Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis (EPIDACH)

Alias:

Pancreatic Insufficiency-Anemia-Hyperostosis Syndrome

Exocrine Pancreatic Insufficiency Dyserythropoietic Anemia and Calvarial Hyperostosis

Epidach

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Gene & Mutation

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Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis, is also known as pancreatic insufficiency-anemia-hyperostosis syndrome. An important gene associated with Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis is COX4I2 (Cytochrome C Oxidase Subunit 4I2). Affiliated tissues include pancreas and skin, and related phenotypes are failure to thrive and anemia of inadequate production

Related ID：

MALACARDS：EXC004

OMIM：612714