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Maturity-onset diabetes of the young type 11(MODY11)

MedGen UID:
461968
Concept ID:
C3150618
Disease or Syndrome
Synonym: Maturity-Onset Diabetes of the Young Type11
SNOMED CT: Maturity-onset diabetes of the young, type 11 (609578001); MODY11 (maturity-onset diabetes of the young type 11) (609578001)
 
Gene (location): BLK (8p23.1)
 
Monarch Initiative: MONDO:0013242
OMIM®: 613375

Definition

Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.

The different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare.

HNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas.

GCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare.

RCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout. [from MedlinePlus Genetics]

Clinical features

From HPO
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Overweight
MedGen UID:
105424
Concept ID:
C0497406
Finding
Increased body weight with a body mass index of 25-29.9 kg per square meter.
Maturity onset diabetes mellitus in young
MedGen UID:
87433
Concept ID:
C0342276
Disease or Syndrome
Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity (Vaxillaire and Froguel, 2008). Genetic Heterogeneity of MODY MODY1 (125850) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A; 600281) on chromosome 20. MODY2 (125851) is caused by heterozygous mutation in the glucokinase gene (GCK; 138079) on chromosome 7. MODY3 (600496) is caused by heterozygous mutation in the hepatocyte nuclear factor-1alpha gene (HNF1A; 142410) on chromosome 12q24. MODY4 (606392) is caused by heterozygous mutation in the pancreas/duodenum homeobox protein-1 gene (PDX1; 600733) on chromosome 13q12. MODY5 (137920) is caused by heterozygous mutation in the gene encoding hepatic transcription factor-2 (TCF2; 189907) on chromosome 17q12. MODY6 (606394) is caused by heterozygous mutation in the NEUROD1 gene (601724) on chromosome 2q31. MODY7 (610508) is caused by heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25. MODY8 (609812), or diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the CEL gene (114840) on chromosome 9q34. MODY9 (612225) is caused by heterozygous mutation in the PAX4 gene (167413) on chromosome 7q32. MODY10 (613370) is caused by heterozygous mutation in the insulin gene (INS; 176730) on chromosome 11p15. MODY11 (613375) is caused by heterozygous mutation in the BLK gene (191305) on chromosome 8p23. MODY13 (616329) is caused by heterozygous mutation in the KCNJ11 gene (600937) on chromosome 11p15. MODY14 (616511) is caused by heterozygous mutation in the APPL1 gene (604299) on chromosome 3p14.

Professional guidelines

PubMed

Özsu E, Çetinkaya S, Bolu S, Hatipoğlu N, Savaş Erdeve Ş, Evliyaoğlu O, Baş F, Çayır A, Dündar İ, Akbaş ED, Uçaktürk SA, Berberoğlu M, Şıklar Z, Özalkak Ş, Muratoğlu Şahin N, Keskin M, Şiraz ÜG, Turan H, Öztürk AP, Mengen E, Sağsak E, Dursun F, Akyürek N, Odabaşı Güneş S, Aycan Z
J Clin Res Pediatr Endocrinol 2024 Sep 5;16(3):297-305. Epub 2024 Apr 26 doi: 10.4274/jcrpe.galenos.2024.2023-10-16. PMID: 38665000
Schnedl WJ, Holasek SJ, Schenk M, Enko D, Mangge H
Wien Klin Wochenschr 2021 Mar;133(5-6):241-244. Epub 2020 Nov 27 doi: 10.1007/s00508-020-01770-2. PMID: 33245425
Choby B
FP Essent 2017 May;456:11-19. PMID: 28530380

Recent clinical studies

Etiology

Wu HX, Chu TY, Iqbal J, Jiang HL, Li L, Wu YX, Zhou HD
J Clin Endocrinol Metab 2023 Oct 18;108(11):2970-2980. doi: 10.1210/clinem/dgad233. PMID: 37093977
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration, Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA
Am J Hum Genet 2022 Nov 3;109(11):2018-2028. Epub 2022 Oct 17 doi: 10.1016/j.ajhg.2022.09.014. PMID: 36257325Free PMC Article
Tosur M, Philipson LH
J Diabetes Investig 2022 Sep;13(9):1465-1471. Epub 2022 Jun 16 doi: 10.1111/jdi.13860. PMID: 35638342Free PMC Article
Rottenkolber M, Gar C, Then C, Wanger L, Sacco V, Banning F, Potzel AL, Kern-Matschilles S, Nevinny-Stickel-Hinzpeter C, Grallert H, Hesse N, Seissler J, Lechner A
J Clin Endocrinol Metab 2021 Apr 23;106(5):1460-1471. doi: 10.1210/clinem/dgab057. PMID: 33515032Free PMC Article
Calcaterra V, Regalbuto C, Dobbiani G, Montalbano C, Vinci F, De Silvestri A, Albertini R, Larizza D
Horm Res Paediatr 2019;92(1):52-55. Epub 2019 Sep 4 doi: 10.1159/000502037. PMID: 31484194

Diagnosis

Mancera-Rincón P, Luna-España MC, Rincon O, Guzmán I, Alvarez M
Curr Diabetes Rev 2024;20(1):e210323214817. doi: 10.2174/1573399819666230321114456. PMID: 36944622
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration, Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA
Am J Hum Genet 2022 Nov 3;109(11):2018-2028. Epub 2022 Oct 17 doi: 10.1016/j.ajhg.2022.09.014. PMID: 36257325Free PMC Article
Tosur M, Philipson LH
J Diabetes Investig 2022 Sep;13(9):1465-1471. Epub 2022 Jun 16 doi: 10.1111/jdi.13860. PMID: 35638342Free PMC Article
Choby B
FP Essent 2017 May;456:11-19. PMID: 28530380
Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL
Hum Mutat 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. PMID: 19790256

Therapy

Schnedl WJ, Holasek SJ, Schenk M, Enko D, Mangge H
Wien Klin Wochenschr 2021 Mar;133(5-6):241-244. Epub 2020 Nov 27 doi: 10.1007/s00508-020-01770-2. PMID: 33245425
Shakhtshneider EV, Mikhailova SV, Ivanoshchuk DE, Orlov PS, Ovsyannikova AK, Rymar OD, Ragino YI, Voevoda MI
BMC Res Notes 2018 Apr 2;11(1):211. doi: 10.1186/s13104-018-3338-1. PMID: 29606121Free PMC Article
Choby B
FP Essent 2017 May;456:11-19. PMID: 28530380
Maltoni G, Zucchini S, Martini AL, Marasco E, Mantovani V, Pession A
Diabetes Res Clin Pract 2015 Jan;107(1):e1-3. Epub 2014 Nov 13 doi: 10.1016/j.diabres.2014.11.002. PMID: 25467089
Tattersall R
Diabet Med 1998 Jan;15(1):11-4. doi: 10.1002/(SICI)1096-9136(199801)15:1<11::AID-DIA561>3.0.CO;2-0. PMID: 9472858

Prognosis

Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM Jr, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR
Prenat Diagn 2024 Feb;44(2):237-246. Epub 2023 Aug 26 doi: 10.1002/pd.6424. PMID: 37632214
Elashi AA, Toor SM, Diboun I, Al-Sarraj Y, Taheri S, Suhre K, Abou-Samra AB, Albagha OME
Int J Mol Sci 2022 Dec 21;24(1) doi: 10.3390/ijms24010130. PMID: 36613572Free PMC Article
Rottenkolber M, Gar C, Then C, Wanger L, Sacco V, Banning F, Potzel AL, Kern-Matschilles S, Nevinny-Stickel-Hinzpeter C, Grallert H, Hesse N, Seissler J, Lechner A
J Clin Endocrinol Metab 2021 Apr 23;106(5):1460-1471. doi: 10.1210/clinem/dgab057. PMID: 33515032Free PMC Article
Molven A, Njølstad PR
Expert Rev Mol Diagn 2011 Apr;11(3):313-20. doi: 10.1586/erm.10.123. PMID: 21463240
Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL
Hum Mutat 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. PMID: 19790256

Clinical prediction guides

Elashi AA, Toor SM, Diboun I, Al-Sarraj Y, Taheri S, Suhre K, Abou-Samra AB, Albagha OME
Int J Mol Sci 2022 Dec 21;24(1) doi: 10.3390/ijms24010130. PMID: 36613572Free PMC Article
El Jellas K, Dušátková P, Haldorsen IS, Molnes J, Tjora E, Johansson BB, Fjeld K, Johansson S, Průhová Š, Groop L, Löhr JM, Njølstad PR, Molven A
J Clin Endocrinol Metab 2022 Mar 24;107(4):e1455-e1466. doi: 10.1210/clinem/dgab864. PMID: 34850019Free PMC Article
Rottenkolber M, Gar C, Then C, Wanger L, Sacco V, Banning F, Potzel AL, Kern-Matschilles S, Nevinny-Stickel-Hinzpeter C, Grallert H, Hesse N, Seissler J, Lechner A
J Clin Endocrinol Metab 2021 Apr 23;106(5):1460-1471. doi: 10.1210/clinem/dgab057. PMID: 33515032Free PMC Article
Konig M, Shuldiner AR
J Matern Fetal Neonatal Med 2012 Jan;25(1):36-40. Epub 2011 Dec 7 doi: 10.3109/14767058.2012.626926. PMID: 22145702
Molven A, Njølstad PR
Expert Rev Mol Diagn 2011 Apr;11(3):313-20. doi: 10.1586/erm.10.123. PMID: 21463240

Recent systematic reviews

Sun S, Gong S, Li M, Wang X, Wang F, Cai X, Liu W, Luo Y, Zhang S, Zhang R, Zhou L, Zhu Y, Ma Y, Ren Q, Zhang X, Chen J, Chen L, Wu J, Gao L, Zhou X, Li Y, Zhong L, Han X, Ji L
Endocrine 2024 Jan;83(1):99-109. Epub 2023 Sep 19 doi: 10.1007/s12020-023-03512-6. PMID: 37726640

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