AEZ
MCID: ACR056
MIFTS: 55

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 57 72
Acrodermatitis Enteropathica 57 12 73 20 58 36 13 54 6 15 70
Aez 57 20 58 72
Acrodermatitis Enteropathica, Zinc Deficiency Type 58
Acrodermatitis Enteropathica Zinc Deficiency Type 20
Acrodermatitis Enteropathica, Zinc Deficiency 39
Inherited Zinc Deficiency 58
Danbolt-Cross Syndrome 20
Brandt Syndrome 20
Ae 20

Characteristics:

Orphanet epidemiological data:

58
acrodermatitis enteropathica
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
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:

31
acrodermatitis enteropathica, zinc-deficiency type:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Acrodermatitis Enteropathica, Zinc-Deficiency Type

GARD : 20 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 acrodermatitis, 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 breast, skin 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.

KEGG : 36 Acrodermatitis enteropathica (AEZ) is an autosomal recessive disorder of zinc deficiency caused by defects of a zinc transporter gene. The disorder is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive.

UniProtKB/Swiss-Prot : 72 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 : 73 Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc... more...

More information 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 121)
# Related Disease Score Top Affiliating Genes
1 enteropathica 32.5 SLC39A4 SLC30A4
2 acrodermatitis 32.1 SLC39A4 SLC30A4 SLC30A2 SLC30A1
3 glucagonoma 11.2
4 zinc deficiency, transient neonatal 11.2
5 alopecia 10.8
6 diarrhea 10.7
7 autosomal recessive disease 10.7
8 exanthem 10.6
9 cystic fibrosis 10.6
10 maple syrup urine disease 10.5
11 dermatitis 10.5
12 anorexia nervosa 10.4
13 skin disease 10.4
14 crohn's disease 10.3
15 fibrosis of extraocular muscles, congenital, 1 10.3
16 3-methylglutaconic aciduria, type iii 10.3
17 yemenite deaf-blind hypopigmentation syndrome 10.3
18 short bowel syndrome 10.3
19 agammaglobulinemia 10.3
20 epidermolysis bullosa 10.3
21 alcohol dependence 10.2
22 pseudomonilethrix 10.2
23 celiac disease 1 10.2
24 ornithine transcarbamylase deficiency, hyperammonemia due to 10.2
25 fryns microphthalmia syndrome 10.2
26 dermatitis, atopic 10.2
27 propionic acidemia 10.2
28 inflammatory bowel disease 10.2
29 diffuse alopecia areata 10.2
30 organic acidemia 10.2
31 angular cheilitis 10.2
32 pemphigus foliaceus 10.2
33 lactose intolerance 10.2
34 glossitis 10.2
35 methylmalonic acidemia 10.2
36 epidermolysis bullosa dystrophica 10.2
37 acquired immunodeficiency syndrome 10.2
38 pellagra 10.2
39 impetigo 10.2
40 pemphigus 10.2
41 stomatitis 10.2
42 isolated methylmalonic acidemia 10.2
43 telogen effluvium 10.1 SLC39A2 SLC39A10
44 hypermanganesemia with dystonia 2 10.1 SLC39A14 SLC39A13
45 down syndrome 10.0
46 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
47 abetalipoproteinemia 10.0
48 alopecia universalis congenita 10.0
49 enterocolitis 10.0
50 epidermolysis bullosa dystrophica, autosomal recessive 10.0

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:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
4 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
5 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
6 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
7 chronic diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002028
8 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
9 pustule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200039
10 abnormal eyebrow morphology 31 hallmark (90%) HP:0000534
11 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
12 emotional lability 58 31 frequent (33%) Frequent (79-30%) HP:0000712
13 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
14 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
15 cheilitis 58 31 frequent (33%) Frequent (79-30%) HP:0100825
16 conjunctivitis 58 31 frequent (33%) Frequent (79-30%) HP:0000509
17 blepharitis 58 31 frequent (33%) Frequent (79-30%) HP:0000498
18 furrowed tongue 58 31 frequent (33%) Frequent (79-30%) HP:0000221
19 ridged fingernail 58 31 frequent (33%) Frequent (79-30%) HP:0008402
20 ridged nail 58 31 frequent (33%) Frequent (79-30%) HP:0001807
21 glossitis 58 31 frequent (33%) Frequent (79-30%) HP:0000206
22 paronychia 58 31 frequent (33%) Frequent (79-30%) HP:0001818
23 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
24 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
25 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
26 corneal erosion 58 31 occasional (7.5%) Occasional (29-5%) HP:0200020
27 poor appetite 58 31 occasional (7.5%) Occasional (29-5%) HP:0004396
28 ataxia 31 HP:0001251
29 tremor 31 HP:0001337
30 splenomegaly 31 HP:0001744
31 hepatomegaly 31 HP:0002240
32 generalized abnormality of skin 58 Very frequent (99-80%)
33 abnormality of the nail 58 Frequent (79-30%)
34 irritability 31 HP:0000737
35 abnormality of the eyelid 58 Very frequent (99-80%)
36 impaired t cell function 31 HP:0005435
37 abnormality of the eyebrow 58 Very frequent (99-80%)
38 decreased testicular size 31 HP:0008734
39 abnormality of the tongue 58 Frequent (79-30%)
40 lethargy 31 HP:0001254
41 hypogonadism 31 HP:0000135
42 diarrhea 31 HP:0002014
43 alopecia of scalp 31 HP:0002293
44 recurrent candida infections 31 HP:0005401
45 decreased serum testosterone level 31 HP:0040171
46 low alkaline phosphatase 31 HP:0003282
47 hypogeusia 31 HP:0000224

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
decreased testicular size

Skin Nails Hair Nails:
paronychia

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

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

Neurologic Behavioral Psychiatric Manifestations:
emotional lability
irritibility

Abdomen Liver:
hepatomegaly

Immunology:
impaired t cell function
frequent candida infections

Abdomen Gastrointestinal:
diarrhea
poor appetite
decreased intestinal uptake of zinc

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

Neurologic Central Nervous System:
cerebellar ataxia
tremors
mental lethargy

Head And Neck Mouth:
impaired taste

Skin Nails Hair Skin Histology:
spongiotic epidermis
necrosis with inflammation

Clinical features from OMIM®:

201100 (Updated 20-May-2021)

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


tremor; diarrhea; decrease in appetite; cerebellar ataxia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.17 SLC30A4 SLC30A7 SLC39A1 SLC39A14 SLC39A2 SLC39A6

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.1 SLC30A4 SLC30A5 SLC39A1 SLC39A14 SLC39A2 SLC39A7

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 Explanatory Severe Zinc Deficiencies : Multicenter, Genetics, Controlled and Prospective Study 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:

40
Breast, Skin, Tongue, Liver, Small Intestine, Pancreas, Bone Marrow

Publications for Acrodermatitis Enteropathica, Zinc-Deficiency Type

Articles related to Acrodermatitis Enteropathica, Zinc-Deficiency Type:

(show top 50) (show all 765)
# Title Authors PMID Year
1
Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 6 57 61
12068297 2002
2
Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. 61 6 57
11254458 2001
3
Altered selectivity in an Arabidopsis metal transporter. 57 6
11035780 2000
4
An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. 61 57 54
19370757 2009
5
Novel SLC39A4 mutations in acrodermatitis enteropathica. 61 6 54
12787121 2003
6
Analysis of zinc transporter, hZnT4 ( Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk. 57 61
12743795 2003
7
A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 6 61
12032886 2002
8
Acrodermatitis enteropathica. 61 57
6413773 1983
9
Two pregnancies in a patient with acrodermatitis enteropathica treated with zinc sulphate. 57 61
6115249 1981
10
Acrodermatitis enteropathica Reversibility of cerebral atrophy with zinc therapy. 57 61
7234413 1981
11
Symptomatic zinc deficiency in a breast-fed preterm infant. 57 61
7192074 1980
12
Hereditary acrodermatitis enteropathica in an adult. 57 61
7377790 1980
13
Zinc deficiency, acrodermatitis enteropathica, optic atrophy, subacute myelo-optic neuropathy, and 5,7-dihalo-8-quinolinols. 57 61
6444713 1980
14
Zinc therapy of depressed cellular immunity in acrodermatitis enteropathica. Its correction. 57 61
112858 1979
15
Zinc deficiency in murine milk underlies expression of the lethal milk (lm) mutation. 57 61
619449 1978
16
Acrodermatitis enteropathica, zinc, and the Paneth cell. A case report with family studies. 57 61
196972 1977
17
Acrodermatitis enteropathica without hypozincemia. 61 57
894428 1977
18
Animal model of human disease. Acrodermatitis enteropathica, zinc malabsorption. 57 61
559415 1977
19
Zinc-binding factor in acrodermatitis enteropathica. 61 57
63790 1976
20
Zinc therapy in acrodermatitis enteropathica. 57 61
955933 1976
21
Treatment of acrodermatitis enteropathica with zinc sulphate. Rerport of 3 cases. 61 57
955934 1976
22
Oral treatment of acrodermatitis enteropathica with zinc sulfate. 57 61
946739 1976
23
Hereditary zinc deficiency (Adema disease) in cattle, an animal parallel to acrodermatitis enteropathica. 57 61
58525 1976
24
Zinc therapy of acrodermatitis enteropathica. 57 61
1090826 1975
25
Letter: Acrodermatitis enteropathica: a lethal inherited human zinc-deficiency disorder. 57 61
4136854 1974
26
Acrodermatitis enteropathica: defective metabolism of unsaturated fatty acids. 57 61
4888314 1969
27
Autopsy findings in acrodermatitis enteropathica. 57 61
4885296 1969
28
ACRODERMATITIS ENTEROPATHICA. 57 61
14081563 1964
29
Acrodermatitis enteropathica. Case report and review of literature. 57 61
13933009 1963
30
Acrodermatitis enteropathica (Danbolt-Closs) in five siblings; efficacy of diodoquin in its management. 57 61
13295966 1956
31
Acrodermatitis enteropathica successfully treated with diodoquin. 57 61
14354277 1955
32
Zinc metabolism: basic, clinical, and behavioral aspects. 57
6455508 1981
33
One novel homozygous mutation of SLC39A4 gene in a Chinese patient with acrodermatitis enteropathica. 54 61
20300938 2010
34
Novel and recurrent nonsense mutation of the SLC39A4 gene in Japanese patients with acrodermatitis enteropathica. 61 54
19416256 2009
35
Regulation and function of Zip4, the acrodermatitis enteropathica gene. 54 61
19021533 2008
36
A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica. 61 54
17573886 2007
37
The mouse acrodermatitis enteropathica gene Slc39a4 (Zip4) is essential for early development and heterozygosity causes hypersensitivity to zinc deficiency. 54 61
17483098 2007
38
A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica. 54 61
16889938 2006
39
[Acrodermatitis enteropathica (AE) is caused by mutations in the zinc transporter gene SLC39A4]. 54 61
16819703 2006
40
The adaptive response to dietary zinc in mice involves the differential cellular localization and zinc regulation of the zinc transporters ZIP4 and ZIP5. 61 54
15358787 2004
41
Acrodermatitis enteropathica mutations affect transport activity, localization and zinc-responsive trafficking of the mouse ZIP4 zinc transporter. 61 54
14709598 2004
42
The acrodermatitis enteropathica gene ZIP4 encodes a tissue-specific, zinc-regulated zinc transporter in mice. 61 54
12801924 2003
43
Zinc homeostasis-regulating proteins: new drug targets for triggering cell fate. 54 61
12699353 2003
44
ZNT4 gene is not responsible for acrodermatitis enteropathica in Japanese families. 61 54
11935329 2002
45
Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica. 61 54
11686514 2001
46
Transient Symptomatic Zinc Deficiency Resembling Acrodermatitis Enteropathica in a Full-Term Breastfed Infant. 61
33025515 2021
47
Acquired acrodermatitis enteropathica from a ketogenic diet. 61
33665283 2021
48
Acrodermatitis enteropathica in a 3-month-old boy. 61
33593949 2021
49
Acrodermatitis enteropathica-like eruption secondary to vitamin and amino acid deficiencies associated with pancreatic tumour. 61
33461793 2021
50
Acquired Acrodermatitis Enteropathica. 61
33058784 2021

Variations for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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

6 (show top 50) (show all 137)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC39A4 NM_130849.4(SLC39A4):c.193-3C>T SNV Pathogenic 1032381 GRCh37: 8:145641478-145641478
GRCh38: 8:144416094-144416094
2 SLC39A4 NM_130849.4(SLC39A4):c.193-65G>A SNV Pathogenic 1032382 GRCh37: 8:145641540-145641540
GRCh38: 8:144416156-144416156
3 SLC39A4 NM_130849.4(SLC39A4):c.641_642insGGCAGCACAG (p.Ser214fs) Insertion Pathogenic 1032383 GRCh37: 8:145640636-145640637
GRCh38: 8:144415252-144415253
4 SLC39A4 NM_130849.4(SLC39A4):c.909G>C (p.Gln303His) SNV Pathogenic 3545 rs121434293 GRCh37: 8:145640176-145640176
GRCh38: 8:144414792-144414792
5 SLC39A4 NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys) SNV Pathogenic 3544 rs121434292 GRCh37: 8:145641385-145641385
GRCh38: 8:144416001-144416001
6 SLC39A4 SLC39A4, 53-BP INS, NT1017 Insertion Pathogenic 3543 GRCh37:
GRCh38:
7 SLC39A4 NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp) SNV Pathogenic 3542 rs121434291 GRCh37: 8:145639806-145639806
GRCh38: 8:144414422-144414422
8 SLC39A4 SLC39A4, 2-KB DEL, UPSTREAM REGION Deletion Pathogenic 3541 GRCh37:
GRCh38:
9 SLC39A4 NM_130849.4(SLC39A4):c.318C>A (p.Asn106Lys) SNV Pathogenic 3540 rs121434290 GRCh37: 8:145641350-145641350
GRCh38: 8:144415966-144415966
10 SLC39A4 NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg) SNV Pathogenic 3539 rs121434289 GRCh37: 8:145639675-145639675
GRCh38: 8:144414291-144414291
11 SLC39A4 NM_130849.4(SLC39A4):c.1576G>A (p.Gly526Arg) SNV Pathogenic 3538 rs121434288 GRCh37: 8:145638672-145638672
GRCh38: 8:144413288-144413288
12 SLC39A4 NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) SNV Pathogenic 3537 rs121434287 GRCh37: 8:145640679-145640679
GRCh38: 8:144415295-144415295
13 SLC39A4 SLC39A4, IVS1AS, G-A, -19 SNV Pathogenic 3536 GRCh37:
GRCh38:
14 SLC39A4 SLC39A4, 4-BP DEL Deletion Pathogenic 3535 GRCh37:
GRCh38:
15 SLC39A4 SLC39A4, 5-BP DEL Deletion Pathogenic 3534 GRCh37:
GRCh38:
16 SLC39A4 NM_130849.4(SLC39A4):c.390C>T (p.Leu130=) SNV Uncertain significance 726518 rs782454483 GRCh37: 8:145641278-145641278
GRCh38: 8:144415894-144415894
17 SLC39A4 NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val) SNV Uncertain significance 726454 rs141890870 GRCh37: 8:145640760-145640760
GRCh38: 8:144415376-144415376
18 SLC39A4 NC_000008.11:g.144416879A>G SNV Uncertain significance 909135 GRCh37: 8:145642263-145642263
GRCh38: 8:144416879-144416879
19 SLC39A4 NM_130849.4(SLC39A4):c.435G>C (p.Gln145His) SNV Uncertain significance 909068 GRCh37: 8:145641233-145641233
GRCh38: 8:144415849-144415849
20 SLC39A4 NM_130849.4(SLC39A4):c.509C>T (p.Ala170Val) SNV Uncertain significance 909067 GRCh37: 8:145640769-145640769
GRCh38: 8:144415385-144415385
21 SLC39A4 NM_130849.4(SLC39A4):c.510G>A (p.Ala170=) SNV Uncertain significance 909066 GRCh37: 8:145640768-145640768
GRCh38: 8:144415384-144415384
22 SLC39A4 NM_130849.4(SLC39A4):c.668-10T>C SNV Uncertain significance 362252 rs886062749 GRCh37: 8:145640504-145640504
GRCh38: 8:144415120-144415120
23 SLC39A4 NM_130849.4(SLC39A4):c.615C>T (p.Phe205=) SNV Uncertain significance 362253 rs201681875 GRCh37: 8:145640663-145640663
GRCh38: 8:144415279-144415279
24 SLC39A4 NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu) SNV Uncertain significance 362262 rs187080747 GRCh37: 8:145641411-145641411
GRCh38: 8:144416027-144416027
25 SLC39A4 NM_130849.4(SLC39A4):c.1257C>G (p.Leu419=) SNV Uncertain significance 798437 rs782097184 GRCh37: 8:145639372-145639372
GRCh38: 8:144413988-144413988
26 SLC39A4 NM_130849.4(SLC39A4):c.1149+7C>T SNV Uncertain significance 751753 rs782273130 GRCh37: 8:145639639-145639639
GRCh38: 8:144414255-144414255
27 SLC39A4 NM_130849.4(SLC39A4):c.1020C>T (p.Cys340=) SNV Uncertain significance 739176 rs368844801 GRCh37: 8:145639775-145639775
GRCh38: 8:144414391-144414391
28 SLC39A4 NM_130849.4(SLC39A4):c.258G>A (p.Pro86=) SNV Uncertain significance 721030 rs369791792 GRCh37: 8:145641410-145641410
GRCh38: 8:144416026-144416026
29 SLC39A4 NM_130849.4(SLC39A4):c.202G>T (p.Val68Leu) SNV Uncertain significance 776396 rs190698611 GRCh37: 8:145641466-145641466
GRCh38: 8:144416082-144416082
30 SLC39A4 NM_130849.4(SLC39A4):c.192+7G>A SNV Uncertain significance 736629 rs925582486 GRCh37: 8:145641975-145641975
GRCh38: 8:144416591-144416591
31 SLC39A4 NM_130849.4(SLC39A4):c.87G>A (p.Leu29=) SNV Uncertain significance 734265 rs367624191 GRCh37: 8:145642087-145642087
GRCh38: 8:144416703-144416703
32 SLC39A4 NM_130849.4(SLC39A4):c.92T>A (p.Leu31Gln) SNV Uncertain significance 991256 GRCh37: 8:145642082-145642082
GRCh38: 8:144416698-144416698
33 SLC39A4 NM_130849.4(SLC39A4):c.804+9C>T SNV Uncertain significance 362249 rs200693339 GRCh37: 8:145640349-145640349
GRCh38: 8:144414965-144414965
34 SLC39A4 NM_130849.4(SLC39A4):c.301G>A (p.Val101Ile) SNV Uncertain significance 726904 rs372812102 GRCh37: 8:145641367-145641367
GRCh38: 8:144415983-144415983
35 SLC39A4 NM_130849.4(SLC39A4):c.285C>T (p.Arg95=) SNV Uncertain significance 732377 rs369544835 GRCh37: 8:145641383-145641383
GRCh38: 8:144415999-144415999
36 SLC39A4 NM_130849.4(SLC39A4):c.1149+8C>T SNV Uncertain significance 752533 rs376765006 GRCh37: 8:145639638-145639638
GRCh38: 8:144414254-144414254
37 SLC39A4 NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys) SNV Uncertain significance 793384 rs200524049 GRCh37: 8:145640632-145640632
GRCh38: 8:144415248-144415248
38 SLC39A4 NM_130849.4(SLC39A4):c.182C>T (p.Pro61Leu) SNV Uncertain significance 990606 GRCh37: 8:145641992-145641992
GRCh38: 8:144416608-144416608
39 SLC39A4 NM_130849.4(SLC39A4):c.193-7C>T SNV Uncertain significance 990605 GRCh37: 8:145641482-145641482
GRCh38: 8:144416098-144416098
40 SLC39A4 NM_130849.4(SLC39A4):c.324G>A (p.Glu108=) SNV Uncertain significance 990604 GRCh37: 8:145641344-145641344
GRCh38: 8:144415960-144415960
41 SLC39A4 NM_130849.4(SLC39A4):c.1059C>G (p.Cys353Trp) SNV Uncertain significance 990602 GRCh37: 8:145639736-145639736
GRCh38: 8:144414352-144414352
42 SLC39A4 NM_130849.4(SLC39A4):c.1066G>T (p.Val356Phe) SNV Uncertain significance 990601 GRCh37: 8:145639729-145639729
GRCh38: 8:144414345-144414345
43 SLC39A4 NM_130849.4(SLC39A4):c.1118C>G (p.Thr373Ser) SNV Uncertain significance 990600 GRCh37: 8:145639677-145639677
GRCh38: 8:144414293-144414293
44 SLC39A4 NM_130849.4(SLC39A4):c.1391C>A (p.Pro464His) SNV Uncertain significance 990599 GRCh37: 8:145639162-145639162
GRCh38: 8:144413778-144413778
45 SLC39A4 NM_130849.4(SLC39A4):c.1903C>T (p.Leu635=) SNV Uncertain significance 765489 rs199706667 GRCh37: 8:145637963-145637963
GRCh38: 8:144412579-144412579
46 SLC39A4 NM_130849.4(SLC39A4):c.1937C>T (p.Thr646Ile) SNV Uncertain significance 990598 GRCh37: 8:145637929-145637929
GRCh38: 8:144412545-144412545
47 SLC39A4 NM_130849.4(SLC39A4):c.138C>A (p.Gly46=) SNV Uncertain significance 912044 GRCh37: 8:145642036-145642036
GRCh38: 8:144416652-144416652
48 SLC39A4 NM_130849.4(SLC39A4):c.1125C>T (p.Asp375=) SNV Uncertain significance 765836 rs556780206 GRCh37: 8:145639670-145639670
GRCh38: 8:144414286-144414286
49 SLC39A4 NM_130849.4(SLC39A4):c.1149+9C>T SNV Uncertain significance 761709 rs139192292 GRCh37: 8:145639637-145639637
GRCh38: 8:144414253-144414253
50 SLC39A4 NM_130849.4(SLC39A4):c.1426G>C (p.Glu476Gln) SNV Uncertain significance 362233 rs201400971 GRCh37: 8:145638945-145638945
GRCh38: 8:144413561-144413561

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

72
# 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

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
13.13 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
2 11.86 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
3
Show member pathways
11.76 SLC30A7 SLC30A6 SLC30A5
4
Show member pathways
11.53 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
5 11.46 SLC39A4 SLC39A2 SLC39A1
6 10.98 SLC39A8 SLC39A14

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 plasma membrane GO:0005886 10.03 SLC39A8 SLC39A6 SLC39A5 SLC39A4 SLC39A2 SLC39A14
2 Golgi apparatus GO:0005794 9.91 SLC39A7 SLC39A13 SLC30A7 SLC30A6 SLC30A5 SLC30A1
3 membrane GO:0016020 9.89 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
4 integral component of plasma membrane GO:0005887 9.81 SLC39A8 SLC39A6 SLC39A5 SLC39A4 SLC39A2 SLC39A14
5 lysosome GO:0005764 9.71 SLC39A8 SLC39A14 SLC30A4 SLC30A2
6 apical plasma membrane GO:0016324 9.67 SLC39A8 SLC39A4 SLC39A14 SLC30A5
7 basolateral plasma membrane GO:0016323 9.63 SLC39A8 SLC39A5 SLC39A14
8 lysosomal membrane GO:0005765 9.62 SLC39A8 SLC39A14 SLC30A4 SLC30A2
9 integral component of membrane GO:0016021 9.55 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 metal ion transport GO:0030001 10.11 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
2 transmembrane transport GO:0055085 10.09 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
3 cellular zinc ion homeostasis GO:0006882 10.06 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A14
4 zinc ion transmembrane transport GO:0071577 10.03 SLC39A8 SLC39A7 SLC39A6 SLC39A2 SLC39A14 SLC39A13
5 cation transport GO:0006812 9.98 SLC39A1 SLC30A7 SLC30A6 SLC30A5 SLC30A4 SLC30A2
6 zinc ion import across plasma membrane GO:0071578 9.95 SLC39A8 SLC39A6 SLC39A5 SLC39A4 SLC39A14 SLC39A12
7 zinc ion transport GO:0006829 9.89 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
8 response to zinc ion GO:0010043 9.78 SLC39A13 SLC30A5 SLC30A4 SLC30A2
9 cation transmembrane transport GO:0098655 9.71 SLC30A7 SLC30A6 SLC30A5
10 cadmium ion transmembrane transport GO:0070574 9.63 SLC39A8 SLC39A14 SLC30A1
11 inorganic anion transport GO:0015698 9.56 SLC39A8 SLC39A14
12 manganese ion transmembrane transport GO:0071421 9.55 SLC39A8 SLC39A14
13 ion transport GO:0006811 9.55 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
14 cobalt ion transport GO:0006824 9.52 SLC39A8 SLC30A5
15 regulation of sequestering of zinc ion GO:0061088 9.51 SLC30A4 SLC30A2
16 cellular response to zinc ion starvation GO:0034224 9.49 SLC39A5 SLC39A4

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 9.7 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
2 cation transmembrane transporter activity GO:0008324 9.63 SLC30A7 SLC30A6 SLC30A5 SLC30A4 SLC30A2 SLC30A1
3 zinc ion transmembrane transporter activity GO:0005385 9.53 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
4 iron ion transmembrane transporter activity GO:0005381 9.4 SLC39A8 SLC39A14
5 manganese ion transmembrane transporter activity GO:0005384 9.37 SLC39A8 SLC39A14
6 cadmium ion transmembrane transporter activity GO:0015086 9.32 SLC39A8 SLC39A14
7 anion:cation symporter activity GO:0015296 9.26 SLC39A8 SLC39A14

Sources for Acrodermatitis Enteropathica, Zinc-Deficiency Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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