MCID: ACR056
MIFTS: 52

Acrodermatitis Enteropathica, Zinc-Deficiency Type

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

Aliases & Classifications for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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

Name: Acrodermatitis Enteropathica, Zinc-Deficiency Type 57 75
Acrodermatitis Enteropathica 57 12 76 53 59 37 13 55 15 73
Aez 57 53 59 75
Acrodermatitis Enteropathica, Zinc Deficiency Type 59
Acrodermatitis Enteropathica Zinc Deficiency Type 53
Acrodermatitis Enteropathica, Zinc Deficiency 40
Inherited Zinc Deficiency 59
Danbolt-Cross Syndrome 53
Brandt Syndrome 53
Ae 53

Characteristics:

Orphanet epidemiological data:

59
acrodermatitis enteropathica
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
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:

32
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 : 53 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 la crosse encephalitis, and has symptoms including cerebellar ataxia, diarrhea and tremor. 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 emotional lability and failure to thrive

UniProtKB/Swiss-Prot : 75 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 : 76 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 all 32)
# Related Disease Score Top Affiliating Genes
1 enteropathica 29.5 SLC30A4 SLC39A4
2 la crosse encephalitis 11.2
3 zinc deficiency, transient neonatal 11.1
4 angioedema induced by ace inhibitors 10.9
5 aromatase excess syndrome 10.9
6 acrodermatitis 10.0
7 breast cancer 10.0
8 endometriosis 9.9
9 pulmonary tuberculosis 9.9
10 polycystic kidney disease 9.9
11 prostate cancer 9.9
12 chikungunya 9.9
13 alveolar echinococcosis 9.9
14 prostatitis 9.9
15 echinococcosis 9.9
16 encephalitis 9.9
17 colorectal cancer 9.7
18 esterase b 9.7
19 tracheoesophageal fistula with or without esophageal atresia 9.7
20 dengue virus 9.7
21 dengue disease 9.7
22 mucositis 9.7
23 esophageal atresia 9.7
24 respiratory failure 9.7
25 keratomalacia 9.7
26 esophagitis 9.7
27 transitional cell carcinoma 9.7
28 neuronitis 9.7
29 influenza 9.7
30 venezuelan equine encephalitis 9.7
31 tracheoesophageal fistula 9.7
32 3-methylglutaconic aciduria, type iii 9.7

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
irritibility

AbdomenSpleen:
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

GenitourinaryInternal GenitaliaMale:
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

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

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 59 32 frequent (33%) Frequent (79-30%) HP:0000712
2 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
3 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
4 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
7 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
8 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
9 corneal erosion 59 32 occasional (7.5%) Occasional (29-5%) HP:0200020
10 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
11 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
12 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
13 anorexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002039
14 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
15 blepharitis 59 32 frequent (33%) Frequent (79-30%) HP:0000498
16 cheilitis 59 32 frequent (33%) Frequent (79-30%) HP:0100825
17 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
18 conjunctivitis 59 32 frequent (33%) Frequent (79-30%) HP:0000509
19 chronic diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002028
20 furrowed tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000221
21 ridged nail 59 32 frequent (33%) Frequent (79-30%) HP:0001807
22 ridged fingernail 59 32 frequent (33%) Frequent (79-30%) HP:0008402
23 glossitis 59 32 frequent (33%) Frequent (79-30%) HP:0000206
24 pustule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200039
25 paronychia 59 32 frequent (33%) Frequent (79-30%) HP:0001818
26 poor appetite 59 32 occasional (7.5%) Occasional (29-5%) HP:0004396
27 ataxia 32 HP:0001251
28 tremor 32 HP:0001337
29 splenomegaly 32 HP:0001744
30 hepatomegaly 32 HP:0002240
31 generalized abnormality of skin 59 Very frequent (99-80%)
32 abnormality of the nail 59 Frequent (79-30%)
33 irritability 32 HP:0000737
34 hypogonadism 32 HP:0000135
35 abnormality of the eyebrow 59 Very frequent (99-80%)
36 abnormality of the eyelid 59 Very frequent (99-80%)
37 decreased testicular size 32 HP:0008734
38 impaired t cell function 32 HP:0005435
39 diarrhea 32 HP:0002014
40 lethargy 32 HP:0001254
41 abnormality of the tongue 59 Frequent (79-30%)
42 decreased testosterone in males 32 HP:0008230
43 alopecia of scalp 32 HP:0002293
44 decreased taste sensation 32 HP:0000224
45 recurrent candida infections 32 HP:0005401
46 low alkaline phosphatase 32 HP:0003282
47 abnormal eyebrow morphology 32 hallmark (90%) HP:0000534

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


cerebellar ataxia, diarrhea, tremor, decrease in appetite

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

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 SLC39A5 TMPO SLC39A4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.75 SLC39A5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.75 SLC39A4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.75 TMPO
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.75 SLC39A5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.75 TMPO
7 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.75 TMPO
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.75 SLC39A5 SLC39A4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.75 TMPO
10 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.75 SLC39A5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.75 SLC39A4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.75 TMPO
13 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.75 SLC39A5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.75 SLC39A4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.75 SLC39A4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.75 SLC39A5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.75 TMPO
18 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.75 SLC39A5
19 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.75 SLC39A4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.75 SLC39A5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.75 SLC39A4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.75 SLC39A4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.75 TMPO
24 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.75 SLC39A4

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 23994

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:

41
Skin, Breast, Tongue, T Cells, Kidney, Colon, Pancreas

Publications for Acrodermatitis Enteropathica, Zinc-Deficiency Type

Articles related to Acrodermatitis Enteropathica, Zinc-Deficiency Type:

(show top 50) (show all 371)
# Title Authors Year
1
ACRODERMATITIS ENTEROPATHICA: CLINICAL MANIFESTATIONS AND PEDIATRIC DIAGNOSIS. ( 29412435 )
2018
2
Acrodermatitis, Enteropathica ( 28722865 )
2017
3
Diagnosis of acrodermatitis enteropathica in resource limited settings. ( 28768674 )
2017
4
Adult autoimmune enteropathy presenting initially with acquired Acrodermatitis Enteropathica: a case report. ( 28521835 )
2017
5
Acquired Acrodermatitis Enteropathica Syndrome in a Kidney Transplant Receipt: A Case Report. ( 28340843 )
2017
6
First report of SLC39A4 mutation in acrodermatitis enteropathica family from the Middle East. ( 28188634 )
2017
7
Acquired Acrodermatitis Enteropathica: A Case Study. ( 29152424 )
2017
8
Acrodermatitis enteropathica in a patient with short bowel syndrome. ( 29232432 )
2017
9
Sustained Need for High-Dose Zinc Supplementation in Children With Acrodermatitis Enteropathica. ( 28056538 )
2017
10
Acquired bullous acrodermatitis enteropathica as a histologic mimic of pemphigus foliaceus in a patient on parenteral nutrition. ( 29469698 )
2017
11
An acrodermatitis enteropathica-associated Zn transporter, ZIP4, regulates human epidermal homeostasis. ( 27940220 )
2016
12
Acrodermatitis Enteropathica: A Case Report. ( 27196457 )
2016
13
Acrodermatitis enteropathica: A novel mutation of the SLC39A4 gene in a Turkish boy. ( 26916651 )
2016
14
Acrodermatitis enteropathica in a pair of twins. ( 28435477 )
2016
15
Severe acquired acrodermatitis enteropathica caused by anorexia nervosa. ( 26661624 )
2016
16
Acquired acrodermatitis enteropathica as a presenting sign of celiac disease. ( 27222886 )
2016
17
Acquired acrodermatitis enteropathica after gastric bypass surgery responsive to IV supplementation. ( 28329567 )
2016
18
Isoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica. ( 27567652 )
2016
19
Phrynoderm und erworbene Acrodermatitis enteropathica bei stillenden Frauen nach bariatrischer Chirurgie. ( 26513074 )
2015
20
Acrodermatitis enteropathica and other nutritional diseases of the folds (intertriginous areas). ( 26051055 )
2015
21
Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels. ( 25780817 )
2015
22
Acrodermatitis enteropathica in an infant with normal zinc levels. ( 25566908 )
2015
23
Phrynoderma and acquired acrodermatitis enteropathica in breastfeeding women after bariatric surgery. ( 26513075 )
2015
24
Acrodermatitis enteropathica in an adult. ( 26244999 )
2015
25
Celiac Disease Presenting With Acquired Acrodermatitis Enteropathica. ( 26465901 )
2015
26
Bullous acrodermatitis enteropathica: case report of a unique clinical presentation and review of the literature. ( 25933075 )
2015
27
Identification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica. ( 26351177 )
2015
28
Genetic causes and genea89nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples. ( 25468189 )
2015
29
Clinical utility gene card for: acrodermatitis enteropathica - update 2015. ( 26443269 )
2015
30
One recurrent homozygous mutation of SLC39A4 in a girl with acrodermatitis enteropathica from southwestern China. ( 24962159 )
2014
31
Secondary acrodermatitis enteropathica-like lesions in a child with newly diagnosed coeliac disease. ( 25540873 )
2014
32
Cow's Milk Protein Allergy Mimicking Acrodermatitis Enteropathica. ( 24783119 )
2014
33
Images in clinical medicine. Acquired acrodermatitis enteropathica. ( 24988559 )
2014
34
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
35
Images in emergency medicine. Child with diarrhea and rash. Acrodermatitis enteropathica. ( 24054094 )
2013
36
Acrodermatitis enteropathica-like skin lesions in a neonate. ( 23814231 )
2013
37
Clioquinol synergistically augments rescue by zinc supplementation in a mouse model of acrodermatitis enteropathica. ( 24015258 )
2013
38
Transient symptomatic zinc deficiency resembling acrodermatitis enteropathica in a breast-fed premature infant: case report and brief review of the literature. ( 24442054 )
2013
39
Acrodermatitis enteropathica in three siblings. ( 23442482 )
2013
40
Periorificial dermatitis and erosive inguinal plaques in a 57-year-old woman. Acquired zinc deficiency acrodermatitis enteropathica (ADE). ( 23552816 )
2013
41
Acrodermatitis enteropathica. ( 22486149 )
2012
42
Think zinc deficiency: acquired acrodermatitis enteropathica due to poor diet and common medications. ( 22911205 )
2012
43
Two compound heterozygous novel SLC39A4 mutations in generalized eczematoid acrodermatitis enteropathica. ( 23228939 )
2012
44
A mouse model of acrodermatitis enteropathica: loss of intestine zinc transporter ZIP4 (Slc39a4) disrupts the stem cell niche and intestine integrity. ( 22737083 )
2012
45
A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene. ( 23430849 )
2012
46
Clinical utility gene card for: acrodermatitis enteropathica. ( 22166942 )
2012
47
Acrodermatitis enteropathica during adequate enteral nutrition. ( 22038206 )
2012
48
Acrodermatitis enteropathica in a 9 month old infant. ( 21598821 )
2011
49
A case of acrodermatitis enteropathica localized on the hands and feet with a normal serum zinc level. ( 22028583 )
2011
50
Acrodermatitis enteropathica: a novel SLC39A4 gene mutation found in a patient with an early-onset. ( 21906148 )
2011

Variations for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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

75
# 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 Likely benign rs117535951 GRCh37 Chromosome 8, 145641417: 145641417
35 SLC39A4 NM_130849.3(SLC39A4): c.251C> T (p.Pro84Leu) single nucleotide variant 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
12.39 SLC30A2 SLC30A5 SLC39A4 SLC39A5
2 11.32 SLC39A4 SLC39A5
3
Show member pathways
11 SLC30A2 SLC30A4 SLC30A5 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 9.43 SLC30A2 SLC30A4 SLC30A5 SLC39A4 SLC39A5 TMPO
2 late endosome GO:0005770 8.62 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 9.8 SLC30A2 SLC30A4 SLC30A5 SLC39A4 SLC39A5
2 transmembrane transport GO:0055085 9.77 SLC30A2 SLC30A4 SLC30A5 SLC39A4 SLC39A5
3 cation transport GO:0006812 9.63 SLC30A2 SLC30A4 SLC30A5
4 cation transmembrane transport GO:0098655 9.61 SLC30A2 SLC30A4 SLC30A5
5 response to zinc ion GO:0010043 9.5 SLC30A2 SLC30A4 SLC30A5
6 metal ion transport GO:0030001 9.49 SLC39A4 SLC39A5
7 zinc ion import across plasma membrane GO:0071578 9.48 SLC39A4 SLC39A5
8 cellular zinc ion homeostasis GO:0006882 9.43 SLC30A5 SLC39A4 SLC39A5
9 zinc ion transmembrane transport GO:0071577 9.33 SLC30A2 SLC30A4 SLC30A5
10 regulation of sequestering of zinc ion GO:0061088 9.13 SLC30A2 SLC30A4 SLC30A5
11 zinc ion transport GO:0006829 9.02 SLC30A2 SLC30A4 SLC30A5 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 metal ion transmembrane transporter activity GO:0046873 9.16 SLC39A4 SLC39A5
2 cation transmembrane transporter activity GO:0008324 9.13 SLC30A2 SLC30A4 SLC30A5
3 zinc ion transmembrane transporter activity GO:0005385 9.02 SLC30A2 SLC30A4 SLC30A5 SLC39A4 SLC39A5

Sources for Acrodermatitis Enteropathica, Zinc-Deficiency Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....