Appendix 1

Etiologic Classification of Diabetes Mellitus

I. Type 1 diabetes
(beta cell destruction, usually leading to absolute insulin deficiency)
A. Immune-mediated B. Idiopathic
II. Type 2 diabetes
(may range from predominantly insulin resistance with relative insulin deficiency to a
predominantly secretory defect with insulin resistance)
III. Other specific types
IV. Gestational diabetes mellitus
Genetic defects of betacell function
• Chromosome 20, HNF-4alpha (MODY1)
• Chromosome 7, glucokinase (MODY2)
• Chromosome 12, HNF-1alpha (MODY3)
• Chromosome 13, IPF-1 (MODY4)
• Chromosome 17, HNF-1beta (MODY5)
• Chromosome 2, NeuroD1 (MODY6)
• Chromosome 2, KLF11 (MODY7)
• Chromosome 9, CEL (MODY8)
• Chromosome 7, PAX4 (MODY9)
• Chromosome 11, INS (MODY10)
• Chromosome 8, BLK (MODY11)
• Mitochondrial DNA
• Permanent neonatal diabetes
• Transient neonatal diabetes
• Others
Genetic defects in insulin action
• Leprechaunism
• Lipoatrophic diabetes
• Rabson-Mendenhall syndrome
• Type A insulin resistance
• Others
Diseases of the exocrine pancreas
• Cystic fibrosis
• Fibrocalculouspancreatopathy
• Hemochromatosis
• Neoplasia
• Pancreatitis
• Trauma/pancreatectomy
• Others
Endocrinopathies
• Acromegaly
• Aldosteronoma
• Cushing’s syndrome
• Glucagonoma
• Hyperthyroidism
• Pheochromocytoma
• Somatostatinoma
• Others
Drug- or chemical-induced
• Alpha-interferon
• Atypical antipsychotics
• Beta-adrenergic agonists
• Diazoxide
• Dilantin
• Glucocorticoids
• Highly Active Antiretroviral Therapy (HAART)
• HMG CoA reductase inhibitors (statins)
• Nicotinic acid
• Pentamidine
• Thiazides
• Thyroid hormone
• Vacor (rodenticide)
• Others
Infections
• Congenital rubella
• Cytomegalovirus
• Others
Uncommon forms of immune-mediated diabetes
• Anti-insulin receptor antibodies
• "Stiff-man" syndrome
• Otherss
Other genetic syndromes sometimes associated with diabetes
• Down syndrome
• Friedreich ataxia
• Huntington chorea
• Klinefelter syndrome
• Laurence-Moon-Bardet-Biedl syndrome
• Myotonic dystrophy
• Porphyria
• Prader-Willi syndrome
• Turner syndrome
• Wolfram syndrome
• Others
Adapted and updated from: American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care. 2012; 35(suppl 1):S64-S71.

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