Acrodermatitis enteropathica, zinc deficiency type

General Information (adopted from Orphanet):

Synonyms, Signs: AEZ
Number of Symptoms 62
OrphanetNr: 37
OMIM Id: 201100
ICD-10: E83.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.2 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of zinc metabolism
 -Rare genetic disease
Genetic intestinal disease due to fat malabsorption
 -Rare genetic disease
Intestinal disease due to fat malabsorption
 -Rare gastroenterologic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Metabolic disease with skin involvement
 -Rare genetic disease
 -Rare skin disease
Other metabolic disease with skin involvement
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0008734) Decreased testicular size 105 / 7739
2
 (HPO:0000135) Hypogonadism 89 / 7739
3
 (HPO:0000206) Glossitis Frequent [Orphanet] 9 / 7739
4
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
5
 (HPO:0002293) Alopecia of scalp 9 / 7739
6
 (HPO:0000224) Decreased taste sensation 6 / 7739
7
 (HPO:0000221) Furrowed tongue Frequent [Orphanet] 24 / 7739
8
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
9
 (HPO:0100825) Cheilitis Frequent [Orphanet] 20 / 7739
10
 (HPO:0000534) Abnormality of the eyebrow Very frequent [Orphanet] 39 / 7739
11
 (HPO:0000613) Photophobia Frequent [Orphanet] 158 / 7739
12
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
13
 (HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
14
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
15
 (HPO:0000737) Irritability 93 / 7739
16
 (HPO:0001251) Ataxia 413 / 7739
17
 (HPO:0000712) Emotional lability 44 / 7739
18
 (HPO:0001337) Tremor 200 / 7739
19
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
20
 (HPO:0001254) Lethargy 104 / 7739
21
 (HPO:0008230) Decreased testosterone in males 4 / 7739
22
 (HPO:0002240) Hepatomegaly 467 / 7739
23
 (HPO:0004396) Poor appetite 7 / 7739
24
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
25
 (HPO:0002039) Anorexia Occasional [Orphanet] 62 / 7739
26
 (HPO:0002014) Diarrhea Very frequent [Orphanet] 225 / 7739
27
 (HPO:0001744) Splenomegaly 337 / 7739
28
 (HPO:0001508) Failure to thrive 454 / 7739
29
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
30
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
31
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
32
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
33
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
34
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
35
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
36
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
37
 (HPO:0200039) Pustule Very frequent [Orphanet] 20 / 7739
38
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
39
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
40
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
41
 (HPO:0001818) Paronychia 6 / 7739
42
 (HPO:0005435) Impaired T cell function 9 / 7739
43
 (HPO:0003282) Low alkaline phosphatase 7 / 7739
44
 (HPO:0005401) Recurrent candida infections 4 / 7739
45
 (OMIM) Dermatitis, symmetric pattern 1 / 7739
46
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
47
 (OMIM) Mental lethargy 1 / 7739
48
 (HPO:0003593) Infantile onset 249 / 7739
49
 (OMIM) Alopecia of eyelashes 1 / 7739
50
 (OMIM) Alopecia of eyebrows 1 / 7739
51
 (OMIM) Bullous, pustular dermatitis of extremities, oral, anal, and genital areas 1 / 7739
52
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739
53
 (OMIM) Delayed secondary sexual characteristics in males 1 / 7739
54
 (OMIM) Necrosis with inflammation 1 / 7739
55
 (OMIM) Decreased intestinal uptake of zinc 1 / 7739
56
 (OMIM) Decreased mucosal alkaline phosphatase 1 / 7739
57
 (OMIM) Decreased plasma zinc levels 1 / 7739
58
 (OMIM) Irritibility 1 / 7739
59
 (OMIM) Decreased levels of zinc in hair 1 / 7739
60
 (OMIM) Impaired would healing 1 / 7739
61
 (OMIM) Spongiotic epidermis 1 / 7739
62
 (OMIM) Impaired taste 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The disorder is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous. Noteworthy is the cure by diodoquin, ...
Molecular genetics OMIM Kury et al. (2002) observed that within the genomic region where the acrodermatitis enteropathica locus maps there is a gene, SLC39A4 (607059) that encodes a protein with significant similarity to members of the zinc/iron-regulated transporter-like protein (ZIP) family, ...