KEGG   DISEASE: Acrodermatitis enteropathica
Entry
H00212                      Disease                                
Name
Acrodermatitis enteropathica
Description
Acrodermatitis enteropathica (AEZ) is an autosomal recessive disorder of zinc deficiency caused by defects of a zinc transporter gene. The disorder is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H00212  Acrodermatitis enteropathica
Pathway
hsa04978  Mineral absorption
Gene
SLC39A4 [HSA:55630] [KO:K14710]
Other DBs
ICD-11: 5C64.20
ICD-10: E83.2
MeSH: C538178
OMIM: 201100
Reference
PMID:17190629
  Authors
Maverakis E, Fung MA, Lynch PJ, Draznin M, Michael DJ, Ruben B, Fazel N
  Title
Acrodermatitis enteropathica and an overview of zinc metabolism.
  Journal
J Am Acad Dermatol 56:116-24 (2007)
DOI:10.1016/j.jaad.2006.08.015
Reference
PMID:11173209
  Authors
Sehgal VN, Jain S
  Title
Acrodermatitis enteropathica.
  Journal
Clin Dermatol 18:745-8 (2000)
DOI:10.1016/S0738-081X(00)00150-4

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  All links  
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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