Details of Disease

General Information of Disease (ID: DISKWUNS)

Disease Name Acrodermatitis enteropathica
Synonyms
enteropathica; Brandt syndrome; ae; acrodermatitis enteropathica zinc deficiency type; acrodermatitis enteropathica, zinc-deficiency type; Danbolt-Cross syndrome; acrodermatitis enteropathica; acrodermatitis enteropathica, zinc deficiency type; AEZ; inherited zinc deficiency
Definition Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
Disease Hierarchy
DIS496E5: Disorder of zinc metabolism
DIS0HB59: Inborn metal metabolism disorder
DISKWUNS: Acrodermatitis enteropathica
Disease Identifiers
MONDO ID
MONDO_0008713
MESH ID
C538178
UMLS CUI
C0221036
OMIM ID
201100
MedGen ID
66355
Orphanet ID
37
SNOMED CT ID
37702000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DAPK3 TTERVQN Strong Genetic Variation [1]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC30A4 DT280XI Strong Genetic Variation [2]
SLC39A4 DTEZCUM Definitive Autosomal recessive [3]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC39A4 OTG908R2 Definitive Autosomal recessive [3]
------------------------------------------------------------------------------------

References

1 Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica. Hum Mutat. 2003 Oct;22(4):337-8. doi: 10.1002/humu.9178.
2 Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis enteropathica.Hum Genet. 2001 Aug;109(2):178-85. doi: 10.1007/s004390100539.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.