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AEZ
MCID: ACR056
MIFTS: 56

Acrodermatitis Enteropathica, Zinc-Deficiency Type (AEZ)

Categories: Endocrine diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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

Name: Acrodermatitis Enteropathica, Zinc-Deficiency Type 57 73
Acrodermatitis Enteropathica 57 11 19 58 75 12 53 5 43 14 71 33
Aez 57 19 58 73
Brandt Syndrome 19 33
Enteropathica 19 75
Acrodermatitis Enteropathica, Zinc Deficiency Type 58
Acrodermatitis Enteropathica Zinc Deficiency Type 19
Acrodermatitis Enteropathica, Zinc Deficiency 38
Primary Zinc Malabsorption Syndrome 33
Inherited Zinc Deficiency 58
Danbolt-Cross Syndrome 19
Danbolt-Closs Syndrome 33
Ae 19

Characteristics:


Inheritance:

Acrodermatitis Enteropathica, Zinc-Deficiency Type: Autosomal recessive 57
Acrodermatitis Enteropathica: Autosomal recessive 58

Prevelance:

Acrodermatitis Enteropathica: 1-9/1000000 (Denmark) 58

Age Of Onset:

Acrodermatitis Enteropathica: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
response to zinc supplementation
maternal breast milk is protective
distinct disorder from reduced zinc in breast milk


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Endocrine diseases Gastrointestinal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32
ICD11: 33
Orphanet: 58  
Rare gastroenterological diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Sources

Summaries for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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GARD: 19 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 genetic changes in the SLC39A4 gene and inherited in an autosomal recessive pattern. The acquired form can result from diets lacking the appropriate amount of zinc.

MalaCards based summary: Acrodermatitis Enteropathica, Zinc-Deficiency Type, also known as acrodermatitis enteropathica, is related to acrodermatitis and zinc deficiency, transient neonatal, 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 inorganic cations/anions and amino acids/oligopeptides and Nuclear receptors meta-pathway. The drug Zinc cation 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: 11 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: 73 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.

Orphanet: 58 A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.

Wikipedia: 75 Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc... more...

More information from OMIM: 201100
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Related Diseases for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 acrodermatitis 32.2 SLC39A4 SLC30A4 SLC30A2
2 zinc deficiency, transient neonatal 11.1
3 alopecia 10.9
4 diarrhea 10.7
5 exanthem 10.7
6 cystic fibrosis 10.6
7 nutritional deficiency disease 10.5
8 maple syrup urine disease 10.5
9 dermatitis 10.5
10 skin disease 10.5
11 anorexia nervosa 10.4
12 celiac disease 1 10.3
13 deficiency anemia 10.3
14 organic acidemia 10.3
15 crohn's disease 10.3
16 alcohol dependence 10.3
17 3-methylglutaconic aciduria, type iii 10.3
18 agammaglobulinemia, x-linked 10.3
19 ornithine transcarbamylase deficiency, hyperammonemia due to 10.3
20 leukemia, acute lymphoblastic 10.3
21 angular cheilitis 10.3
22 short bowel syndrome 10.3
23 keratomalacia 10.3
24 methylmalonic acidemia 10.3
25 agammaglobulinemia 10.3
26 epidermolysis bullosa 10.3
27 pseudomonilethrix 10.2
28 inflammatory bowel disease 1 10.2
29 fryns microphthalmia syndrome 10.2
30 dermatitis, atopic 10.2
31 sickle cell anemia 10.2
32 abdominal obesity-metabolic syndrome 1 10.2
33 propionic acidemia 10.2
34 olmsted syndrome 1 10.2
35 pemphigus foliaceus 10.2
36 lactose intolerance 10.2
37 glossitis 10.2
38 alcohol use disorder 10.2
39 palmoplantar keratosis 10.2
40 epidermolysis bullosa dystrophica 10.2
41 acquired immunodeficiency syndrome 10.2
42 pellagra 10.2
43 impetigo 10.2
44 pemphigus 10.2
45 stomatitis 10.2
46 alopecia areata 10.2
47 glucagonoma 10.2
48 darier-white disease 10.0
49 ige responsiveness, atopic 10.0
50 pancreatitis, hereditary 10.0

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



Diseases related to Acrodermatitis Enteropathica, Zinc-Deficiency Type
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Symptoms & Phenotypes for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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

58 30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002024
2 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0004322
3 dry skin 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0000958
4 alopecia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001596
5 cerebral cortical atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002120
6 erythema 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010783
7 chronic diarrhea 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002028
8 abnormal eyebrow morphology 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000534
9 abnormal blistering of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008066
10 pustule 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0200039
11 failure to thrive 58 30 Very rare (1%) Frequent (79-30%)
 HP:0001508
12 emotional lability 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000712
13 photophobia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000613
14 skin ulcer 58 30 Frequent (33%) Frequent (79-30%)
 HP:0200042
15 cheilitis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100825
16 conjunctivitis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000509
17 blepharitis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000498
18 furrowed tongue 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000221
19 ridged fingernail 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008402
20 glossitis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000206
21 paronychia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001818
22 ridged nail 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001807
23 visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000505
24 anorexia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002039
25 weight loss 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001824
26 corneal erosion 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0200020
27 poor appetite 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004396
28 diarrhea 30 Very rare (1%) HP:0002014
29 decreased serum zinc 30 Very rare (1%) HP:0031831
30 perioral erythema 30 Very rare (1%) HP:0033194
31 perianal erythema 30 Very rare (1%) HP:0033195
32 ataxia 30 HP:0001251
33 tremor 30 HP:0001337
34 splenomegaly 30 HP:0001744
35 hepatomegaly 30 HP:0002240
36 generalized abnormality of skin 58 Very frequent (99-80%)
37 abnormality of the nail 58 Frequent (79-30%)
38 irritability 30 HP:0000737
39 abnormal eyelid morphology 58 Very frequent (99-80%)
40 impaired t cell function 30 HP:0005435
41 decreased testicular size 30 HP:0008734
42 abnormality of the tongue 58 Frequent (79-30%)
43 lethargy 30 HP:0001254
44 hypogonadism 30 HP:0000135
45 alopecia of scalp 30 HP:0002293
46 recurrent candida infections 30 HP:0005401
47 low alkaline phosphatase 30 HP:0003282
48 hypogeusia 30 HP:0000224
49 decreased serum testosterone concentration 30 HP:0040171

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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:
poor appetite
diarrhea
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 08-Dec-2022)

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:

25
# 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.43 SLC30A4 SLC30A5 SLC39A1 SLC39A14 SLC39A2 SLC39A7
2 skeleton MP:0005390 9.23 SLC30A2 SLC30A4 SLC30A5 SLC39A13 SLC39A14 SLC39A4
Sources

Drugs & Therapeutics for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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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 cation Approved, Experimental, Investigational 7440-66-6, 23713-49-7 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

Cochrane evidence based reviews: acrodermatitis enteropathica

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Genetic Tests for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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Anatomical Context for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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

MalaCards : Skin, Breast, Tongue, Small Intestine, Bone Marrow, Liver, Pancreas
Sources

Publications for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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Articles related to Acrodermatitis Enteropathica, Zinc-Deficiency Type:

(show top 50) (show all 800)
# Title Authors PMID Year
1
Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. 62 57 5
12068297 2002
2
Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. 62 57 5
11254458 2001
3
Altered selectivity in an Arabidopsis metal transporter. 57 5
11035780 2000
4
An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. 53 62 57
19370757 2009
5
Novel SLC39A4 mutations in acrodermatitis enteropathica. 53 62 5
12787121 2003
6
Analysis of zinc transporter, hZnT4 ( Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk. 62 57
12743795 2003
7
A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. 62 5
12032886 2002
8
Acrodermatitis enteropathica. 62 57
6413773 1983
9
Two pregnancies in a patient with acrodermatitis enteropathica treated with zinc sulphate. 62 57
6115249 1981
10
Acrodermatitis enteropathica Reversibility of cerebral atrophy with zinc therapy. 62 57
7234413 1981
11
Symptomatic zinc deficiency in a breast-fed preterm infant. 62 57
7192074 1980
12
Hereditary acrodermatitis enteropathica in an adult. 62 57
7377790 1980
13
Zinc deficiency, acrodermatitis enteropathica, optic atrophy, subacute myelo-optic neuropathy, and 5,7-dihalo-8-quinolinols. 62 57
6444713 1980
14
Zinc therapy of depressed cellular immunity in acrodermatitis enteropathica. Its correction. 62 57
112858 1979
15
Zinc deficiency in murine milk underlies expression of the lethal milk (lm) mutation. 62 57
619449 1978
16
Acrodermatitis enteropathica without hypozincemia. 62 57
894428 1977
17
Acrodermatitis enteropathica, zinc, and the Paneth cell. A case report with family studies. 62 57
196972 1977
18
Animal model of human disease. Acrodermatitis enteropathica, zinc malabsorption. 62 57
559415 1977
19
Zinc-binding factor in acrodermatitis enteropathica. 62 57
63790 1976
20
Treatment of acrodermatitis enteropathica with zinc sulphate. Rerport of 3 cases. 62 57
955934 1976
21
Zinc therapy in acrodermatitis enteropathica. 62 57
955933 1976
22
Oral treatment of acrodermatitis enteropathica with zinc sulfate. 62 57
946739 1976
23
Hereditary zinc deficiency (Adema disease) in cattle, an animal parallel to acrodermatitis enteropathica. 62 57
58525 1976
24
Zinc therapy of acrodermatitis enteropathica. 62 57
1090826 1975
25
Letter: Acrodermatitis enteropathica: a lethal inherited human zinc-deficiency disorder. 62 57
4136854 1974
26
Acrodermatitis enteropathica: defective metabolism of unsaturated fatty acids. 62 57
4888314 1969
27
Autopsy findings in acrodermatitis enteropathica. 62 57
4885296 1969
28
ACRODERMATITIS ENTEROPATHICA. 62 57
14081563 1964
29
Acrodermatitis enteropathica. Case report and review of literature. 62 57
13933009 1963
30
FAMILIAL ACRODERMATITIS ENTEROPATHICA IN AN ADULT. 62 57
14088642 1963
31
Acrodermatitis enteropathica (Danbolt-Closs) in five siblings; efficacy of diodoquin in its management. 62 57
13295966 1956
32
Acrodermatitis enteropathica successfully treated with diodoquin. 62 57
14354277 1955
33
Acrodermatitis enteropathica; review of the literature and report of a case successfully treated with diodoquin. 62 57
13044560 1953
34
Zinc metabolism: basic, clinical, and behavioral aspects. 57
6455508 1981
35
One novel homozygous mutation of SLC39A4 gene in a Chinese patient with acrodermatitis enteropathica. 53 62
20300938 2010
36
Novel and recurrent nonsense mutation of the SLC39A4 gene in Japanese patients with acrodermatitis enteropathica. 53 62
19416256 2009
37
Regulation and function of Zip4, the acrodermatitis enteropathica gene. 53 62
19021533 2008
38
A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica. 53 62
17573886 2007
39
The mouse acrodermatitis enteropathica gene Slc39a4 (Zip4) is essential for early development and heterozygosity causes hypersensitivity to zinc deficiency. 53 62
17483098 2007
40
A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica. 53 62
16889938 2006
41
[Acrodermatitis enteropathica (AE) is caused by mutations in the zinc transporter gene SLC39A4]. 53 62
16819703 2006
42
The adaptive response to dietary zinc in mice involves the differential cellular localization and zinc regulation of the zinc transporters ZIP4 and ZIP5. 53 62
15358787 2004
43
Acrodermatitis enteropathica mutations affect transport activity, localization and zinc-responsive trafficking of the mouse ZIP4 zinc transporter. 53 62
14709598 2004
44
The acrodermatitis enteropathica gene ZIP4 encodes a tissue-specific, zinc-regulated zinc transporter in mice. 53 62
12801924 2003
45
Zinc homeostasis-regulating proteins: new drug targets for triggering cell fate. 53 62
12699353 2003
46
ZNT4 gene is not responsible for acrodermatitis enteropathica in Japanese families. 53 62
11935329 2002
47
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. 53 62
11686514 2001
48
The transmembrane domains mediate oligomerization of the human ZIP4 transporter in vivo. 62
36473915 2022
49
Enterokinase deficiency with novel TMPRSS15 gene mutation masquerading as acrodermatitis enteropathica. 62
36410965 2022
50
Acquired Acrodermatitis enteropathica - an unusual cause of vulva ulceration in a post-operative patient: a case report. 62
36436008 2022
Sources

Variations for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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

5 (show top 50) (show all 155)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC39A4 NM_130849.4(SLC39A4):c.475-19G>A SNV Pathogenic
 3536 GRCh37: 8:145640822-145640822
GRCh38: 8:144415438-144415438
2 SLC39A4 NM_130849.4(SLC39A4):c.1576G>A (p.Gly526Arg) SNV Pathogenic
 3538 rs121434288 GRCh37: 8:145638672-145638672
GRCh38: 8:144413288-144413288
3 SLC39A4 NM_130849.4(SLC39A4):c.318C>A (p.Asn106Lys) SNV Pathogenic
 3540 rs121434290 GRCh37: 8:145641350-145641350
GRCh38: 8:144415966-144415966
4 SLC39A4 NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp) SNV Pathogenic
 3542 rs121434291 GRCh37: 8:145639806-145639806
GRCh38: 8:144414422-144414422
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 NM_130849.4(SLC39A4):c.909G>C (p.Gln303His) SNV Pathogenic
 3545 rs121434293 GRCh37: 8:145640176-145640176
GRCh38: 8:144414792-144414792
7 SLC39A4 SLC39A4, 2-KB DEL, UPSTREAM REGION DEL Pathogenic
 3541 GRCh37:
GRCh38:
8 SLC39A4 NM_130849.4(SLC39A4):c.1224_1228del (p.Gly409fs) DEL Pathogenic
 3534 GRCh37: 8:145639401-145639405
GRCh38: 8:144414017-144414021
9 SLC39A4 NM_130849.4(SLC39A4):c.970_973del (p.Ser324fs) DEL Pathogenic
 3535 GRCh37: 8:145640112-145640115
GRCh38: 8:144414728-144414731
10 SLC39A4 NM_130849.4(SLC39A4):c.1018_1070dup (p.Thr357_His358insAlaArgSerLeuAlaSerCysCysTer) DUP Pathogenic
 3543 GRCh37: 8:145639724-145639725
GRCh38: 8:144414340-144414341
11 SLC39A4 NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg) SNV Pathogenic
 3539 rs121434289 GRCh37: 8:145639675-145639675
GRCh38: 8:144414291-144414291
12 SLC39A4 NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter) SNV Pathogenic
 1069887 GRCh37: 8:145639426-145639426
GRCh38: 8:144414042-144414042
13 SLC39A4 NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) SNV Pathogenic
 3537 rs121434287 GRCh37: 8:145640679-145640679
GRCh38: 8:144415295-144415295
14 SLC39A4 NM_130849.4(SLC39A4):c.1149+2T>C SNV Likely Pathogenic
 969229 rs1255730342 GRCh37: 8:145639644-145639644
GRCh38: 8:144414260-144414260
15 SLC39A4 NM_130849.4(SLC39A4):c.1066del (p.Val356fs) DEL Likely Pathogenic
 1075429 GRCh37: 8:145639729-145639729
GRCh38: 8:144414345-144414345
16 SLC39A4 NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu) SNV Conflicting Interpretations Of Pathogenicity
 362262 rs187080747 GRCh37: 8:145641411-145641411
GRCh38: 8:144416027-144416027
17 SLC39A4 NM_130849.4(SLC39A4):c.594C>T (p.Ala198=) SNV Uncertain Significance
 362254 rs782355343 GRCh37: 8:145640684-145640684
GRCh38: 8:144415300-144415300
18 SLC39A4 NM_130849.4(SLC39A4):c.264G>A (p.Leu88=) SNV Uncertain Significance
 1209795 GRCh37: 8:145641404-145641404
GRCh38: 8:144416020-144416020
19 SLC39A4 NM_130849.4(SLC39A4):c.1035C>A (p.Leu345=) SNV Uncertain Significance
 362243 rs782166922 GRCh37: 8:145639760-145639760
GRCh38: 8:144414376-144414376
20 SLC39A4 NM_130849.4(SLC39A4):c.171C>T (p.Cys57=) SNV Uncertain Significance
 362266 rs781945467 GRCh37: 8:145642003-145642003
GRCh38: 8:144416619-144416619
21 SLC39A4 NM_130849.4(SLC39A4):c.668-10T>C SNV Uncertain Significance
 362252 rs886062749 GRCh37: 8:145640504-145640504
GRCh38: 8:144415120-144415120
22 SLC39A4 NM_130849.4(SLC39A4):c.804+9C>T SNV Uncertain Significance
 362249 rs200693339 GRCh37: 8:145640349-145640349
GRCh38: 8:144414965-144414965
23 SLC39A4 NM_130849.4(SLC39A4):c.465C>T (p.Thr155=) SNV Uncertain Significance
 362258 rs781789218 GRCh37: 8:145641203-145641203
GRCh38: 8:144415819-144415819
24 SLC39A4 NM_130849.4(SLC39A4):c.1557C>T (p.Phe519=) SNV Uncertain Significance
 908942 rs782606354 GRCh37: 8:145638691-145638691
GRCh38: 8:144413307-144413307
25 SLC39A4 NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val) SNV Uncertain Significance
 726454 rs141890870 GRCh37: 8:145640760-145640760
GRCh38: 8:144415376-144415376
26 SLC39A4 NM_130849.4(SLC39A4):c.510G>A (p.Ala170=) SNV Uncertain Significance
 909066 rs370387758 GRCh37: 8:145640768-145640768
GRCh38: 8:144415384-144415384
27 SLC39A4 NM_130849.4(SLC39A4):c.659C>T (p.Thr220Met) SNV Uncertain Significance
 1204083 GRCh37: 8:145640619-145640619
GRCh38: 8:144415235-144415235
28 SLC39A4 NM_130849.4(SLC39A4):c.615C>T (p.Phe205=) SNV Uncertain Significance
 362253 rs201681875 GRCh37: 8:145640663-145640663
GRCh38: 8:144415279-144415279
29 SLC39A4 NM_130849.4(SLC39A4):c.1536G>A (p.Gly512=) SNV Uncertain Significance
 362230 rs886062745 GRCh37: 8:145638712-145638712
GRCh38: 8:144413328-144413328
30 SLC39A4 NM_130849.4(SLC39A4):c.1426G>C (p.Glu476Gln) SNV Uncertain Significance
 362233 rs201400971 GRCh37: 8:145638945-145638945
GRCh38: 8:144413561-144413561
31 SLC39A4 NM_130849.4(SLC39A4):c.364C>T (p.His122Tyr) SNV Uncertain Significance
 362259 rs782564213 GRCh37: 8:145641304-145641304
GRCh38: 8:144415920-144415920
32 SLC39A4 NM_130849.4(SLC39A4):c.1174G>C (p.Glu392Gln) SNV Uncertain Significance
 362236 rs367660059 GRCh37: 8:145639455-145639455
GRCh38: 8:144414071-144414071
33 SLC39A4 NM_130849.4(SLC39A4):c.-10G>A SNV Uncertain Significance
 362268 rs372200912 GRCh37: 8:145642183-145642183
GRCh38: 8:144416799-144416799
34 SLC39A4 NM_130849.4(SLC39A4):c.803C>T (p.Thr268Met) SNV Uncertain Significance
 362251 rs185494598 GRCh37: 8:145640359-145640359
GRCh38: 8:144414975-144414975
35 SLC39A4 NM_130849.4(SLC39A4):c.1150G>A (p.Val384Met) SNV Uncertain Significance
 362237 rs886062747 GRCh37: 8:145639479-145639479
GRCh38: 8:144414095-144414095
36 SLC39A4 NM_130849.4(SLC39A4):c.1511A>G (p.Asp504Gly) SNV Uncertain Significance
 362231 rs886062746 GRCh37: 8:145638737-145638737
GRCh38: 8:144413353-144413353
37 SLC39A4 NM_130849.4(SLC39A4):c.1426G>A (p.Glu476Lys) SNV Uncertain Significance
 362234 rs201400971 GRCh37: 8:145638945-145638945
GRCh38: 8:144413561-144413561
38 SLC39A4 NM_130849.4(SLC39A4):c.869C>T (p.Pro290Leu) SNV Uncertain Significance
 362246 rs142764754 GRCh37: 8:145640216-145640216
GRCh38: 8:144414832-144414832
39 SLC39A4 NM_130849.4(SLC39A4):c.1150-15G>A SNV Uncertain Significance
 362238 rs200673705 GRCh37: 8:145639494-145639494
GRCh38: 8:144414110-144414110
40 SLC39A4 NM_130849.4(SLC39A4):c.592G>A (p.Ala198Thr) SNV Uncertain Significance
 362255 rs781818806 GRCh37: 8:145640686-145640686
GRCh38: 8:144415302-144415302
41 SLC39A4 NM_130849.4(SLC39A4):c.1234G>A (p.Ala412Thr) SNV Uncertain Significance
 362235 rs781956407 GRCh37: 8:145639395-145639395
GRCh38: 8:144414011-144414011
42 SLC39A4 NM_130849.4(SLC39A4):c.1529C>G (p.Ala510Gly) SNV Uncertain Significance
 908943 rs782365032 GRCh37: 8:145638719-145638719
GRCh38: 8:144413335-144413335
43 SLC39A4 NM_130849.4(SLC39A4):c.1429G>A (p.Glu477Lys) SNV Uncertain Significance
 908944 rs782756897 GRCh37: 8:145638942-145638942
GRCh38: 8:144413558-144413558
44 SLC39A4 NM_130849.4(SLC39A4):c.1022C>T (p.Ala341Val) SNV Uncertain Significance
 909006 rs200126079 GRCh37: 8:145639773-145639773
GRCh38: 8:144414389-144414389
45 SLC39A4 NM_130849.4(SLC39A4):c.509C>T (p.Ala170Val) SNV Uncertain Significance
 909067 rs782235616 GRCh37: 8:145640769-145640769
GRCh38: 8:144415385-144415385
46 SLC39A4 NM_130849.4(SLC39A4):c.435G>C (p.Gln145His) SNV Uncertain Significance
 909068 rs782216965 GRCh37: 8:145641233-145641233
GRCh38: 8:144415849-144415849
47 SLC39A4 NM_130849.4(SLC39A4):c.1425G>C (p.Ala475=) SNV Uncertain Significance
 909803 rs574571465 GRCh37: 8:145638946-145638946
GRCh38: 8:144413562-144413562
48 SLC39A4 NM_130849.4(SLC39A4):c.1409G>A (p.Arg470His) SNV Uncertain Significance
 909804 rs782551696 GRCh37: 8:145639144-145639144
GRCh38: 8:144413760-144413760
49 SLC39A4 NM_130849.4(SLC39A4):c.1384C>T (p.Pro462Ser) SNV Uncertain Significance
 909805 rs782302424 GRCh37: 8:145639169-145639169
GRCh38: 8:144413785-144413785
50 SLC39A4 NM_130849.4(SLC39A4):c.1371C>T (p.Ser457=) SNV Uncertain Significance
 909806 rs782042283 GRCh37: 8:145639182-145639182
GRCh38: 8:144413798-144413798

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

73
# 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

Sources

Expression for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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

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Pathways directly related to Acrodermatitis Enteropathica, Zinc-Deficiency Type:

# Pathway Source
1 Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ) Reactome 66

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

# Super pathways Score Top Affiliating Genes
1
Transport of inorganic cations/anions and amino acids/oligopeptides 66
Show member pathways
 13.07 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
2
Nuclear receptors meta-pathway 74
Show member pathways
 12.36 SLC39A1 SLC39A10 SLC39A12 SLC39A13 SLC39A14 SLC39A2
3
Metal ion SLC transporters 66
Show member pathways
 11.64 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
4
Senescence and autophagy in cancer 74
11.45 SLC39A4 SLC39A2 SLC39A1
Sources

GO Terms for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.24 SLC30A1 SLC30A2 SLC30A4 SLC30A5 SLC30A6 SLC30A7
2 membrane GO:0016021 10.24 SLC30A1 SLC30A2 SLC30A4 SLC30A5 SLC30A6 SLC30A7
3 plasma membrane GO:0005886 10.03 SLC39A10 SLC39A12 SLC39A14 SLC39A2 SLC39A4 SLC39A5
4 plasma membrane GO:0005887 10.03 SLC39A10 SLC39A12 SLC39A14 SLC39A2 SLC39A4 SLC39A5
5 basolateral plasma membrane GO:0016323 9.8 SLC39A8 SLC39A5 SLC39A14 SLC30A1
6 Golgi cis cisterna membrane GO:1990674 9.46 SLC30A7 SLC30A5

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 zinc ion transport GO:0006829 10.45 SLC39A6 SLC39A7 SLC39A8 SLC39A5 SLC39A4 SLC39A2
2 cellular zinc ion homeostasis GO:0006882 10.45 SLC30A1 SLC30A2 SLC30A5 SLC30A6 SLC30A7 SLC39A10
3 transmembrane transport GO:0055085 10.3 SLC30A1 SLC30A2 SLC30A4 SLC30A5 SLC30A6 SLC30A7
4 monoatomic ion transport GO:0006811 10.19 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
5 monoatomic cation transport GO:0006812 10.06 SLC30A1 SLC30A2 SLC30A4 SLC30A5 SLC30A6 SLC30A7
6 zinc ion import into organelle GO:0062111 10.03 SLC30A7 SLC30A6 SLC30A5 SLC30A2 SLC30A1
7 zinc ion import across plasma membrane GO:0071578 10 SLC39A8 SLC39A6 SLC39A5 SLC39A4 SLC39A14 SLC39A12
8 cadmium ion transmembrane transport GO:0070574 9.97 SLC39A8 SLC39A14 SLC30A1
9 zinc ion import into Golgi lumen GO:1904257 9.95 SLC30A7 SLC30A6 SLC30A5
10 manganese ion transmembrane transport GO:0071421 9.87 SLC39A8 SLC39A14
11 cellular response to zinc ion starvation GO:0034224 9.85 SLC39A5 SLC39A4
12 insulin processing GO:0030070 9.84 SLC30A6 SLC30A5
13 cobalt ion transport GO:0006824 9.83 SLC39A8 SLC30A5
14 metal ion transport GO:0030001 9.83 SLC39A8 SLC39A7 SLC39A6 SLC39A5 SLC39A4 SLC39A2
15 regulation of sequestering of zinc ion GO:0061088 9.81 SLC30A4 SLC30A2
16 zinc ion transmembrane transport GO:0071577 9.75 SLC39A8 SLC39A7 SLC39A6 SLC39A4 SLC39A2 SLC39A14
17 monoatomic cation transmembrane transport GO:0098655 9.73 SLC30A7 SLC30A6 SLC30A5

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion transmembrane transporter activity GO:0005385 10.19 SLC39A2 SLC39A14 SLC39A13 SLC39A12 SLC39A10 SLC39A1
2 iron ion transmembrane transporter activity GO:0005381 9.63 SLC39A8 SLC39A14
3 monoatomic cation transmembrane transporter activity GO:0008324 9.63 SLC30A7 SLC30A6 SLC30A5 SLC30A4 SLC30A2 SLC30A1
4 manganese ion transmembrane transporter activity GO:0005384 9.61 SLC39A8 SLC39A14
5 cadmium ion transmembrane transporter activity GO:0015086 9.58 SLC39A8 SLC39A14
6 monoatomic anion:monoatomic cation symporter activity GO:0015296 9.54 SLC39A8 SLC39A14
7 metal ion transmembrane transporter activity GO:0046873 9.5 SLC30A5 SLC30A7 SLC39A1 SLC39A10 SLC39A12 SLC39A13
8 zinc:proton antiporter activity GO:0140826 9.43 SLC30A6 SLC30A2 SLC30A1
9 solute:bicarbonate symporter activity GO:0140410 9.32 SLC39A8 SLC39A14
Sources

Sources for Acrodermatitis Enteropathica, Zinc-Deficiency Type

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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