Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Diabetes mellitus with insulin resistance and acanthosis nigricans

Diabetes mellitus with insulin resistance and acanthosis nigricans is an autosomal recessive or dominant disorder caused by loss-of-function mutations of the insulin receptor gene.

Symptoms

Acanthosis nigricans
All types of insulin resistance caused by mutations of the insulin receptor gene are accompanied by acanthosis nigricans.

Systematic

Insulin resistance
CIDEC
Diabetes mellitus with insulin resistance and acanthosis nigricans
INSR
ENPP1
IRS1
IRS2
PPARG

References:

1.

Odawara M et al. (1989) Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.

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2.

Kahn CR et al. (1988) The insulin receptor and the molecular mechanism of insulin action.

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3.

Grigorescu F et al. (1986) Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance.

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4.

Kahn CR et al. (1976) The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man.

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5.

Ojamaa K et al. (1988) Defects in human insulin receptor gene expression.

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6.

Schwenk WF et al. (1986) Familial insulin resistance and acanthosis nigricans. Presence of a postbinding defect.

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7.

Grunberger G et al. (1984) Defect in phosphorylation of insulin receptors in cells from an insulin-resistant patient with normal insulin binding.

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8.

Grigorescu F et al. (1984) Defect in insulin receptor phosphorylation in erythrocytes and fibroblasts associated with severe insulin resistance.

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9.

Mariani S et al. (1982) Insulin resistance in a child with Acanthosis nigricans type A.

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10.

Moller DE et al. (1994) Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.

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11.

Seemanová E et al. (1992) Autosomal dominant insulin resistance syndrome due to postbinding defect.

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12.

Dash S et al. (2009) A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.

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13.

Rüdiger HW et al. (1985) Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor.

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14.

Prince MJ et al. (1986) Functional characteristics of decreased insulin receptors on fibroblasts obtained from a subject with severe insulin resistance and acanthosis nigricans.

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15.

Bar RS et al. (1978) Insulin resistance, acanthosis nigricans, and normal insulin receptors in a young woman: evidence for a postreceptor defect.

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16.

Rüdiger HW et al. (1983) Familial insulin-resistant diabetes secondary to an affinity defect of the insulin receptor.

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17.

Leme CE et al. (1982) Acanthosis nigricans, hirsutism, insulin resistance and insulin receptor defect.

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18.

OMIM.ORG article

Omim 610549 [^]
Update: April 29, 2019