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Acrodermatitis enteropathica

Disease ID:1259
Name:Acrodermatitis enteropathica
Associated with:1 target
Description
AE is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with bullous skin lesions, and widespread malformation of immune system tissues (absence of the thymus and germinal centers, and plasmocytosis of lymph nodes and spleen).
Database Links
OMIM: 201100

Targets

Zinc transporter 4
Role:  Zinc deficiency caused by absent Ae2 function has been identified in patients with acrodermatitis enteropathica.
References:  1

Ligands

No ligand related data available for Acrodermatitis enteropathica

References

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1. Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S. (2009) An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. Hum. Mutat., 30 (6): 926-33. [PMID:19370757]