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insulin-resistance syndrome type A

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.
Uniprot Description Characterized by the association of severe insulin resistance (manifested by marked hyperinsulinemia and a failure to respond to exogenous insulin) with the skin lesion acanthosis nigricans and ovarian hyperandrogenism in adolescent female subjects. Women frequently present with hirsutism, acne, amenorrhea or oligomenorrhea, and virilization. This syndrome is different from the type B that has been demonstrated to be secondary to the presence of circulating autoantibodies against the insulin receptor.
Mondo Term and Equivalent IDs
MONDO:0012520:  insulin-resistance syndrome type A
EFO:1001503: 
GARD:0003008: 
MESH:C562710: 
NCIT:C131836: 
Orphanet:2297: