Table 1.
Clinical characteristics of maturity onset diabetes of the young (MODY) genetic subtypes
| MODY type | Gene name (locus) | Protein function | Prevalence | Other features | Treatment | OMIMa |
|---|---|---|---|---|---|---|
| MODY 1 | HNF4A (20ql2) | Transcription factor | 5–10% | Neonatal hyperinsulinemia and hypoglycemia with associated macrosonria, low serum levels of cholesterol | Sensitive to sulfonylureas | 125850, 600281 |
| MODY 2 | GCK (7pl3) | Glycolytic enzynre | 30–60% | Mild fasting hyperglycemia throughout life, often asymptomatic, gestational diabetes, low birth weight (with unaffected mother) | No treatment outside of pregnancy | 138079,125851 |
| MODY 3 | HNFIA (12q24.2) | Transcription factor | 30–60% | Glycosuria | Sensitive to sulfonylureas | 600496,142410 |
| MODY 4 | PDX1 (13ql2.1) | Transcription factor | <1% | Homozygote: pancreatic agenesis | Diet, OAD, or insulin | 606392,600733 |
| MODY 5 | HNFIB (17q21) | Transcription factor | 5–10% | Diabetes in association with renal and genito-urinary abnomralities | Insulin | 137920, 189907 |
| MODY 6 | NEUROD I (2q31.3) | Transcription factor | <1% | Obesity and insulin resistance | OAD or insulin | 606394, 601724 |
| MODY 7 | KLF11 (2p25) | Transcription factor | <1% | Impaired glucose tolerance to overt diabetes | OAD or insulin | 603301,610508 |
| MODY 8 | CEL (9p34) | Lipase enzynre | < 1% | Diabetes and pancreatic exocrine. Endocrine deficiency | OAD or insulin | 114840,609812 |
| MODY 9 | PAX4 (7q32) | Transcription factor | < 1% | Ketosis prone diabetes | Diet, OAD, or insulin | 167413,612225 |
| MODY 10 | INS (llpl5.5) | Homrone | <1% | May result in neonatal diabetes, antibody-negative diabetes, and MODY | OAD or insulin | 613370, 176730 |
| MODY 11 | BLK (8p23) | Tyrosine kinase | <1% | Obesity common | Diet, OAD, or insulin | 191305, 613375 |
| MODY 12 | ABCC8 (llpl5.1) | SURI (KATP channel regulatory subunit) | <1% | Usually associated with neonatal diabetes, rare cause of MODY | Sensitive to sulfonylureas | 600509 |
| MODY 13 | KCNJ11 (1 lp 15.13 | Kir6.2 (KATP channel regulatory subunit) | <1% | Usually associated with neonatal diabetes, rare cause of MODY | Sensitive to sulfonylureas | 616329, 600937 |
| MODY 14 | APPL1 (3pl4.3) | Serine/threonine kinase | <1% | Adult-onset diabetes | Diet, OAD, or insulin | 616511, 604299 |
ABCC8 ATP-binding cassette, subfamily C (CFTR/MRP), member 8, APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1, BLK B lymphocyte kinase, CEL carboxyl ester lipase enzyme, GCK glucokinase, HNF1A hepatocyte nuclear factor-lα, HNF1B hepatocyte nuclear factor-lβ, FLNF4A hepatocyte nuclear factor-4α, INS preproinsulin, KATP ATP-sensitive potassium channel, KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11, KLF11 Kriippel-like factor 11, NEUROD 1 neurogenic differentiation factor 1, OAD oral anti-diabetic, PAX4 paired box gene 4, PDX1 pancreas/duodenum homeobox protein 1, SURI sulfonylurea receptor 1
The Online Mendelian Inheritance in Man (OMIM; http://omim.org) numbers indicate the descriptive entry of the phenotype and/or gene