One of several diseases associated with defects in the insulin receptor, INSR. See the human disease model report for insulin resistance syndromes, INSR-related (FBhh0000168).
[updated Feb. 2016 by FlyBase; FBrf0222196]
[DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS](https://omim.org/entry/610549)
[INSULIN RECEPTOR; INSR](https://omim.org/entry/147670)
In affected females, the major features of the condition become apparent in adolescence. Many affected females do not begin menstruation by age 16 (primary amenorrhea) or their periods may be light and irregular (oligomenorrhea). They develop cysts on the ovaries and excessive body hair growth (hirsutism). Most affected females also develop a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. The features of type A insulin resistance syndrome are more subtle in affected males. Some males have low blood sugar (hypoglycemia) as the only sign; others may also have acanthosis nigricans. In many cases, males with this condition come to medical attention only when they develop diabetes mellitus in adulthood. Type A insulin resistance syndrome represents the mildest end of the spectrum of inherited insulin resistance syndromes: its features often do not become apparent until puberty or later, and it is generally not life-threatening. [from Genetics Home Reference, Type A insulin resistance syndrome; 2016.02.04]
See general description of diabetes mellitus, noninsulin-dependent (FBhh0000153).
Insulin-resistant diabetes mellitus with acanthosis nigricans can be caused by heterozygous, homozygous, or compound heterozygous mutation in the insulin receptor gene (INSR). [from MIM:610549; 2016.02.04]