diabetes mellitus—insulin-dependent—19

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diabetes mellitus—insulin-dependent—192016-11-25T15:21:28+00:00

diabetes mellitus—insulin-dependent—19 

ENDOCRINOLOGY

A multifactorial disorder (OMIM:610155) of glucose homeostasis characterised by susceptibility to ketoacidosis in the absence of insulin therapy. 

Clinical findings Polydipsia, polyphagia, polyuria due to hyperglycaemia-induced osmotic diuresis and secondary thirst. Long-term diabetic complications affect the eyes, kidneys, nerves, and blood vessels.

Molecular pathology Defects of IFIH1, which encodes an RNA helicase, cause diabetes mellitus—insulin-dependent—19.

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=IFIH1

http://www.uniprot.org/uniprot/Q9BYX4

http://www.omim.org/entry/610155

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