, diarrhea, decrease in appetite, cerebellar ataxia

MGI Mouse Phenotypes related to Acrodermatitis Enteropathica, Zinc-Deficiency Type:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.02 SLC30A2 SLC30A4 SLC39A4 SLC39A5 TMPO

Drugs & Therapeutics for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational 7440-66-6 32051

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Study of Severe Zinc Deficiencies Completed NCT02870166

Search NIH Clinical Center for Acrodermatitis Enteropathica, Zinc-Deficiency Type

Genetic Tests for Acrodermatitis Enteropathica, Zinc-Deficiency Type

Anatomical Context for Acrodermatitis Enteropathica, Zinc-Deficiency Type

MalaCards organs/tissues related to Acrodermatitis Enteropathica, Zinc-Deficiency Type:

42
Skin, Breast, Tongue, Prostate, T Cells, Kidney, Eye

Publications for Acrodermatitis Enteropathica, Zinc-Deficiency Type

Articles related to Acrodermatitis Enteropathica, Zinc-Deficiency Type:

(show top 50) (show all 387)
# Title Authors Year
1
Zn-DTSM, A Zinc Ionophore with Therapeutic Potential for Acrodermatitis Enteropathica? ( 30669644 )
2019
2
Acquired acrodermatitis enteropathica secondary to sleeve gastrectomy. ( 30688216 )
2019
3
Novel nonsense mutation of the SLC39A4 gene in a family with atypical acrodermatitis enteropathica. ( 30980548 )
2019
4
50 Years Ago in The Journal of Pediatrics: Acrodermatitis Enteropathica: Defective Metabolism of Unsaturated Fatty Acids. ( 31027618 )
2019
5
Acrodermatitis Enteropathica Presenting with Recurrent Diarrhea and Vomiting in an Infant Reluctant to Breastfeed, and a Peculiar Erythemato-Eczematous Eruption around the Oral and Anogenital Regions. ( 29989544 )
2018
6
Acrodermatitis enteropathica from zinc-deficient total parenteral nutrition. ( 30063773 )
2018
7
Acquired bullous acrodermatitis enteropathica as a histologic mimic of pemphigus foliaceus in a patient on parenteral nutrition. ( 30142747 )
2018
8
Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East. ( 30174688 )
2018
9
Acrodermatitis enteropathica: the need for sustained high dose zinc supplementation. ( 30677805 )
2018
10
Sustained Need for High-Dose Zinc Supplementation in Children With Acrodermatitis Enteropathica. ( 28056538 )
2018
11
ACRODERMATITIS ENTEROPATHICA: CLINICAL MANIFESTATIONS AND PEDIATRIC DIAGNOSIS. ( 29412435 )
2018
12
An Acrodermatitis Enteropathica-Associated Zn Transporter, ZIP4, Regulates Human Epidermal Homeostasis. ( 27940220 )
2017
13
First report of SLC39A4 mutation in acrodermatitis enteropathica family from the Middle East. ( 28188634 )
2017
14
Acquired Acrodermatitis Enteropathica Syndrome in a Kidney Transplant Receipt: A Case Report. ( 28340843 )
2017
15
Adult autoimmune enteropathy presenting initially with acquired Acrodermatitis Enteropathica: a case report. ( 28521835 )
2017
16
Diagnosis of acrodermatitis enteropathica in resource limited settings. ( 28768674 )
2017
17
Acquired Acrodermatitis Enteropathica: A Case Study. ( 29152424 )
2017
18
Acrodermatitis enteropathica in a patient with short bowel syndrome. ( 29232432 )
2017
19
Acquired bullous acrodermatitis enteropathica as a histologic mimic of pemphigus foliaceus in a patient on parenteral nutrition. ( 29469698 )
2017
20
One recurrent homozygous mutation of SLC39A4 in a girl with acrodermatitis enteropathica from southwestern China. ( 24962159 )
2016
21
Secondary acrodermatitis enteropathica-like lesions in a child with newly diagnosed coeliac disease. ( 25540873 )
2016
22
Identification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica. ( 26351177 )
2016
23
Clinical utility gene card for: acrodermatitis enteropathica - update 2015. ( 26443269 )
2016
24
Severe acquired acrodermatitis enteropathica caused by anorexia nervosa. ( 26661624 )
2016
25
Acrodermatitis enteropathica: A novel mutation of the SLC39A4 gene in a Turkish boy. ( 26916651 )
2016
26
Acrodermatitis Enteropathica: A Case Report. ( 27196457 )
2016
27
Acquired acrodermatitis enteropathica as a presenting sign of celiac disease. ( 27222886 )
2016
28
Isoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica. ( 27567652 )
2016
29
Acquired acrodermatitis enteropathica after gastric bypass surgery responsive to IV supplementation. ( 28329567 )
2016
30
Acrodermatitis enteropathica in a pair of twins. ( 28435477 )
2016
31
Genetic causes and gene–nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples. ( 25468189 )
2015
32
Acrodermatitis enteropathica in an infant with normal zinc levels. ( 25566908 )
2015
33
Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels. ( 25780817 )
2015
34
Bullous acrodermatitis enteropathica: case report of a unique clinical presentation and review of the literature. ( 25933075 )
2015
35
Acrodermatitis enteropathica and other nutritional diseases of the folds (intertriginous areas). ( 26051055 )
2015
36
Acrodermatitis enteropathica in an adult. ( 26244999 )
2015
37
Image of the Month. Celiac disease presenting with acquired acrodermatitis enteropathica. ( 26465901 )
2015
38
Phrynoderma and acquired acrodermatitis enteropathica in breastfeeding women after bariatric surgery. ( 26513075 )
2015
39
Cow's Milk Protein Allergy Mimicking Acrodermatitis Enteropathica. ( 24783119 )
2014
40
Development of a plasma zinc concentration cutoff to identify individuals with severe zinc deficiency based on results from adults undergoing experimental severe dietary zinc restriction and individuals with acrodermatitis enteropathica. ( 24850624 )
2014
41
Images in clinical medicine. Acquired acrodermatitis enteropathica. ( 24988559 )
2014
42
Acrodermatitis enteropathica in three siblings. ( 23442482 )
2013
43
Periorificial dermatitis and erosive inguinal plaques in a 57-year-old woman. Acquired zinc deficiency acrodermatitis enteropathica (ADE). ( 23552816 )
2013
44
Acrodermatitis enteropathica-like skin lesions in a neonate. ( 23814231 )
2013
45
Clioquinol synergistically augments rescue by zinc supplementation in a mouse model of acrodermatitis enteropathica. ( 24015258 )
2013
46
Images in emergency medicine. Child with diarrhea and rash. Acrodermatitis enteropathica. ( 24054094 )
2013
47
Transient symptomatic zinc deficiency resembling acrodermatitis enteropathica in a breast-fed premature infant: case report and brief review of the literature. ( 24442054 )
2013
48
Clinical utility gene card for: acrodermatitis enteropathica. ( 22166942 )
2012
49
Acrodermatitis enteropathica. ( 22486149 )
2012
50
A mouse model of acrodermatitis enteropathica: loss of intestine zinc transporter ZIP4 (Slc39a4) disrupts the stem cell niche and intestine integrity. ( 22737083 )
2012

Variations for Acrodermatitis Enteropathica, Zinc-Deficiency Type

UniProtKB/Swiss-Prot genetic disease variations for Acrodermatitis Enteropathica, Zinc-Deficiency Type:

76
# Symbol AA change Variation ID SNP ID
1 SLC39A4 p.Arg95Cys VAR_023629 rs121434292
2 SLC39A4 p.Asn106Lys VAR_023630 rs121434290
3 SLC39A4 p.Pro200Leu VAR_023632 rs121434287
4 SLC39A4 p.Gln303His VAR_023634 rs121434293
5 SLC39A4 p.Gly330Asp VAR_023636 rs121434291
6 SLC39A4 p.Val372Pro VAR_023638
7 SLC39A4 p.Gly374Arg VAR_023639 rs121434289
8 SLC39A4 p.Gly526Arg VAR_023641 rs121434288
9 SLC39A4 p.Gly630Arg VAR_023642

ClinVar genetic disease variations for Acrodermatitis Enteropathica, Zinc-Deficiency Type:

6 (show top 50) (show all 99)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC39A4 SLC39A4, 5-BP DEL deletion Pathogenic
2 SLC39A4 SLC39A4, 4-BP DEL deletion Pathogenic
3 SLC39A4 SLC39A4, IVS1AS, G-A, -19 single nucleotide variant Pathogenic
4 SLC39A4 NM_130849.3(SLC39A4): c.599C> T (p.Pro200Leu) single nucleotide variant Pathogenic rs121434287 GRCh37 Chromosome 8, 145640679: 145640679
5 SLC39A4 NM_130849.3(SLC39A4): c.599C> T (p.Pro200Leu) single nucleotide variant Pathogenic rs121434287 GRCh38 Chromosome 8, 144415295: 144415295
6 SLC39A4 NM_130849.3(SLC39A4): c.1576G> A (p.Gly526Arg) single nucleotide variant Pathogenic rs121434288 GRCh37 Chromosome 8, 145638672: 145638672
7 SLC39A4 NM_130849.3(SLC39A4): c.1576G> A (p.Gly526Arg) single nucleotide variant Pathogenic rs121434288 GRCh38 Chromosome 8, 144413288: 144413288
8 SLC39A4 NM_130849.3(SLC39A4): c.1120G> A (p.Gly374Arg) single nucleotide variant Pathogenic rs121434289 GRCh37 Chromosome 8, 145639675: 145639675
9 SLC39A4 NM_130849.3(SLC39A4): c.1120G> A (p.Gly374Arg) single nucleotide variant Pathogenic rs121434289 GRCh38 Chromosome 8, 144414291: 144414291
10 SLC39A4 NM_130849.3(SLC39A4): c.318C> A (p.Asn106Lys) single nucleotide variant Pathogenic rs121434290 GRCh37 Chromosome 8, 145641350: 145641350
11 SLC39A4 NM_130849.3(SLC39A4): c.318C> A (p.Asn106Lys) single nucleotide variant Pathogenic rs121434290 GRCh38 Chromosome 8, 144415966: 144415966
12 SLC39A4 SLC39A4, 2-KB DEL, UPSTREAM REGION deletion Pathogenic
13 SLC39A4 NM_130849.3(SLC39A4): c.989G> A (p.Gly330Asp) single nucleotide variant Pathogenic rs121434291 GRCh37 Chromosome 8, 145639806: 145639806
14 SLC39A4 NM_130849.3(SLC39A4): c.989G> A (p.Gly330Asp) single nucleotide variant Pathogenic rs121434291 GRCh38 Chromosome 8, 144414422: 144414422
15 SLC39A4 SLC39A4, 53-BP INS, NT1017 insertion Pathogenic
16 SLC39A4 NM_130849.3(SLC39A4): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic rs121434292 GRCh37 Chromosome 8, 145641385: 145641385
17 SLC39A4 NM_130849.3(SLC39A4): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic rs121434292 GRCh38 Chromosome 8, 144416001: 144416001
18 SLC39A4 NM_130849.3(SLC39A4): c.909G> C (p.Gln303His) single nucleotide variant Pathogenic rs121434293 GRCh37 Chromosome 8, 145640176: 145640176
19 SLC39A4 NM_130849.3(SLC39A4): c.909G> C (p.Gln303His) single nucleotide variant Pathogenic rs121434293 GRCh38 Chromosome 8, 144414792: 144414792
20 SLC39A4 NM_130849.3(SLC39A4): c.1426G> C (p.Glu476Gln) single nucleotide variant Uncertain significance rs201400971 GRCh37 Chromosome 8, 145638945: 145638945
21 SLC39A4 NM_130849.3(SLC39A4): c.1426G> C (p.Glu476Gln) single nucleotide variant Uncertain significance rs201400971 GRCh38 Chromosome 8, 144413561: 144413561
22 SLC39A4 NM_130849.3(SLC39A4): c.1234G> A (p.Ala412Thr) single nucleotide variant Uncertain significance rs781956407 GRCh37 Chromosome 8, 145639395: 145639395
23 SLC39A4 NM_130849.3(SLC39A4): c.1234G> A (p.Ala412Thr) single nucleotide variant Uncertain significance rs781956407 GRCh38 Chromosome 8, 144414011: 144414011
24 SLC39A4 NM_130849.3(SLC39A4): c.1114C> G (p.Leu372Val) single nucleotide variant Benign rs1871534 GRCh37 Chromosome 8, 145639681: 145639681
25 SLC39A4 NM_130849.3(SLC39A4): c.1114C> G (p.Leu372Val) single nucleotide variant Benign rs1871534 GRCh38 Chromosome 8, 144414297: 144414297
26 SLC39A4 NM_130849.3(SLC39A4): c.1002G> A (p.Thr334=) single nucleotide variant Uncertain significance rs149524471 GRCh37 Chromosome 8, 145639793: 145639793
27 SLC39A4 NM_130849.3(SLC39A4): c.1002G> A (p.Thr334=) single nucleotide variant Uncertain significance rs149524471 GRCh38 Chromosome 8, 144414409: 144414409
28 SLC39A4 NM_130849.3(SLC39A4): c.594C> T (p.Ala198=) single nucleotide variant Uncertain significance rs782355343 GRCh37 Chromosome 8, 145640684: 145640684
29 SLC39A4 NM_130849.3(SLC39A4): c.594C> T (p.Ala198=) single nucleotide variant Uncertain significance rs782355343 GRCh38 Chromosome 8, 144415300: 144415300
30 SLC39A4 NM_130849.3(SLC39A4): c.532A> T (p.Ser178Cys) single nucleotide variant Uncertain significance rs113717209 GRCh37 Chromosome 8, 145640746: 145640746
31 SLC39A4 NM_130849.3(SLC39A4): c.532A> T (p.Ser178Cys) single nucleotide variant Uncertain significance rs113717209 GRCh38 Chromosome 8, 144415362: 144415362
32 SLC39A4 NM_130849.3(SLC39A4): c.257C> T (p.Pro86Leu) single nucleotide variant Uncertain significance rs187080747 GRCh37 Chromosome 8, 145641411: 145641411
33 SLC39A4 NM_130849.3(SLC39A4): c.257C> T (p.Pro86Leu) single nucleotide variant Uncertain significance rs187080747 GRCh38 Chromosome 8, 144416027: 144416027
34 SLC39A4 NM_130849.3(SLC39A4): c.251C> T (p.Pro84Leu) single nucleotide variant Benign/Likely benign rs117535951 GRCh37 Chromosome 8, 145641417: 145641417
35 SLC39A4 NM_130849.3(SLC39A4): c.251C> T (p.Pro84Leu) single nucleotide variant Benign/Likely benign rs117535951 GRCh38 Chromosome 8, 144416033: 144416033
36 SLC39A4 NM_130849.3(SLC39A4): c.1495A> G (p.Met499Val) single nucleotide variant Uncertain significance rs145832695 GRCh37 Chromosome 8, 145638753: 145638753
37 SLC39A4 NM_130849.3(SLC39A4): c.1495A> G (p.Met499Val) single nucleotide variant Uncertain significance rs145832695 GRCh38 Chromosome 8, 144413369: 144413369
38 SLC39A4 NM_130849.3(SLC39A4): c.1426G> A (p.Glu476Lys) single nucleotide variant Uncertain significance rs201400971 GRCh37 Chromosome 8, 145638945: 145638945
39 SLC39A4 NM_130849.3(SLC39A4): c.1426G> A (p.Glu476Lys) single nucleotide variant Uncertain significance rs201400971 GRCh38 Chromosome 8, 144413561: 144413561
40 SLC39A4 NM_130849.3(SLC39A4): c.1150-15G> A single nucleotide variant Uncertain significance rs200673705 GRCh37 Chromosome 8, 145639494: 145639494
41 SLC39A4 NM_130849.3(SLC39A4): c.1150-15G> A single nucleotide variant Uncertain significance rs200673705 GRCh38 Chromosome 8, 144414110: 144414110
42 SLC39A4 NM_130849.3(SLC39A4): c.1141A> G (p.Thr381Ala) single nucleotide variant Likely benign rs75920625 GRCh37 Chromosome 8, 145639654: 145639654
43 SLC39A4 NM_130849.3(SLC39A4): c.1141A> G (p.Thr381Ala) single nucleotide variant Likely benign rs75920625 GRCh38 Chromosome 8, 144414270: 144414270
44 SLC39A4 NM_130849.3(SLC39A4): c.804+9C> T single nucleotide variant Uncertain significance rs200693339 GRCh37 Chromosome 8, 145640349: 145640349
45 SLC39A4 NM_130849.3(SLC39A4): c.804+9C> T single nucleotide variant Uncertain significance rs200693339 GRCh38 Chromosome 8, 144414965: 144414965
46 SLC39A4 NM_130849.3(SLC39A4): c.803C> T (p.Thr268Met) single nucleotide variant Uncertain significance rs185494598 GRCh37 Chromosome 8, 145640359: 145640359
47 SLC39A4 NM_130849.3(SLC39A4): c.803C> T (p.Thr268Met) single nucleotide variant Uncertain significance rs185494598 GRCh38 Chromosome 8, 144414975: 144414975
48 SLC39A4 NM_130849.3(SLC39A4): c.615C> T (p.Phe205=) single nucleotide variant Uncertain significance rs201681875 GRCh37 Chromosome 8, 145640663: 145640663
49 SLC39A4 NM_130849.3(SLC39A4): c.615C> T (p.Phe205=) single nucleotide variant Uncertain significance rs201681875 GRCh38 Chromosome 8, 144415279: 144415279
50 SLC39A4 NM_130849.3(SLC39A4): c.592G> A (p.Ala198Thr) single nucleotide variant Uncertain significance rs781818806 GRCh37 Chromosome 8, 145640686: 145640686

Expression for Acrodermatitis Enteropathica, Zinc-Deficiency Type

Search GEO for disease gene expression data for Acrodermatitis Enteropathica, Zinc-Deficiency Type.

Pathways for Acrodermatitis Enteropathica, Zinc-Deficiency Type

Pathways related to Acrodermatitis Enteropathica, Zinc-Deficiency Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 SLC30A2 SLC30A5 SLC39A4 SLC39A5
2 11.29 SLC39A13 SLC39A4 SLC39A5
3
Show member pathways
11.08 SLC30A2 SLC30A4 SLC30A5 SLC39A13 SLC39A4 SLC39A5

GO Terms for Acrodermatitis Enteropathica, Zinc-Deficiency Type

Cellular components related to Acrodermatitis Enteropathica, Zinc-Deficiency Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.17 SLC30A2 SLC30A4 SLC30A5 SLC39A13 SLC39A4 SLC39A5
2 late endosome GO:0005770 8.96 SLC30A2 SLC30A4

Biological processes related to Acrodermatitis Enteropathica, Zinc-Deficiency Type according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 SLC30A2 SLC30A4 SLC30A5 SLC39A13 SLC39A4 SLC39A5
2 transmembrane transport GO:0055085 9.8 SLC30A2 SLC30A4 SLC30A5 SLC39A13 SLC39A4 SLC39A5
3 cation transport GO:0006812 9.65 SLC30A2 SLC30A4 SLC30A5
4 metal ion transport GO:0030001 9.58 SLC39A13 SLC39A4 SLC39A5
5 response to zinc ion GO:0010043 9.56 SLC30A2 SLC30A4 SLC30A5 SLC39A13
6 zinc ion import across plasma membrane GO:0071578 9.49 SLC39A4 SLC39A5
7 regulation of sequestering of zinc ion GO:0061088 9.46 SLC30A2 SLC30A4
8 cellular zinc ion homeostasis GO:0006882 9.46 SLC30A5 SLC39A13 SLC39A4 SLC39A5
9 cellular response to zinc ion starvation GO:0034224 9.43 SLC39A4 SLC39A5
10 zinc ion transmembrane transport GO:0071577 9.26 SLC30A2 SLC30A4 SLC30A5 SLC39A13
11 zinc ion transport GO:0006829 9.1 SLC30A2 SLC30A4 SLC30A5 SLC39A13 SLC39A4 SLC39A5

Molecular functions related to Acrodermatitis Enteropathica, Zinc-Deficiency Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation transmembrane transporter activity GO:0008324 9.33 SLC30A2 SLC30A4 SLC30A5
2 metal ion transmembrane transporter activity GO:0046873 9.13 SLC39A13 SLC39A4 SLC39A5
3 zinc ion transmembrane transporter activity GO:0005385 9.1 SLC30A2 SLC30A4 SLC30A5 SLC39A13 SLC39A4 SLC39A5

Sources for Acrodermatitis Enteropathica, Zinc-Deficiency Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....