acrodermatitis enteropathica

Summary
Definition
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.
Super Class
metal metabolism disorder
Disease Ontology
DOID:0050605
Mondo Disease Ontology
MeSH
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
55630 SLC39A4 solute carrier family 39 member 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
72027 Slc39a4 solute carrier family 39 (zinc transporter), member 4
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6P5W5 Zinc transporter ZIP4
Displaying 1 entry
UniProt ID Protein Name Source
Q78IQ7 Zinc transporter ZIP4

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: February 17, 2025