H00212 | |
H number | H00212 |
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 |
Network | - |
Gene | SLC39A4 [HSA:55630] [KO:K14710] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 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 |