FB2026_03 , released September 17, 2026
Human Disease Model Report: diabetes mellitus, insulin-resistant, with acanthosis nigricans
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General Information
Name
diabetes mellitus, insulin-resistant, with acanthosis nigricans
FlyBase ID
FBhh0000174
Disease Ontology Term
Parent Disease
Overview

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]

Disease Summary Information
Disease Summary: diabetes mellitus, insulin-resistant, with acanthosis nigricans
OMIM report

[DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS](https://omim.org/entry/610549)

Human gene(s) implicated

[INSULIN RECEPTOR; INSR](https://omim.org/entry/147670)

Symptoms and phenotype

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).

Genetics

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]

Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
type A insulin resistance syndrome
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Selected Drosophila transgenes
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        RNAi constructs available
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        Selected Drosophila classical alleles
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        References (2)