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Insulin Receptor Mutation - Associated Insulin Resistance Syndromes

MedGen UID:
1376386
•Concept ID:
C4330492
•
Disease or Syndrome

Definition

Insulin resistance caused by inactivating mutation(s) in the INSR gene encoding the insulin receptor. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInsulin Receptor Mutation - Associated Insulin Resistance Syndromes

Professional guidelines

PubMed

The prevention and treatment of hypoadiponectinemia-associated human diseases by up-regulation of plasma adiponectin.
Hossain MM, Mukheem A, Kamarul T
Life Sci 2015 Aug 15;135:55-67. Epub 2015 Mar 26 doi: 10.1016/j.lfs.2015.03.010. PMID: 25818192
Clinical classification and treatment of congenital and acquired lipodystrophy.
Chan JL, Oral EA
Endocr Pract 2010 Mar-Apr;16(2):310-23. doi: 10.4158/EP09154.RA. PMID: 20061300
Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.
Baumann G
Am J Pharmacogenomics 2002;2(2):93-111. doi: 10.2165/00129785-200202020-00003. PMID: 12083945

Recent clinical studies

Etiology

PPARγ and Diabetes: Beyond the Genome and Towards Personalized Medicine.
Cataldi S, Costa V, Ciccodicola A, Aprile M
Curr Diab Rep 2021 Apr 18;21(6):18. doi: 10.1007/s11892-021-01385-5. PMID: 33866450
Rare causes of hypoglycemia in adults.
Douillard C, Jannin A, Vantyghem MC
Ann Endocrinol (Paris) 2020 Jun;81(2-3):110-117. Epub 2020 Apr 10 doi: 10.1016/j.ando.2020.04.003. PMID: 32409005
Thyroid Abnormalities in Patients With Extreme Insulin Resistance Syndromes.
Kushchayeva YS, Kushchayev SV, Startzell M, Cochran E, Auh S, Dai Y, Lightbourne M, Skarulis M, Brown RJ
J Clin Endocrinol Metab 2019 Jun 1;104(6):2216-2228. doi: 10.1210/jc.2018-02289. PMID: 30657911Free PMC Article
The long road to leptin.
Friedman J
J Clin Invest 2016 Dec 1;126(12):4727-4734. doi: 10.1172/JCI91578. PMID: 27906690Free PMC Article
Epigenetic regulation in obesity.
Drummond EM, Gibney ER
Curr Opin Clin Nutr Metab Care 2013 Jul;16(4):392-7. doi: 10.1097/MCO.0b013e3283620f45. PMID: 23739626

Diagnosis

PPARγ and Diabetes: Beyond the Genome and Towards Personalized Medicine.
Cataldi S, Costa V, Ciccodicola A, Aprile M
Curr Diab Rep 2021 Apr 18;21(6):18. doi: 10.1007/s11892-021-01385-5. PMID: 33866450
Rare causes of hypoglycemia in adults.
Douillard C, Jannin A, Vantyghem MC
Ann Endocrinol (Paris) 2020 Jun;81(2-3):110-117. Epub 2020 Apr 10 doi: 10.1016/j.ando.2020.04.003. PMID: 32409005
Tissue glucocorticoid resistance/hypersensitivity syndromes.
Kino T, De Martino MU, Charmandari E, Mirani M, Chrousos GP
J Steroid Biochem Mol Biol 2003 Jun;85(2-5):457-67. doi: 10.1016/s0960-0760(03)00218-8. PMID: 12943736
The role of TNFalpha and TNF receptors in obesity and insulin resistance.
Hotamisligil GS
J Intern Med 1999 Jun;245(6):621-5. doi: 10.1046/j.1365-2796.1999.00490.x. PMID: 10395191
Polycystic ovarian disease.
Barbieri RL
Annu Rev Med 1991;42:199-204. doi: 10.1146/annurev.me.42.020191.001215. PMID: 2035966

Therapy

Thyroid Abnormalities in Patients With Extreme Insulin Resistance Syndromes.
Kushchayeva YS, Kushchayev SV, Startzell M, Cochran E, Auh S, Dai Y, Lightbourne M, Skarulis M, Brown RJ
J Clin Endocrinol Metab 2019 Jun 1;104(6):2216-2228. doi: 10.1210/jc.2018-02289. PMID: 30657911Free PMC Article
The long road to leptin.
Friedman J
J Clin Invest 2016 Dec 1;126(12):4727-4734. doi: 10.1172/JCI91578. PMID: 27906690Free PMC Article
The prevention and treatment of hypoadiponectinemia-associated human diseases by up-regulation of plasma adiponectin.
Hossain MM, Mukheem A, Kamarul T
Life Sci 2015 Aug 15;135:55-67. Epub 2015 Mar 26 doi: 10.1016/j.lfs.2015.03.010. PMID: 25818192
Succinate dehydrogenase-deficient gastrointestinal stromal tumors.
Wang YM, Gu ML, Ji F
World J Gastroenterol 2015 Feb 28;21(8):2303-14. doi: 10.3748/wjg.v21.i8.2303. PMID: 25741136Free PMC Article
The dysmetabolic syndrome.
Groop L, Orho-Melander M
J Intern Med 2001 Aug;250(2):105-20. doi: 10.1046/j.1365-2796.2001.00864.x. PMID: 11489060

Prognosis

Succinate dehydrogenase-deficient gastrointestinal stromal tumors.
Wang YM, Gu ML, Ji F
World J Gastroenterol 2015 Feb 28;21(8):2303-14. doi: 10.3748/wjg.v21.i8.2303. PMID: 25741136Free PMC Article
Relationship between Trp64Arg mutation in the β3-adrenergic receptor gene and metabolic syndrome: a seven-year follow-up study.
Zhu LY, Hu LY, Li XL, Wang GY, Shan W, Ma LC, Wang XH
Chin Med J (Engl) 2010 Sep;123(17):2375-8. PMID: 21034552
Tissue glucocorticoid resistance/hypersensitivity syndromes.
Kino T, De Martino MU, Charmandari E, Mirani M, Chrousos GP
J Steroid Biochem Mol Biol 2003 Jun;85(2-5):457-67. doi: 10.1016/s0960-0760(03)00218-8. PMID: 12943736
A common mutation of the insulin receptor substrate-1 gene is a risk factor for coronary artery disease.
Baroni MG, D'Andrea MP, Montali A, Pannitteri G, Barillà F, Campagna F, Mazzei E, Lovari S, Seccareccia F, Campa PP, Ricci G, Pozzilli P, Urbinati G, Arca M
Arterioscler Thromb Vasc Biol 1999 Dec;19(12):2975-80. doi: 10.1161/01.atv.19.12.2975. PMID: 10591678
Deletion of exon 3 of the insulin receptor gene in a kindred with a familial form of insulin resistance.
Wertheimer E, Litvin Y, Ebstein RP, Bennet ER, Barbetti F, Accili D, Taylor SI
J Clin Endocrinol Metab 1994 May;78(5):1153-8. doi: 10.1210/jcem.78.5.8175972. PMID: 8175972

Clinical prediction guides

Cancer in growth hormone excess and growth hormone deficit.
Guevara-Aguirre J, Peña G, Acosta W, Pazmiño G, Saavedra J, Soto L, Lescano D, Guevara A, Gavilanes AWD
Endocr Relat Cancer 2023 Oct 1;30(10) Epub 2023 Aug 14 doi: 10.1530/ERC-22-0402. PMID: 37428642
The interplay of canonical and noncanonical Wnt signaling in metabolic syndrome.
Abou Ziki MD, Mani A
Nutr Res 2019 Oct;70:18-25. Epub 2018 Jul 4 doi: 10.1016/j.nutres.2018.06.009. PMID: 30049588Free PMC Article
Insulin/IGF-1 hybrid receptors: implications for the dominant-negative phenotype in syndromes of insulin resistance.
Frattali AL, Treadway JL, Pessin JE
J Cell Biochem 1992 Jan;48(1):43-50. doi: 10.1002/jcb.240480108. PMID: 1316361
Molecular basis of insulin resistance.
Clauser E, Leconte I, Auzan C
Horm Res 1992;38(1-2):5-12. doi: 10.1159/000182470. PMID: 1306516
Molecular genetics of severe insulin resistance.
Elsas LJ 2nd, Longo N, Langley S, Griffin LD, Shuster RC
Yale J Biol Med 1989 Sep-Oct;62(5):533-47. PMID: 2697987Free PMC Article

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