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GTR Home > Conditions/Phenotypes > Hereditary acrodermatitis enteropathica

Hereditary acrodermatitis enteropathica

Synonyms
Acrodermatitis enteropathica; Acrodermatitis enteropathica zinc deficiency type; Brandt syndrome; Danbolt-Cross syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Acrodermatitis enteropathica of the zinc deficiency type (AEZ) is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous. Noteworthy is the cure by diodoquin, or diiodohydroxyquinoline (Dillaha et al., 1953; Bloom and Sobel, 1955). Rodin and Goldman (1969) described autopsy findings, including pancreatic islet hyperplasia, absence of the thymus and of germinal centers, and plasmocytosis of lymph nodes and spleen. [from OMIM]

Available tests

38 tests are in the database for this condition.

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Clinical tests (38 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AEZ, AWMS2, ZIP4, SLC39A4
    Summary: solute carrier family 39 member 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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