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GTR Home > Conditions/Phenotypes > Diabetes mellitus type 1

Summary

Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HNF-1-alpha, HNF-1A, HNF1, HNF1alpha, HNF4A, IDDM20, LFB1, MODY3, TCF-1, TCF1, HNF1A
    Summary: HNF1 homeobox A

  • Also known as: BSF-2, BSF2, CDF, HGF, HSF, IFN-beta-2, IFNB2, IL-6, IL6
    Summary: interleukin 6

  • Also known as: CMT1J, IP3R, IP3R-3, IP3R3, ITPR3
    Summary: inositol 1,4,5-trisphosphate receptor type 3

  • Also known as: LYP, LYP1, LYP2, PEP, PTPN22.5, PTPN22.6, PTPN8, PTPN22
    Summary: protein tyrosine phosphatase non-receptor type 22

Clinical features

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Practice guidelines

  • NICE, 2023
    UK NICE Guideline NG238, Cardiovascular disease: risk assessment and reduction, including lipid modification, 2023
  • NICE, 2023
    UK NICE Guideline NG18, Diabetes (type 1 and type 2) in children and young people: diagnosis and management, 2023
  • NICE, 2023
    UK NICE Guidance, Clinical Guideline CG181, Cardiovascular disease: risk assessment and reduction, including lipid modification, 2023
  • NICE, 2022
    UK NICE Guideline NG17, Type 1 diabetes in adults: diagnosis and management, 2022
  • NICE, 2020
    UK NICE Guideline NG3, Diabetes in pregnancy: management from preconception to the postnatal period
  • NICE, 2019
    UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019

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